Guy A. Rouleau, M.D., Ph.D. - Publications

Affiliations: 
Université de Montréal, Montréal, Canada 
Area:
Neurogenetics

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Year Citation  Score
2022 Cearns M, Amare AT, Schubert KO, Thalamuthu A, Frank J, Streit F, Adli M, Akula N, Akiyama K, Ardau R, Arias B, Aubry J, Backlund L, Bhattacharjee AK, Bellivier F, ... ... Rouleau GA, et al. Using polygenic scores and clinical data for bipolar disorder patient stratification and lithium response prediction: machine learning approach - CORRIGENDUM. The British Journal of Psychiatry : the Journal of Mental Science. 1. PMID 35505515 DOI: 10.1192/bjp.2022.55  0.378
2022 Liao C, Vuokila V, Catoire H, Akçimen F, Ross JP, Bourassa CV, Dion PA, Meijer IA, Rouleau GA. Transcriptome-wide association study reveals increased neuronal FLT3 expression is associated with Tourette's syndrome. Communications Biology. 5: 289. PMID 35354918 DOI: 10.1038/s42003-022-03231-0  0.807
2022 Cearns M, Amare AT, Schubert KO, Thalamuthu A, Frank J, Streit F, Adli M, Akula N, Akiyama K, Ardau R, Arias B, Aubry JM, Backlund L, Bhattacharjee AK, Bellivier F, ... ... Rouleau GA, et al. Using polygenic scores and clinical data for bipolar disorder patient stratification and lithium response prediction: machine learning approach. The British Journal of Psychiatry : the Journal of Mental Science. 1-10. PMID 35225756 DOI: 10.1192/bjp.2022.28  0.77
2022 Hop PJ, Zwamborn RAJ, Hannon E, Shireby GL, Nabais MF, Walker EM, van Rheenen W, van Vugt JJFA, Dekker AM, Westeneng HJ, Tazelaar GHP, van Eijk KR, Moisse M, Baird D, Al Khleifat A, ... ... Rouleau GA, et al. Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS. Science Translational Medicine. 14: eabj0264. PMID 35196023 DOI: 10.1126/scitranslmed.abj0264  0.66
2022 Kalman JL, Yoshida T, Andlauer TFM, Schulte EC, Adorjan K, Alda M, Ardau R, Aubry JM, Brosch K, Budde M, Chillotti C, Czerski PM, DePaulo RJ, Forstner A, Goes FS, ... ... Rouleau G, et al. Investigating the phenotypic and genetic associations between personality traits and suicidal behavior across major mental health diagnoses. European Archives of Psychiatry and Clinical Neuroscience. PMID 35146571 DOI: 10.1007/s00406-021-01366-5  0.655
2022 van Rheenen W, van der Spek RAA, Bakker MK, van Vugt JJFA, Hop PJ, Zwamborn RAJ, de Klein N, Westra HJ, Bakker OB, Deelen P, Shireby G, Hannon E, Moisse M, Baird D, Restuadi R, ... ... Rouleau GA, et al. Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology. Nature Genetics. PMID 35102318 DOI: 10.1038/s41588-022-01020-3  0.679
2022 Roy V, Ross JP, Pépin R, Cortez Ghio S, Brodeur A, Touzel Deschênes L, Le-Bel G, Phillips DE, Milot G, Dion PA, Guérin S, Germain L, Berthod F, Auger FA, Rouleau GA, et al. Moyamoya Disease Susceptibility Gene Regulates Endothelial Barrier Function. Stroke. STROKEAHA120032691. PMID 34991336 DOI: 10.1161/STROKEAHA.120.032691  0.677
2022 Liao C, Castonguay CE, Heilbron K, Vuokila V, Medeiros M, Houle G, Akçimen F, Ross JP, Catoire H, Diez-Fairen M, Kang J, Mueller SH, Girard SL, Hopfner F, Lorenz D, ... ... Rouleau GA, et al. Association of Essential Tremor With Novel Risk Loci: A Genome-Wide Association Study and Meta-analysis. Jama Neurology. PMID 34982113 DOI: 10.1001/jamaneurol.2021.4781  0.81
2021 Kalman JL, Olde Loohuis LM, Vreeker A, McQuillin A, Stahl EA, Ruderfer D, Grigoroiu-Serbanescu M, Panagiotaropoulou G, Ripke S, Bigdeli TB, Stein F, Meller T, Meinert S, Pelin H, Streit F, ... ... Rouleau G, et al. Characterisation of age and polarity at onset in bipolar disorder. The British Journal of Psychiatry : the Journal of Mental Science. 219: 659-669. PMID 35048876 DOI: 10.1192/bjp.2021.102  0.777
2021 van Rheenen W, van der Spek RAA, Bakker MK, van Vugt JJFA, Hop PJ, Zwamborn RAJ, de Klein N, Westra HJ, Bakker OB, Deelen P, Shireby G, Hannon E, Moisse M, Baird D, Restuadi R, ... ... Rouleau GA, et al. Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology. Nature Genetics. 53: 1636-1648. PMID 34873335 DOI: 10.1038/s41588-021-00973-1  0.704
2021 Mullins N, Kang J, Campos AI, Coleman JRI, Edwards AC, Galfalvy H, Levey DF, Lori A, Shabalin A, Starnawska A, Su MH, Watson HJ, Adams M, Awasthi S, Gandal M, ... ... Rouleau GA, et al. Dissecting the Shared Genetic Architecture of Suicide Attempt, Psychiatric Disorders, and Known Risk Factors. Biological Psychiatry. PMID 34861974 DOI: 10.1016/j.biopsych.2021.05.029  0.778
2021 Schubert KO, Thalamuthu A, Amare AT, Frank J, Streit F, Adl M, Akula N, Akiyama K, Ardau R, Arias B, Aubry JM, Backlund L, Bhattacharjee AK, Bellivier F, Benabarre A, ... ... Rouleau GA, et al. Combining schizophrenia and depression polygenic risk scores improves the genetic prediction of lithium response in bipolar disorder patients. Translational Psychiatry. 11: 606. PMID 34845190 DOI: 10.1038/s41398-021-01702-2  0.791
2021 He Q, Jantac Mam-Lam-Fook C, Chaignaud J, Danset-Alexandre C, Iftimovici A, Gradels Hauguel J, Houle G, Liao C, Dion PA, Rouleau GA, Kebir O, Krebs MO, Chaumette B. Influence of polygenic risk scores for schizophrenia and resilience on the cognition of individuals at-risk for psychosis. Translational Psychiatry. 11: 518. PMID 34628483 DOI: 10.1038/s41398-021-01624-z  0.753
2021 Le Clerc S, Lombardi L, Baune BT, Amare AT, Schubert KO, Hou L, Clark SR, Papiol S, Cearns M, Heilbronner U, Degenhardt F, Tekola-Ayele F, Hsu YH, Shekhtman T, Adli M, ... ... Rouleau GA, et al. HLA-DRB1 and HLA-DQB1 genetic diversity modulates response to lithium in bipolar affective disorders. Scientific Reports. 11: 17823. PMID 34497278 DOI: 10.1038/s41598-021-97140-7  0.783
2021 Morneau-Vaillancourt G, Andlauer TFM, Ouellet-Morin I, Paquin S, Brendgen MR, Vitaro F, Gouin JP, Séguin JR, Gagnon É, Cheesman R, Forget-Dubois N, Rouleau GA, Turecki G, Tremblay RE, Côté SM, et al. Polygenic scores differentially predict developmental trajectories of subtypes of social withdrawal in childhood. Journal of Child Psychology and Psychiatry, and Allied Disciplines. PMID 34085288 DOI: 10.1111/jcpp.13459  0.365
2021 Khayachi A, Ase A, Liao C, Kamesh A, Kuhlmann N, Schorova L, Chaumette B, Dion P, Alda M, Séguéla P, Rouleau G, Milnerwood A. Chronic lithium treatment alters the excitatory/ inhibitory balance of synaptic networks and reduces mGluR5-PKC signalling in mouse cortical neurons. Journal of Psychiatry & Neuroscience : Jpn. 46: E402-E414. PMID 34077150 DOI: 10.1503/jpn.200185  0.736
2021 Oliveira LM, Rastin T, Nimmo GAM, Ross JP, Dion PA, Zhang M, Nevay DL, Arkadir D, Gotkine M, Barnett C, Shoesmith CL, Zimran A, Rogaeva EA, Zinman L, Rouleau GA, et al. Occurrence of Amyotrophic Lateral Sclerosis in Type 1 Gaucher Disease. Neurology. Genetics. 7: e600. PMID 34017912 DOI: 10.1212/NXG.0000000000000600  0.658
2021 Mullins N, Forstner AJ, O'Connell KS, Coombes B, Coleman JRI, Qiao Z, Als TD, Bigdeli TB, Børte S, Bryois J, Charney AW, Drange OK, Gandal MJ, Hagenaars SP, Ikeda M, ... ... Rouleau GA, et al. Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology. Nature Genetics. PMID 34002096 DOI: 10.1038/s41588-021-00857-4  0.824
2021 Alfradique-Dunham I, Al-Ouran R, von Coelln R, Blauwendraat C, Hill E, Luo L, Stillwell A, Young E, Kaw A, Tan M, Liao C, Hernandez D, Pihlstrom L, Grosset D, Shulman LM, ... ... Rouleau GA, et al. Genome-Wide Association Study Meta-Analysis for Parkinson Disease Motor Subtypes. Neurology. Genetics. 7: e557. PMID 33987465 DOI: 10.1212/NXG.0000000000000557  0.622
2021 da Graça FF, Peluzzo TM, Bonadia LC, Martinez ARM, Diniz de Lima F, Pedroso JL, Barsottini OGP, Gama MTD, Akçimen F, Dion PA, Rouleau GA, Marques W, França MC. Diagnostic Yield of Whole Exome Sequencing for Adults with Ataxia: a Brazilian Perspective. Cerebellum (London, England). PMID 33956305 DOI: 10.1007/s12311-021-01268-1  0.749
2021 Estiar MA, Yu E, Haj Salem I, Ross JP, Mufti K, Akçimen F, Leveille E, Spiegelman D, Ruskey JA, Asayesh F, Dagher A, Yoon G, Tarnopolsky M, Boycott KM, Dupre N, ... ... Rouleau GA, et al. Evidence for Non-Mendelian Inheritance in Spastic Paraplegia 7. Movement Disorders : Official Journal of the Movement Disorder Society. PMID 33598982 DOI: 10.1002/mds.28528  0.804
2021 Stone W, Nunes A, Akiyama K, Akula N, Ardau R, Aubry JM, Backlund L, Bauer M, Bellivier F, Cervantes P, Chen HC, Chillotti C, Cruceanu C, Dayer A, Degenhardt F, ... ... Rouleau G, et al. Prediction of lithium response using genomic data. Scientific Reports. 11: 1155. PMID 33441847 DOI: 10.1038/s41598-020-80814-z  0.725
2021 Nunes A, Stone W, Ardau R, Berghöfer A, Bocchetta A, Chillotti C, Deiana V, Degenhardt F, Forstner AJ, Garnham JS, Grof E, Hajek T, Manchia M, Mattheisen M, McMahon F, ... ... Rouleau G, et al. Exemplar scoring identifies genetically separable phenotypes of lithium responsive bipolar disorder. Translational Psychiatry. 11: 36. PMID 33431852 DOI: 10.1038/s41398-020-01148-y  0.66
2021 Mufti K, Yu E, Rudakou U, Krohn L, Ruskey JA, Asayesh F, Laurent SB, Spiegelman D, Arnulf I, Hu MTM, Montplaisir JY, Gagnon JF, Desautels A, Dauvilliers Y, Gigli GL, ... ... Rouleau GA, et al. Novel Associations of and with Rapid Eye Movement Sleep Behavior Disorder. Neurology. PMID 33397775 DOI: 10.1212/WNL.0000000000011464  0.595
2020 Bakker MK, van der Spek RAA, van Rheenen W, Morel S, Bourcier R, Hostettler IC, Alg VS, van Eijk KR, Koido M, Akiyama M, Terao C, Matsuda K, Walters RG, Lin K, Li L, ... ... Rouleau GA, et al. Author Correction: Genome-wide association study of intracranial aneurysms identifies 17 risk loci and genetic overlap with clinical risk factors. Nature Genetics. PMID 33353957 DOI: 10.1038/s41588-020-00760-4  0.628
2020 Diez-Fairen M, Houle G, Ortega-Cubero S, Bandres-Ciga S, Alvarez I, Carcel M, Ibañez L, Fernandez MV, Budde JP, Trotta JR, Tonda R, Chong JX, Bamshad MJ, Nickerson DA, ... ... Rouleau GA, et al. Exome-wide rare variant analysis in familial essential tremor. Parkinsonism & Related Disorders. 82: 109-116. PMID 33279834 DOI: 10.1016/j.parkreldis.2020.11.021  0.71
2020 Bakker MK, van der Spek RAA, van Rheenen W, Morel S, Bourcier R, Hostettler IC, Alg VS, van Eijk KR, Koido M, Akiyama M, Terao C, Matsuda K, Walters RG, Lin K, Li L, ... ... Rouleau GA, et al. Genome-wide association study of intracranial aneurysms identifies 17 risk loci and genetic overlap with clinical risk factors. Nature Genetics. PMID 33199917 DOI: 10.1038/s41588-020-00725-7  0.626
2020 Gauquelin L, Hartley T, Tarnopolsky M, Dyment DA, Brais B, Geraghty MT, Tétreault M, Ahmed S, Rojas S, Choquet K, Majewski J, Bernier F, Innes AM, Rouleau G, Suchowersky O, et al. Channelopathies Are a Frequent Cause of Genetic Ataxias Associated with Cerebellar Atrophy. Movement Disorders Clinical Practice. 7: 940-949. PMID 33163565 DOI: 10.1002/Mdc3.13086  0.734
2020 Akçimen F, Ross JP, Liao C, Spiegelman D, Dion PA, Rouleau GA. Expanded CAG Repeats in ATXN1, ATXN2, ATXN3, and HTT in the 1000 Genomes Project. Movement Disorders : Official Journal of the Movement Disorder Society. PMID 33159825 DOI: 10.1002/mds.28341  0.794
2020 Liao C, Akçimen F, Diez-Fairen M, Houle G, Ross JP, Schmilovich Z, Spiegelman D, Vuokila V, Catoire H, Meijer IA, Pastor P, Rajput A, Dion PA, Rouleau GA. Assessing the NOTCH2NLC GGC expansion in European patients with essential tremor. Brain : a Journal of Neurology. PMID 33146671 DOI: 10.1093/brain/awaa291  0.765
2020 Mufti K, Rudakou U, Yu E, Krohn L, Ruskey JA, Asayesh F, Laurent SB, Spiegelman D, Arnulf I, Hu MTM, Montplaisir JY, Gagnon JF, Desautels A, Dauvilliers Y, Gigli GL, ... ... Rouleau GA, et al. Comprehensive Analysis of Familial Parkinsonism Genes in Rapid-Eye-Movement Sleep Behavior Disorder. Movement Disorders : Official Journal of the Movement Disorder Society. PMID 33001463 DOI: 10.1002/mds.28318  0.591
2020 Liao C, Sarayloo F, Vuokila V, Rochefort D, Akçimen F, Diamond S, Houle G, Laporte AD, Spiegelman D, He Q, Catoire H, Dion PA, Rouleau GA. Transcriptomic Changes Resulting From Overexpression Identify Pathways Potentially Relevant to Essential Tremor. Frontiers in Genetics. 11: 813. PMID 32849812 DOI: 10.3389/Fgene.2020.00813  0.804
2020 Course MM, Gudsnuk K, Smukowski SN, Winston K, Desai N, Ross JP, Sulovari A, Bourassa CV, Spiegelman D, Couthouis J, Yu CE, Tsuang DW, Jayadev S, Kay MA, Gitler AD, ... ... Rouleau GA, et al. Evolution of a Human-Specific Tandem Repeat Associated with ALS. American Journal of Human Genetics. PMID 32750315 DOI: 10.1016/J.Ajhg.2020.07.004  0.688
2020 Bis-Brewer DM, Gan-Or Z, Sleiman P, Hakonarson H, Fazal S, Courel S, Cintra V, Tao F, Estiar MA, Tarnopolsky M, Boycott KM, Yoon G, Suchowersky O, Dupré N, ... ... Rouleau G, et al. Assessing non-Mendelian inheritance in inherited axonopathies. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 32741968 DOI: 10.1038/S41436-020-0924-0  0.393
2020 Akçimen F, Sarayloo F, Liao C, Ross JP, Oliveira RB, Dion PA, Rouleau GA. Transcriptome-wide association study for restless legs syndrome identifies new susceptibility genes. Communications Biology. 3: 373. PMID 32651461 DOI: 10.1038/s42003-020-1105-z  0.813
2020 Chaumette B, Sengupta SM, Lepage M, Malla A, Iyer SN, Kebir O, Dion PA, Rouleau GA, Krebs MO, Shah JL, Joober R. A polymorphism in the glutamate metabotropic receptor 7 is associated with cognitive deficits in the early phases of psychosis. Schizophrenia Research. PMID 32624350 DOI: 10.1016/J.Schres.2020.06.019  0.324
2020 Krohn L, Ruskey JA, Rudakou U, Leveille E, Asayesh F, Hu MTM, Arnulf I, Dauvilliers Y, Högl B, Stefani A, Monaca CC, Beatriz A, Plazzi G, Antelmi E, Ferini-Strambi L, ... ... Rouleau GA, et al. variants in REM sleep behavior disorder: a multicenter study. Neurology. PMID 32591474 DOI: 10.1212/Wnl.0000000000010042  0.614
2020 Sarayloo F, Spiegelman D, Rochefort D, Akçimen F, De Barros Oliveira R, Dion PA, Rouleau GA. SKOR1 has a transcriptional regulatory role on genes involved in pathways related to restless legs syndrome. European Journal of Human Genetics : Ejhg. PMID 32572201 DOI: 10.1038/S41431-020-0670-4  0.804
2020 Ross JP, Dion PA, Rouleau GA. Exome sequencing in genetic disease: recent advances and considerations. F1000research. 9. PMID 32431803 DOI: 10.12688/F1000Research.19444.1  0.679
2020 Rudakou U, Futhey NC, Krohn L, Ruskey JA, Heilbron K, Cannon P, Alam A, Arnulf I, Hu MTM, Montplaisir JY, Gagnon JF, Desautels A, Dauvilliers Y, Toffoli M, ... ... Rouleau GA, et al. SMPD1 variants do not have a major role in rapid eye movement sleep behavior disorder. Neurobiology of Aging. PMID 32409254 DOI: 10.1016/J.Neurobiolaging.2020.04.005  0.65
2020 Ross JP, Leblond CS, Laurent SB, Spiegelman D, Dionne-Laporte A, Camu W, Dupré N, Dion PA, Rouleau GA. Oligogenicity, C9orf72 expansion, and variant severity in ALS. Neurogenetics. PMID 32385536 DOI: 10.1007/S10048-020-00612-7  0.694
2020 Soubannier V, Maussion G, Chaineau M, Sigutova V, Rouleau G, Durcan TM, Stifani S. Characterization of human iPSC-derived astrocytes with potential for disease modeling and drug discovery. Neuroscience Letters. 135028. PMID 32380146 DOI: 10.1016/J.Neulet.2020.135028  0.667
2020 Ouled Amar Bencheikh B, Senkevich K, Rudakou U, Yu E, Mufti K, Ruskey JA, Asayesh F, Laurent SB, Spiegelman D, Fahn S, Waters C, Monchi O, Dauvilliers Y, Espay AJ, Dupré N, ... ... Rouleau GA, et al. Variants in the Niemann-Pick type C gene NPC1 are not associated with Parkinson's disease. Neurobiology of Aging. PMID 32371106 DOI: 10.1016/J.Neurobiolaging.2020.03.021  0.328
2020 Stern S, Sarkar A, Galor D, Stern T, Mei A, Stern Y, Mendes APD, Randolph-Moore L, Rouleau G, Bang AG, Santos R, Alda M, Marchetto MC, Gage FH. A Physiological Instability Displayed in Hippocampal Neurons Derived From Lithium-Nonresponsive Bipolar Disorder Patients. Biological Psychiatry. PMID 32278494 DOI: 10.1016/J.Biopsych.2020.01.020  0.598
2020 Liao C, Sarayloo F, Rochefort D, Houle G, Akçimen F, He Q, Laporte AD, Spiegelman D, Poewe W, Berg D, Müller S, Hopfner F, Deuschl G, Kuhlenbäeumer G, Rajput A, ... ... Rouleau GA, et al. Multiomics Analyses Identify Genes and Pathways Relevant to Essential Tremor. Movement Disorders : Official Journal of the Movement Disorder Society. PMID 32249994 DOI: 10.1002/Mds.28031  0.799
2020 Beaudin M, Sellami L, Martel C, Touzel-Deschênes L, Houle G, Martineau L, Lacroix K, Lavallée A, Chrestian N, Rouleau GA, Gros-Louis F, Laforce R, Dupré N. Characterization of the phenotype with cognitive impairment and protein mislocalization in SCA34. Neurology. Genetics. 6: e403. PMID 32211516 DOI: 10.1212/Nxg.0000000000000403  0.657
2020 Akçimen F, Martins S, Liao C, Bourassa CV, Catoire H, Nicholson GA, Riess O, Raposo M, França MC, Vasconcelos J, Lima M, Lopes-Cendes I, Saraiva-Pereira ML, Jardim LB, Sequeiros J, ... ... Rouleau GA, et al. Genome-wide association study identifies genetic factors that modify age at onset in Machado-Joseph disease. Aging. 12. PMID 32205469 DOI: 10.18632/aging.102825  0.825
2020 Amare AT, Schubert KO, Hou L, Clark SR, Papiol S, Cearns M, Heilbronner U, Degenhardt F, Tekola-Ayele F, Hsu YH, Shekhtman T, Adli M, Akula N, Akiyama K, Ardau R, ... ... Rouleau GA, et al. Association of polygenic score for major depression with response to lithium in patients with bipolar disorder. Molecular Psychiatry. PMID 32203155 DOI: 10.1038/S41380-020-0689-5  0.796
2020 Rudakou U, Ruskey JA, Krohn L, Laurent SB, Spiegelman D, Greenbaum L, Yahalom G, Desautels A, Montplaisir JY, Fahn S, Waters CH, Levy O, Kehoe CM, Narayan S, Dauvilliers Y, ... ... Rouleau GA, et al. Analysis of common and rare variants in late-onset Parkinson disease. Neurology. Genetics. 6: 385. PMID 32042909 DOI: 10.1212/Nxg.0000000000000385  0.617
2020 Krohn L, Wu RY, Heilbron K, Ruskey JA, Laurent SB, Blauwendraat C, Alam A, Arnulf I, Hu MTM, Dauvilliers Y, Högl B, Toft M, Bjørnarå KA, Stefani A, Holzknecht E, ... ... Rouleau GA, et al. Fine-mapping of SNCA in REM sleep behavior disorder and overt synucleinopathies. Annals of Neurology. PMID 31976583 DOI: 10.1002/Ana.25687  0.618
2019 Gan-Or Z, Rao T, Leveille E, Degroot C, Chouinard S, Cicchetti F, Dagher A, Das S, Desautels A, Drouin-Ouellet J, Durcan T, Gagnon JF, Genge A, Karamchandani J, Lafontaine AL, ... ... Rouleau GA, et al. The Quebec Parkinson Network: A Researcher-Patient Matching Platform and Multimodal Biorepository. Journal of Parkinson's Disease. PMID 31868683 DOI: 10.3233/Jpd-191775  0.62
2019 Akçimen F, Ross JP, Bourassa CV, Liao C, Rochefort D, Gama MTD, Dicaire MJ, Barsottini OG, Brais B, Pedroso JL, Dion PA, Rouleau GA. Investigation of the Repeat Expansion in a Canadian and a Brazilian Ataxia Cohort: Identification of Novel Conformations. Frontiers in Genetics. 10: 1219. PMID 31824583 DOI: 10.3389/Fgene.2019.01219  0.802
2019 Stern S, Sarkar A, Stern T, Mei A, Mendes APD, Stern Y, Goldberg G, Galor D, Nguyen T, Randolph-Moore L, Kim Y, Rouleau G, Bang A, Alda M, Santos R, et al. Mechanisms Underlying the Hyperexcitability of CA3 and Dentate Gyrus Hippocampal Neurons Derived From Patients With Bipolar Disorder. Biological Psychiatry. PMID 31732108 DOI: 10.1016/J.Biopsych.2019.09.018  0.62
2019 Sarayloo F, Dionne-Laporte A, Catoire H, Rochefort D, Houle G, Ross JP, Akçimen F, Barros Oliveira R, Turecki G, Dion PA, Rouleau GA. Mineral absorption is an enriched pathway in a brain region of restless legs syndrome patients with reduced MEIS1 expression. Plos One. 14: e0225186. PMID 31725784 DOI: 10.1371/Journal.Pone.0225186  0.8
2019 Akçimen F, Ross JP, Sarayloo F, Liao C, De Barros Oliveira R, Ruskey JA, Bourassa CV, Dion PA, Xiong L, Gan-Or Z, Rouleau GA. Genetic and epidemiological characterization of restless legs syndrome in Québec. Sleep. PMID 31665514 DOI: 10.1093/Sleep/Zsz265  0.804
2019 Krohn L, Öztürk TN, Vanderperre B, Ouled Amar Bencheikh B, Ruskey JA, Laurent SB, Spiegelman D, Postuma RB, Arnulf I, Hu MTM, Dauvilliers Y, Högl B, Stefani A, Monaca CC, Plazzi G, ... ... Rouleau GA, et al. Genetic, structural and functional evidence link TMEM175 to synucleinopathies. Annals of Neurology. PMID 31658403 DOI: 10.1002/Ana.25629  0.652
2019 Accogli A, Calabretta S, St-Onge J, Boudrahem-Addour N, Dionne-Laporte A, Joset P, Azzarello-Burri S, Rauch A, Krier J, Fieg E, Pallais JC, McConkie-Rosell A, McDonald M, Freedman SF, ... ... Rouleau GA, et al. De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects. American Journal of Human Genetics. 105: 854-868. PMID 31585109 DOI: 10.1016/J.Ajhg.2019.09.005  0.301
2019 Liao C, Laporte AD, Spiegelman D, Akçimen F, Joober R, Dion PA, Rouleau GA. Transcriptome-wide association study of attention deficit hyperactivity disorder identifies associated genes and phenotypes. Nature Communications. 10: 4450. PMID 31575856 DOI: 10.1038/S41467-019-12450-9  0.808
2019 Sarayloo F, Dion PA, Rouleau GA. and Restless Legs Syndrome: A Comprehensive Review. Frontiers in Neurology. 10: 935. PMID 31551905 DOI: 10.3389/Fneur.2019.00935  0.821
2019 Zhou S, Xie P, Quoibion A, Ambalavanan A, Dionne-Laporte A, Spiegelman D, Bourassa CV, Xiong L, Dion PA, Rouleau GA. Genetic architecture and adaptations of Nunavik Inuit. Proceedings of the National Academy of Sciences of the United States of America. PMID 31332017 DOI: 10.1073/Pnas.1810388116  0.666
2019 Beaudin M, Matilla-Dueñas A, Soong BW, Pedroso JL, Barsottini OG, Mitoma H, Tsuji S, Schmahmann JD, Manto M, Rouleau GA, Klein C, Dupre N. The Classification of Autosomal Recessive Cerebellar Ataxias: a Consensus Statement from the Society for Research on the Cerebellum and Ataxias Task Force. Cerebellum (London, England). PMID 31267374 DOI: 10.1007/S12311-019-01052-2  0.36
2019 McNeil-Gauthier AL, Brais B, Rouleau G, Anoja N, Ducharme S. Successful treatment of psychosis in a patient with Kufor-Rakeb syndrome with low dose aripiprazole: a case report. Neurocase. 1-5. PMID 31232173 DOI: 10.1080/13554794.2019.1625928  0.559
2019 Mullins N, Bigdeli TB, Børglum AD, Coleman JRI, Demontis D, Mehta D, Power RA, Ripke S, Stahl EA, Starnawska A, Anjorin A, Corvin A, Sanders AR, Forstner AJ, ... ... Rouleau GA, et al. GWAS of Suicide Attempt in Psychiatric Disorders and Association With Major Depression Polygenic Risk Scores. The American Journal of Psychiatry. appiajp201918080957. PMID 31164008 DOI: 10.1176/Appi.Ajp.2019.18080957  0.672
2019 Diez-Fairen M, Bandres-Ciga S, Houle G, Nalls MA, Girard SL, Dion PA, Blauwendraat C, Singleton AB, Rouleau GA, Pastor P. Genome-wide estimates of heritability and genetic correlations in essential tremor. Parkinsonism & Related Disorders. PMID 31085086 DOI: 10.1016/J.Parkreldis.2019.05.002  0.684
2019 Stahl EA, Breen G, Forstner AJ, McQuillin A, Ripke S, Trubetskoy V, Mattheisen M, Wang Y, Coleman JRI, Gaspar HA, de Leeuw CA, Steinberg S, Pavlides JMW, Trzaskowski M, Byrne EM, ... ... Rouleau GA, et al. Genome-wide association study identifies 30 loci associated with bipolar disorder. Nature Genetics. PMID 31043756 DOI: 10.1038/S41588-019-0397-8  0.812
2019 Ross JP, Leblond CS, Catoire H, Volkening K, Strong M, Zinman L, Robertson J, Dion PA, Rouleau GA. Somatic expansion of the hexanucleotide repeat does not occur in ALS spinal cord tissues. Neurology. Genetics. 5: e317. PMID 31041398 DOI: 10.1212/Nxg.0000000000000317  0.648
2019 Callaghan DB, Rogic S, Tan PPC, Calli K, Qiao Y, Baldwin R, Jacobson M, Belmadani M, Holmes N, Yu C, Li Y, Li Y, Kurtzke FE, Kuzeljevic B, Yu A, ... ... Rouleau G, et al. Whole genome sequencing and variant discovery in the ASPIRE autism spectrum disorder cohort. Clinical Genetics. PMID 31038196 DOI: 10.1111/Cge.13556  0.423
2019 Spataro R, Kousi M, Farhan SMK, Willer JR, Ross JP, Dion PA, Rouleau GA, Daly MJ, Neale BM, La Bella V, Katsanis N. Mutations in ATP13A2 (PARK9) are associated with an amyotrophic lateral sclerosis-like phenotype, implicating this locus in further phenotypic expansion. Human Genomics. 13: 19. PMID 30992063 DOI: 10.1186/S40246-019-0203-9  0.732
2019 Gelfman S, Dugger SA, Araujo Martins Moreno C, Ren Z, Wolock CJ, Shneider N, Phatnani H, Cirulli ET, Lasseigne BN, Harris T, Maniatis T, Rouleau G, Brown RH, Gitler AD, Myers RM, et al. A new approach for rare variation collapsing on functional protein domains implicates specific genic regions in ALS. Genome Research. PMID 30940688 DOI: 10.1101/Gr.243592.118  0.363
2019 Farazi Fard MA, Rebelo AP, Buglo E, Nemati H, Dastsooz H, Gehweiler I, Reich S, Reichbauer J, Quintáns B, Ordóñez-Ugalde A, Cortese A, Courel S, Abreu L, Powell E, Danzi M, ... ... Rouleau GA, et al. Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia. American Journal of Human Genetics. PMID 30929741 DOI: 10.1016/J.Ajhg.2019.03.001  0.424
2019 Vosberg DE, Beaulé V, Torres-Berrío A, Cooke D, Chalupa A, Jaworska N, Cox SM, Larcher K, Zhang Y, Allard D, Durand F, Dagher A, Benkelfat C, Srour M, Tampieri D, ... ... Rouleau G, et al. Neural Function in DCC Mutation Carriers with and without Mirror Movements. Annals of Neurology. PMID 30666715 DOI: 10.1002/Ana.25418  0.307
2019 He Q, Kebir O, Houle G, Liao C, Dion PA, Rouleau GA, Krebs M, Chaumette B. T80SCHIZOPHRENIA POLYGENIC RISK SCORE CORRELATES WITH DECREASED COGNITIVE FUNCTIONS IN ULTRA-HIGH-RISK INDIVIDUALS FOR PSYCHOSIS European Neuropsychopharmacology. 29: S258-S259. DOI: 10.1016/J.Euroneuro.2019.08.279  0.752
2019 Chaumette B, Ferrafiat V, Ambalavanan A, Goldenberg A, Dionne-Laporte A, Spiegelman D, Dion P, Gerardin P, Laurent C, Cohen D, Rapoport J, Rouleau G. 51IDENTIFICATION OF NEW GENES ASSOCIATED WITH CHILDHOOD-ONSET SCHIZOPHRENIA: ATP1A3 AND THE FXYD GENE FAMILY European Neuropsychopharmacology. 29: S1096. DOI: 10.1016/J.Euroneuro.2018.08.058  0.34
2018 Akçimen F, Spiegelman D, Dionne-Laporte A, Gan-Or Z, Dion PA, Rouleau GA. Screening of novel restless legs syndrome-associated genes in French-Canadian families. Neurology. Genetics. 4: e296. PMID 30637332 DOI: 10.1212/Nxg.0000000000000296  0.756
2018 Lemay P, De Marco P, Traverso M, Merello E, Dionne-Laporte A, Spiegelman D, Henrion É, Diallo O, Audibert F, Michaud JL, Cama A, Rouleau GA, Kibar Z, Capra V. Whole exome sequencing identifies novel predisposing genes in neural tube defects. Molecular Genetics & Genomic Medicine. PMID 30415495 DOI: 10.1002/Mgg3.467  0.303
2018 Leveille E, Gonorazky HD, Rioux MF, Hazrati LN, Ruskey JA, Carnevale A, Spiegelman D, Dionne-Laporte A, Rouleau GA, Yoon G, Gan-Or Z. Triple A syndrome presenting as complicated hereditary spastic paraplegia. Molecular Genetics & Genomic Medicine. PMID 30381913 DOI: 10.1002/Mgg3.492  0.307
2018 Ambalavanan A, Chaumette B, Zhou S, Xie P, He Q, Spiegelman D, Dionne-Laporte A, Bourassa CV, Therrien M, Rochefort D, Xiong L, Dion PA, Joober R, Rapoport JL, Girard SL, ... Rouleau GA, et al. Exome sequencing of sporadic childhood-onset schizophrenia suggests the contribution of X-linked genes in males. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. PMID 30378261 DOI: 10.1002/Ajmg.B.32683  0.67
2018 Liao C, Houle G, He Q, Laporte AD, Girard SL, Dion PA, Rouleau GA. Investigating the association and causal relationship between restless legs syndrome and essential tremor. Parkinsonism & Related Disorders. PMID 30366831 DOI: 10.1016/J.Parkreldis.2018.10.022  0.769
2018 Schmouth JF, Houle G, Ambalavanan A, Leblond CS, Spiegelman D, Laurent SB, Bourassa CV, Panisset M, Chouinard S, Dupré N, Vilariño-Güell C, Rajput A, Dion PA, Rouleau GA. Absence of Mutation Enrichment for Genes Phylogenetically Conserved in the Olivocerebellar Motor Circuitry in a Cohort of Canadian Essential Tremor Cases. Molecular Neurobiology. PMID 30315477 DOI: 10.1007/S12035-018-1369-1  0.728
2018 El Gewely M, Welman M, Xiong L, Yin S, Catoire H, Rouleau G, Montplaisir JY, Desautels A, Warby SC. Reassessing GWAS findings for the shared genetic basis of insomnia and restless legs syndrome. Sleep. PMID 30215811 DOI: 10.1093/Sleep/Zsy164  0.677
2018 Monlong J, Cossette P, Meloche C, Rouleau G, Girard SL, Bourque G. Human copy number variants are enriched in regions of low mappability. Nucleic Acids Research. 46: 7236-7249. PMID 30137632 DOI: 10.1093/Nar/Gky538  0.347
2018 Catoire H, Sarayloo F, Mourabit Amari K, Apuzzo S, Grant A, Rochefort D, Xiong L, Montplaisir J, Earley CJ, Turecki G, Dion PA, Rouleau GA. A direct interaction between two Restless Legs Syndrome predisposing genes: MEIS1 and SKOR1. Scientific Reports. 8: 12173. PMID 30111810 DOI: 10.1038/S41598-018-30665-6  0.819
2018 Ouled Amar Bencheikh B, Leveille E, Ruskey JA, Spiegelman D, Liong C, Fon EA, Rouleau GA, Dauvilliers Y, Dupre N, Alcalay RN, Gan-Or Z. Sequencing of the GBA coactivator, Saposin C, in Parkinson disease. Neurobiology of Aging. PMID 30037697 DOI: 10.1016/J.Neurobiolaging.2018.06.034  0.309
2018 Abu-Baker A, Parker A, Ramalingam S, Laganiere J, Brais B, Neri C, Dion P, Rouleau G. Valproic acid is protective in cellular and worm models of oculopharyngeal muscular dystrophy. Neurology. PMID 30006409 DOI: 10.1212/Wnl.0000000000005942  0.503
2018 Kalman JL, Papiol S, Forstner AJ, Heilbronner U, Degenhardt F, Strohmaier J, Adli M, Adorjan K, Akula N, Alda M, Anderson-Schmidt H, Andlauer TF, Anghelescu IG, Ardau R, Arias B, ... ... Rouleau GA, et al. Investigating polygenic burden in age at disease onset in bipolar disorder: Findings from an international multicentric study. Bipolar Disorders. PMID 29956436 DOI: 10.1111/Bdi.12659  0.803
2018 Anttila V, Bulik-Sullivan B, Finucane HK, Walters RK, Bras J, Duncan L, Escott-Price V, Falcone GJ, Gormley P, Malik R, Patsopoulos NA, Ripke S, Wei Z, Yu D, ... ... Rouleau GA, et al. Analysis of shared heritability in common disorders of the brain. Science (New York, N.Y.). 360. PMID 29930110 DOI: 10.1126/Science.Aap8757  0.802
2018 Reinbold CS, Forstner AJ, Hecker J, Fullerton JM, Hoffmann P, Hou L, Heilbronner U, Degenhardt F, Adli M, Akiyama K, Akula N, Ardau R, Arias B, Backlund L, Benabarre A, ... ... Rouleau GA, et al. Analysis of the Influence of microRNAs in Lithium Response in Bipolar Disorder. Frontiers in Psychiatry. 9: 207. PMID 29904359 DOI: 10.3389/Fpsyt.2018.00207  0.777
2018 Chaumette B, Ferrafiat V, Ambalavanan A, Goldenberg A, Dionne-Laporte A, Spiegelman D, Dion PA, Gerardin P, Laurent C, Cohen D, Rapoport J, Rouleau GA. Missense variants in ATP1A3 and FXYD gene family are associated with childhood-onset schizophrenia. Molecular Psychiatry. PMID 29895895 DOI: 10.1038/S41380-018-0103-8  0.386
2018 Walcott BP, Winkler EA, Zhou S, Birk H, Guo D, Koch MJ, Stapleton CJ, Spiegelman D, Dionne-Laporte A, Dion PA, Kahle KT, Rouleau GA, Lawton MT. Identification of a rare pathway mutation in a non-syndromic human brain arteriovenous malformation via exome sequencing. Human Genome Variation. 5: 18001. PMID 29844917 DOI: 10.1038/Hgv.2018.1  0.661
2018 Li J, Ruskey JA, Arnulf I, Dauvilliers Y, Hu MTM, Högl B, Leblond CS, Zhou S, Ambalavanan A, Ross JP, Bourassa CV, Spiegelman D, Laurent SB, Stefani A, Charley Monaca C, ... ... Rouleau GA, et al. Full sequencing and haplotype analysis of MAPT in Parkinson's disease and rapid eye movement sleep behavior disorder. Movement Disorders : Official Journal of the Movement Disorder Society. PMID 29756641 DOI: 10.1002/Mds.27385  0.782
2018 Vosberg DE, Zhang Y, Menegaux A, Chalupa A, Manitt C, Zehntner S, Eng C, DeDuck K, Allard D, Durand F, Dagher A, Benkelfat C, Srour M, Joober R, Lepore F, ... Rouleau G, et al. Mesocorticolimbic Connectivity and Volumetric Alterations in Mutation Carriers. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. PMID 29712788 DOI: 10.1523/Jneurosci.3251-17.2018  0.326
2018 Lyahyai J, Bencheikh BOA, Elalaoui SC, Mansouri M, Boualla L, DIonne-Laporte A, Spiegelman D, Dion PA, Cossette P, Rouleau GA, Sefiani A. Correction to: Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report. Bmc Pediatrics. 18: 138. PMID 29665810 DOI: 10.1186/S12887-018-1114-Y  0.306
2018 Wang B, Bao S, Zhang Z, Zhou X, Wang J, Fan Y, Zhang Y, Li Y, Chen L, Jia Y, Li J, Li M, Zheng W, Mu N, Wang L, ... ... Rouleau GA, et al. A rare variant in MLKL confers susceptibility to ApoE ɛ4-negative Alzheimer's disease in Hong Kong Chinese population. Neurobiology of Aging. PMID 29656768 DOI: 10.1016/J.Neurobiolaging.2018.03.006  0.674
2018 Monlong J, Girard SL, Meloche C, Cadieux-Dion M, Andrade DM, Lafreniere RG, Gravel M, Spiegelman D, Dionne-Laporte A, Boelman C, Hamdan FF, Michaud JL, Rouleau G, Minassian BA, Bourque G, et al. Global characterization of copy number variants in epilepsy patients from whole genome sequencing. Plos Genetics. 14: e1007285. PMID 29649218 DOI: 10.1371/Journal.Pgen.1007285  0.342
2018 Ouled Amar Bencheikh B, Ruskey JA, Arnulf I, Dauvilliers Y, Monaca CC, De Cock VC, Gagnon JF, Spiegelman D, Hu MTM, Högl B, Stefani A, Ferini-Strambi L, Plazzi G, Antelmi E, Young P, ... ... Rouleau GA, et al. LRRK2 protective haplotype and full sequencing study in REM sleep behavior disorder. Parkinsonism & Related Disorders. PMID 29576439 DOI: 10.1016/J.Parkreldis.2018.03.019  0.304
2018 Nicolas A, Kenna KP, Renton AE, Ticozzi N, Faghri F, Chia R, Dominov JA, Kenna BJ, Nalls MA, Keagle P, Rivera AM, van Rheenen W, Murphy NA, van Vugt JJFA, Geiger JT, ... ... Rouleau GA, et al. Genome-wide Analyses Identify KIF5A as a Novel ALS Gene. Neuron. 97: 1268-1283.e6. PMID 29566793 DOI: 10.1016/J.Neuron.2018.02.027  0.388
2018 Zhou S, Gan-Or Z, Ambalavanan A, Lai D, Xie P, Bourassa CV, Strong S, Ross JP, Dionne-Laporte A, Spiegelman D, Dupré N, Foroud TM, Xiong L, Dion PA, Rouleau GA. Genome-wide association analysis identifies new candidate risk loci for familial intracranial aneurysm in the French-Canadian population. Scientific Reports. 8: 4356. PMID 29531279 DOI: 10.1038/S41598-018-21603-7  0.802
2018 Gauthier J, Meijer IA, Lessel D, Mencacci NE, Krainc D, Hempel M, Tsiakas K, Prokisch H, Rossignol E, Helm MH, Rodan LH, Karamchandani J, Carecchio M, Lubbe SJ, Telegrafi A, ... ... Rouleau GA, et al. Recessive mutations in VPS13D cause childhood-onset movement disorders. Annals of Neurology. PMID 29518281 DOI: 10.1002/Ana.25204  0.369
2018 Lyahyai J, Oulad Amar Bencheikh B, Elalaoui SC, Mansouri M, Boualla L, DIonne-Laporte A, Spiegelman D, Dion PA, Cossette P, Rouleau GA, Sefiani A. Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report. Bmc Pediatrics. 18: 90. PMID 29486744 DOI: 10.1186/S12887-018-1063-5  0.335
2018 Zhou S, Dion PA, Rouleau GA. Genetics of Intracranial Aneurysms. Stroke. PMID 29437983 DOI: 10.1161/Strokeaha.117.018152  0.612
2018 Accogli A, Hamdan FF, Poulin C, Nassif C, Rouleau GA, Michaud JL, Srour M. A novel homozygous AP4B1 mutation in two brothers with AP-4 deficiency syndrome and ocular anomalies. American Journal of Medical Genetics. Part A. PMID 29430868 DOI: 10.1002/Ajmg.A.38628  0.354
2018 Mohtashami S, He Q, Ruskey JA, Zhou S, Dion PA, Allen RP, Earley CJ, Fon EA, Xiong L, Dupre N, Dauvilliers Y, Rouleau GA, Gan-Or Z. TOX3 Variants Are Involved in Restless Legs Syndrome and Parkinson's Disease with Opposite Effects. Journal of Molecular Neuroscience : Mn. PMID 29404899 DOI: 10.1007/S12031-018-1031-4  0.644
2018 Ross JP, Mohtashami S, Leveille E, Johnson AM, Xiong L, Dion PA, Fon E, Dauvilliers Y, Dupré N, Rouleau GA, Gan-Or Z. Association study of essential tremor genetic loci in Parkinson's disease. Neurobiology of Aging. PMID 29398123 DOI: 10.1016/J.Neurobiolaging.2018.01.001  0.695
2018 El Gewely M, Melanie W, Lan X, Sophie Y, Rouleau G, Montplaisir J, Desautels A, Warby S. 0690 The Association Of Meis1 Gene In Restless Leg Syndrome And Rls Related Phenotypes But Not With Chronic Insomnia Disorder Sleep. 41: A255-A256. DOI: 10.1093/Sleep/Zsy061.689  0.667
2018 Ferrafiat V, Chaumette B, Ambalavanan A, Gerardin P, Laurent C, Cohen D, Rapoport JL, Rouleau G. 3.68 Missense Variants in the ATP1A3 and FXYD Gene Family are Associated With Childhood-Onset Schizophrenia Journal of the American Academy of Child & Adolescent Psychiatry. 57: S204. DOI: 10.1016/J.Jaac.2018.09.226  0.342
2017 Khoury S, Segal J, Parisien M, Noreau A, Dion P, Benavides R, Giguère JF, Denis R, Belfer I, Diatchenko L, Rouleau GA, Lavigne GJ. Post-concussion symptoms and chronic pain after mild traumatic brain injury are modulated by multiple locus effect in the gene through the expression of antisense: A pilot prospective control study. Canadian Journal of Pain = Revue Canadienne De La Douleur. 1: 112-126. PMID 35005347 DOI: 10.1080/24740527.2017.1362942  0.671
2017 Houle G, Ambalavanan A, Schmouth JF, Leblond CS, Spiegelman D, Laurent SB, Bourassa CV, Grayson C, Panisset M, Chouinard S, Dupré N, Vilariño-Güell C, Rajput A, Girard SL, Dion PA, ... Rouleau GA, et al. No rare deleterious variants from , , and are associated with essential tremor. Neurology. Genetics. 3: e195. PMID 30584593 DOI: 10.1212/Nxg.0000000000000195  0.688
2017 Boissel S, Fallet-Bianco C, Chitayat D, Kremer V, Nassif C, Rypens F, Delrue MA, Dal Soglio D, Oligny LL, Patey N, Flori E, Cloutier M, Dyment D, Campeau P, Karalis A, ... ... Rouleau GA, et al. Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 29261186 DOI: 10.1097/01.Ogx.0000550387.91867.88  0.4
2017 Gauquelin L, Tétreault M, Thiffault I, Farrow E, Miller N, Yoo B, Bareke E, Yoon G, Suchowersky O, Dupré N, Tarnopolsky M, Brais B, Wolf NI, Majewski J, Rouleau GA, et al. POLR3A variants in hereditary spastic paraplegia and ataxia. Brain : a Journal of Neurology. PMID 29228109 DOI: 10.1093/Brain/Awx290  0.725
2017 Mühleisen TW, Reinbold CS, Forstner AJ, Abramova LI, Alda M, Babadjanova G, Bauer M, Brennan P, Chuchalin A, Cruceanu C, Czerski PM, Degenhardt F, Fischer SB, Fullerton JM, Gordon SD, ... ... Rouleau GA, et al. Gene set enrichment analysis and expression pattern exploration implicate an involvement of neurodevelopmental processes in bipolar disorder. Journal of Affective Disorders. 228: 20-25. PMID 29197740 DOI: 10.1016/J.Jad.2017.11.068  0.795
2017 Mühleisen TW, Reinbold CS, Forstner AJ, Abramova LI, Alda M, Babadjanova G, Bauer M, Brennan P, Chuchalin A, Cruceanu C, Czerski PM, Degenhardt F, Fischer SB, Fullerton JM, Gordon SD, ... ... Rouleau GA, et al. Gene set enrichment analysis and expression pattern exploration implicate an involvement of neurodevelopmental processes in bipolar disorder. Journal of Affective Disorders. 228: 20-25. PMID 29197740 DOI: 10.1016/J.Jad.2017.11.068  0.795
2017 Cruceanu C, Schmouth JF, Torres-Platas SG, Lopez JP, Ambalavanan A, Darcq E, Gross F, Breton B, Spiegelman D, Rochefort D, Hince P, Petite JM, Gauthier J, Lafrenière RG, Dion PA, ... ... Rouleau GA, et al. Rare susceptibility variants for bipolar disorder suggest a role for G protein-coupled receptors. Molecular Psychiatry. PMID 29158579 DOI: 10.1038/mp.2017.223  0.808
2017 Amare AT, Schubert KO, Hou L, Clark SR, Papiol S, Heilbronner U, Degenhardt F, Tekola-Ayele F, Hsu YH, Shekhtman T, Adli M, Akula N, Akiyama K, Ardau R, ... ... Rouleau GA, et al. Association of Polygenic Score for Schizophrenia and HLA Antigen and Inflammation Genes With Response to Lithium in Bipolar Affective Disorder: A Genome-Wide Association Study. Jama Psychiatry. PMID 29121268 DOI: 10.1001/Jamapsychiatry.2017.3433  0.802
2017 Hamdan FF, Myers CT, Cossette P, Lemay P, Spiegelman D, Laporte AD, Nassif C, Diallo O, Monlong J, Cadieux-Dion M, Dobrzeniecka S, Meloche C, Retterer K, Cho MT, Rosenfeld JA, ... ... Rouleau GA, et al. High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. American Journal of Human Genetics. 101: 664-685. PMID 29100083 DOI: 10.1016/J.Ajhg.2017.09.008  0.391
2017 Marsh AP, Edwards TJ, Galea C, Cooper HM, Engle EC, Jamuar SS, Méneret A, Moutard ML, Nava C, Rastetter A, Robinson G, Rouleau G, Roze E, Spencer-Smith M, Trouillard O, et al. DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum and developmental split brain syndrome. Human Mutation. PMID 29068161 DOI: 10.1002/Humu.23361  0.365
2017 Schormair B, Zhao C, Bell S, Tilch E, Salminen AV, Pütz B, Dauvilliers Y, Stefani A, Högl B, Poewe W, Kemlink D, Sonka K, Bachmann CG, Paulus W, Trenkwalder C, ... ... Rouleau GA, et al. Identification of novel risk loci for restless legs syndrome in genome-wide association studies in individuals of European ancestry: a meta-analysis. The Lancet. Neurology. 16: 898-907. PMID 29029846 DOI: 10.1016/S1474-4422(17)30327-7  0.368
2017 Méneret A, Franz EA, Trouillard O, Oliver TC, Zagar Y, Robertson SP, Welniarz Q, Gardner RJM, Gallea C, Srour M, Depienne C, Jasoni CL, Dubacq C, Riant F, Lamy JC, ... ... Rouleau GA, et al. Mutations in the netrin-1 gene cause congenital mirror movements. The Journal of Clinical Investigation. PMID 28945198 DOI: 10.1172/Jci95442  0.364
2017 Meerschaut I, Rochefort D, Revençu N, Pètre J, Corsello C, Rouleau GA, Hamdan FF, Michaud JL, Morton J, Radley J, Ragge N, García-Miñaúr S, Lapunzina P, Bralo MP, Mori MÁ, et al. FOXP1-related intellectual disability syndrome: a recognisable entity. Journal of Medical Genetics. PMID 28735298 DOI: 10.1136/Jmedgenet-2017-104579  0.308
2017 Seixas AI, Loureiro JR, Costa C, Ordóñez-Ugalde A, Marcelino H, Oliveira CL, Loureiro JL, Dhingra A, Brandão E, Cruz VT, Timóteo A, Quintáns B, Rouleau GA, Rizzu P, Carracedo Á, et al. A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia. American Journal of Human Genetics. 101: 87-103. PMID 28686858 DOI: 10.1016/J.Ajhg.2017.06.007  0.403
2017 Rivera B, Di Iorio M, Frankum J, Nadaf J, Fahiminiya S, Arcand SL, Burk DL, Grapton D, Tomiak E, Hastings V, Hamel N, Wagener R, Aleynikova O, Giroux S, Hamdan FF, ... ... Rouleau GA, et al. Functionally null RAD51D missense mutation associates strongly with ovarian carcinoma. Cancer Research. PMID 28646019 DOI: 10.1158/0008-5472.Can-17-0190  0.323
2017 Huang AY, Yu D, Davis LK, Sul JH, Tsetsos F, Ramensky V, Zelaya I, Ramos EM, Osiecki L, Chen JA, McGrath LM, Illmann C, Sandor P, Barr CL, Grados M, ... ... Rouleau G, et al. Rare Copy Number Variants in NRXN1 and CNTN6 Increase Risk for Tourette Syndrome. Neuron. 94: 1101-1111.e7. PMID 28641109 DOI: 10.1016/J.Neuron.2017.06.010  0.377
2017 Witt SH, Streit F, Jungkunz M, Frank J, Awasthi S, Reinbold CS, Treutlein J, Degenhardt F, Forstner AJ, Heilmann-Heimbach S, Dietl L, Schwarze CE, Schendel D, Strohmaier J, Abdellaoui A, ... ... Rouleau GA, et al. Genome-wide association study of borderline personality disorder reveals genetic overlap with bipolar disorder, major depression and schizophrenia. Translational Psychiatry. 7: e1155. PMID 28632202 DOI: 10.1038/Tp.2017.115  0.81
2017 Skotte L, Koch A, Yakimov V, Zhou S, Søborg B, Andersson M, Michelsen SW, Navne JE, Mistry JM, Dion PA, Pedersen ML, Børresen ML, Rouleau GA, Geller F, Melbye M, et al. CPT1A Missense Mutation Associated With Fatty Acid Metabolism and Reduced Height in Greenlanders. Circulation. Cardiovascular Genetics. 10. PMID 28611031 DOI: 10.1161/Circgenetics.116.001618  0.631
2017 Tobe BTD, Crain AM, Winquist AM, Calabrese B, Makihara H, Zhao WN, Lalonde J, Nakamura H, Konopaske G, Sidor M, Pernia CD, Yamashita N, Wada M, Inoue Y, Nakamura F, ... ... Rouleau GA, et al. Probing the lithium-response pathway in hiPSCs implicates the phosphoregulatory set-point for a cytoskeletal modulator in bipolar pathogenesis. Proceedings of the National Academy of Sciences of the United States of America. PMID 28500272 DOI: 10.1073/Pnas.1700111114  0.602
2017 Marsh AP, Heron D, Edwards TJ, Quartier A, Galea C, Nava C, Rastetter A, Moutard ML, Anderson V, Bitoun P, Bunt J, Faudet A, Garel C, Gillies G, Gobius I, ... ... Rouleau G, et al. Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance. Nature Genetics. PMID 28250454 DOI: 10.1038/Ng.3794  0.337
2017 Stern S, Santos R, Marchetto MC, Mendes AP, Rouleau GA, Biesmans S, Wang QW, Yao J, Charnay P, Bang AG, Alda M, Gage FH. Neurons derived from patients with bipolar disorder divide into intrinsically different sub-populations of neurons, predicting the patients' responsiveness to lithium. Molecular Psychiatry. PMID 28242870 DOI: 10.1038/Mp.2016.260  0.617
2017 Forstner AJ, Hecker J, Hofmann A, Maaser A, Reinbold CS, Mühleisen TW, Leber M, Strohmaier J, Degenhardt F, Treutlein J, Mattheisen M, Schumacher J, Streit F, Meier S, Herms S, ... ... Rouleau GA, et al. Identification of shared risk loci and pathways for bipolar disorder and schizophrenia. Plos One. 12: e0171595. PMID 28166306 DOI: 10.1371/Journal.Pone.0171595  0.814
2017 Houle G, Schmouth JF, Leblond CS, Ambalavanan A, Spiegelman D, Laurent SB, Bourassa CV, Panisset M, Chouinard S, Dupré N, Vilariño-Güell C, Rajput A, Dion PA, Rouleau GA. Teneurin transmembrane protein 4 is not a cause for essential tremor in a Canadian population. Movement Disorders : Official Journal of the Movement Disorder Society. PMID 28158909 DOI: 10.1002/Mds.26753  0.668
2017 Ross JP, Dupré N, Dauvilliers Y, Strong S, Dionne-Laporte A, Dion PA, Rouleau GA, Gan-Or Z. RIC3 variants are not associated with Parkinson's disease in French-Canadians and French. Neurobiology of Aging. PMID 28153381 DOI: 10.1016/J.Neurobiolaging.2017.01.005  0.703
2017 Chrestian N, Dupré N, Gan-Or Z, Szuto A, Chen S, Venkitachalam A, Brisson JD, Warman-Chardon J, Ahmed S, Ashtiani S, MacDonald H, Mohsin N, Mourabit-Amari K, Provencher P, Boycott KM, ... ... Rouleau GA, et al. Clinical and genetic study of hereditary spastic paraplegia in Canada. Neurology. Genetics. 3: e122. PMID 27957547 DOI: 10.1212/Nxg.0000000000000122  0.302
2017 Alenezi WM, Revil T, Badescu D, Arcand SL, Rouleau G, Ragoussis I, Tonin PN. Abstract A25: Investigating the co-occurrence of potentially pathogenic DNA repair pathways alleles in BRCA1 or BRCA2 mutation carrier women with ovarian cancer. Molecular Cancer Research. 15. DOI: 10.1158/1557-3125.Dnarepair16-A25  0.315
2017 Khoury S, Segal J, Parisien M, Noreau A, Dion P, Benavides R, Giguère J, Denis R, Belfer I, Diatchenko L, Rouleau GA, Lavigne GJ. Post-concussion symptoms and chronic pain after mild traumatic brain injury are modulated by multiple locus effect in theBDNFgene through the expression of antisense: A pilot prospective control study Canadian Journal of Pain. 1: 112-126. DOI: 10.1080/24740527.2017.1362942  0.457
2017 He Q, Hajji I, Jimenez D, Benbetka S, Johnson A, Dionne-Laporte A, Spiegelman D, Joober R, Dubé M, DeLisi L, Rouleau GA, Xiong L. Whole Exome Sequencing of Affected Individuals From Large Consanguineous Pedigrees With Psychotic/Affective Disorders From Pakistan European Neuropsychopharmacology. 27. DOI: 10.1016/J.Euroneuro.2016.09.438  0.446
2017 Gage F, Stern S, Santos R, Carol Marchetto M, Diniz Mendes A, Rouleau G, Biesmans S, Wang Q, Yao J, Charnay P, Bang A, Alda M. 715. Neurons from Bipolar Disorder Patients Are Characterized by Intrinsically Different Sub Populations of Neurons Biological Psychiatry. 81: S290. DOI: 10.1016/J.Biopsych.2017.02.782  0.592
2016 Gan-Or Z, Zhou S, Johnson A, Montplaisir JY, Allen RP, Earley CJ, Desautels A, Dion PA, Xiong L, Rouleau GA. Case-Control and Family-Based Association Study of Specific Variants in Restless Legs Syndrome. Movement Disorders Clinical Practice. 3: 460-464. PMID 30363591 DOI: 10.1002/Mdc3.12306  0.77
2016 Ohta Y, Soucy G, Phaneuf D, Audet JN, Gros-Louis F, Rouleau GA, Blasco H, Corcia P, Andersen PM, Nordin F, Yamashita T, Abe K, Julien JP. Sex-dependent effects of chromogranin B P413L allelic variant as disease modifier in amyotrophic lateral sclerosis. Human Molecular Genetics. 25: 4771-4786. PMID 28175304 DOI: 10.1093/Hmg/Ddw304  0.328
2016 Sproviero W, Shatunov A, Stahl D, Shoai M, van Rheenen W, Jones AR, Al-Sarraj S, Andersen PM, Bonini NM, Conforti FL, Van Damme P, Daoud H, Del Mar Amador M, Fogh I, Forzan M, ... ... Rouleau G, et al. ATXN2 trinucleotide repeat length correlates with risk of ALS. Neurobiology of Aging. PMID 28017481 DOI: 10.1016/J.Neurobiolaging.2016.11.010  0.317
2016 Grad LI, Rouleau GA, Ravits J, Cashman NR. Clinical Spectrum of Amyotrophic Lateral Sclerosis (ALS). Cold Spring Harbor Perspectives in Medicine. PMID 28003278 DOI: 10.1101/Cshperspect.A024117  0.359
2016 Gan-Or Z, Montplaisir JY, Ross JP, Poirier J, Warby SC, Arnulf I, Strong S, Dauvilliers Y, Leblond CS, Hu MT, Högl B, Stefani A, Monaca CC, De Cock VC, Boivin M, ... ... Rouleau GA, et al. The dementia-associated APOE ε4 allele is not associated with rapid eye movement sleep behavior disorder. Neurobiology of Aging. PMID 27814994 DOI: 10.1016/J.Neurobiolaging.2016.10.002  0.776
2016 Müller SH, Girard SL, Hopfner F, Merner ND, Bourassa CV, Lorenz D, Clark LN, Tittmann L, Soto-Ortolaza AI, Klebe S, Hallett M, Schneider SA, Hodgkinson CA, Lieb W, Wszolek ZK, ... ... Rouleau GA, et al. Genome-wide association study in essential tremor identifies three new loci. Brain : a Journal of Neurology. PMID 27797806 DOI: 10.1093/Brain/Aww242  0.365
2016 Zhou S, Ambalavanan A, Rochefort D, Xie P, Bourassa CV, Hince P, Dionne-Laporte A, Spiegelman D, Gan-Or Z, Mirarchi C, Zaharieva V, Dupré N, Kobayashi H, Hitomi T, Harada K, ... ... Rouleau GA, et al. RNF213 Is Associated with Intracranial Aneurysms in the French-Canadian Population. American Journal of Human Genetics. PMID 27745834 DOI: 10.1016/J.Ajhg.2016.09.001  0.684
2016 Diomedi M, Gan-Or Z, Placidi F, Dion PA, Szuto A, Bengala M, Rouleau GA, Gigli GL. A 23 years follow-up study identifies GLUT1 deficiency syndrome initially diagnosed as complicated hereditary spastic paraplegia. European Journal of Medical Genetics. PMID 27725288 DOI: 10.1016/J.Ejmg.2016.10.003  0.399
2016 Girard SL, Bourassa CV, Lemieux Perreault LP, Legault MA, Barhdadi A, Ambalavanan A, Brendgen M, Vitaro F, Noreau A, Dionne G, Tremblay RE, Dion PA, Boivin M, Dubé MP, Rouleau GA. Paternal Age Explains a Major Portion of De Novo Germline Mutation Rate Variability in Healthy Individuals. Plos One. 11: e0164212. PMID 27723766 DOI: 10.1371/Journal.Pone.0164212  0.577
2016 Pal GD, Hall D, Ouyang B, Phelps J, Alcalay R, Pauciulo MW, Nichols WC, Clark L, Mejia-Santana H, Blasucci L, Goetz CG, Comella C, Colcher A, Gan-Or Z, Rouleau GA, et al. Genetic and Clinical Predictors of Deep Brain Stimulation in Young-Onset Parkinson's Disease. Movement Disorders Clinical Practice. 3: 465-471. PMID 27709117 DOI: 10.1002/Mdc3.12309  0.304
2016 Gama MT, Houle G, Noreau A, Dionne-Laporte A, Dion PA, Rouleau GA, Barsottini OG, Pedroso JL. SYNE1 mutations cause autosomal-recessive ataxia with retained reflexes in Brazilian patients. Movement Disorders : Official Journal of the Movement Disorder Society. PMID 27671794 DOI: 10.1002/Mds.26810  0.674
2016 Mallett V, Ross JP, Alcalay RN, Ambalavanan A, Sidransky E, Dion PA, Rouleau GA, Gan-Or Z. GBA p.T369M substitution in Parkinson disease: Polymorphism or association? A meta-analysis. Neurology. Genetics. 2: e104. PMID 27648471 DOI: 10.1212/Nxg.0000000000000104  0.682
2016 Mahmud AA, Nahid NA, Nassif C, Sayeed MS, Ahmed MU, Parveen M, Khalil MI, Islam MM, Nahar Z, Rypens F, Hamdan FF, Rouleau GA, Hasnat A, Michaud JL. Loss of the proprioception and touch sensation channel PIEZO2 in siblings with a progressive form of contractures. Clinical Genetics. PMID 27607563 DOI: 10.1111/Cge.12850  0.354
2016 Manousaki D, Kent JW, Haack K, Zhou S, Xie P, Greenwood CM, Brassard P, Newman DE, Cole S, Umans JG, Rouleau G, Comuzzie AG, Richards JB. Toward Precision Medicine: TBC1D4 Disruption Is Common Among the Inuit and Leads to Underdiagnosis of Type 2 Diabetes. Diabetes Care. PMID 27561922 DOI: 10.2337/Dc16-0769  0.617
2016 Cruceanu C, Kutsarova E, Chen ES, Checknita DR, Nagy C, Lopez JP, Alda M, Rouleau GA, Turecki G. DNA hypomethylation of Synapsin II CpG islands associates with increased gene expression in bipolar disorder and major depression. Bmc Psychiatry. 16: 286. PMID 27515700 DOI: 10.1186/S12888-016-0989-0  0.803
2016 Kenna KP, van Doormaal PT, Dekker AM, Ticozzi N, Kenna BJ, Diekstra FP, van Rheenen W, van Eijk KR, Jones AR, Keagle P, Shatunov A, Sproviero W, Smith BN, van Es MA, Topp SD, ... ... Rouleau GA, et al. NEK1 variants confer susceptibility to amyotrophic lateral sclerosis. Nature Genetics. PMID 27455347 DOI: 10.1038/Ng.3626  0.383
2016 Hou L, Bergen SE, Akula N, Song J, Hultman CM, Landén M, Adli M, Alda M, Ardau R, Arias B, Aubry JM, Backlund L, Badner JA, Barrett TB, Bauer M, ... ... Rouleau GA, et al. Genome-wide association study of 40,000 individuals identifies two novel loci associated with bipolar disorder. Human Molecular Genetics. PMID 27329760 DOI: 10.1093/Hmg/Ddw181  0.813
2016 Ross JP, Dupre N, Dauvilliers Y, Strong S, Ambalavanan A, Spiegelman D, Dionne-Laporte A, Pourcher E, Langlois M, Boivin M, Leblond CS, Dion PA, Rouleau GA, Gan-Or Z. Analysis of DNAJC13 mutations in French-Canadian/French cohort of Parkinson's disease. Neurobiology of Aging. PMID 27236598 DOI: 10.1016/J.Neurobiolaging.2016.04.023  0.685
2016 Gan-Or Z, Bouslam N, Birouk N, Lissouba A, Chambers DB, Vérièpe J, Androschuck A, Laurent SB, Rochefort D, Spiegelman D, Dionne-Laporte A, Szuto A, Liao M, Figlewicz DA, Bouhouche A, ... ... Rouleau GA, et al. Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia. American Journal of Human Genetics. 98: 1038-1046. PMID 27153400 DOI: 10.1016/J.Ajhg.2016.04.002  0.374
2016 Gan-Or Z, Mohsin N, Girard SL, Montplaisir JY, Ambalavanan A, Strong S, Mallett V, Laurent SB, Bourassa CV, Boivin M, Langlois M, Arnulf I, Högl B, Frauscher B, Monaca C, ... ... Rouleau GA, et al. The role of the melanoma gene MC1R in Parkinson disease and REM sleep behavior disorder. Neurobiology of Aging. PMID 27131830 DOI: 10.1016/J.Neurobiolaging.2016.03.029  0.636
2016 Leblond CS, Webber A, Gan-Or Z, Moore F, Dagher A, Dion PA, Rouleau GA. De novo FUS P525L mutation in Juvenile amyotrophic lateral sclerosis with dysphonia and diplopia. Neurology. Genetics. 2: e63. PMID 27123482 DOI: 10.1212/Nxg.0000000000000063  0.341
2016 Therrien M, Dion PA, Rouleau GA. ALS: Recent Developments from Genetics Studies. Current Neurology and Neuroscience Reports. 16: 59. PMID 27113253 DOI: 10.1007/S11910-016-0658-1  0.385
2016 Williams KL, Topp S, Yang S, Smith B, Fifita JA, Warraich ST, Zhang KY, Farrawell N, Vance C, Hu X, Chesi A, Leblond CS, Lee A, Rayner SL, Sundaramoorthy V, ... ... Rouleau GA, et al. CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia. Nature Communications. 7: 11253. PMID 27080313 DOI: 10.1038/Ncomms11253  0.37
2016 Merner ND, Mercado A, Khanna AR, Hodgkinson A, Bruat V, Awadalla P, Gamba G, Rouleau GA, Kahle KT. Gain-of-function missense variant in SLC12A2, encoding the bumetanide-sensitive NKCC1 cotransporter, identified in human schizophrenia. Journal of Psychiatric Research. 77: 22-26. PMID 26955005 DOI: 10.1016/J.Jpsychires.2016.02.016  0.375
2016 Niblock M, Smith BN, Lee YB, Sardone V, Topp S, Troakes C, Al-Sarraj S, Leblond CS, Dion PA, Rouleau GA, Shaw CE, Gallo JM. Retention of hexanucleotide repeat-containing intron in C9orf72 mRNA: implications for the pathogenesis of ALS/FTD. Acta Neuropathologica Communications. 4: 18. PMID 26916632 DOI: 10.1186/S40478-016-0289-4  0.314
2016 Hou L, Heilbronner U, Degenhardt F, Adli M, Akiyama K, Akula N, Ardau R, Arias B, Backlund L, Banzato CE, Benabarre A, Bengesser S, Bhattacharjee AK, Biernacka JM, Birner A, ... ... Rouleau GA, et al. Genetic variants associated with response to lithium treatment in bipolar disorder: a genome-wide association study. Lancet (London, England). PMID 26806518 DOI: 10.1016/S0140-6736(16)00143-4  0.798
2016 Merner N, Forgeot d'Arc B, Bell SC, Maussion G, Peng H, Gauthier J, Crapper L, Hamdan FF, Michaud JL, Mottron L, Rouleau GA, Ernst C. A de novo frameshift mutation in chromodomain helicase DNA-binding domain 8 (CHD8): A case report and literature review. American Journal of Medical Genetics. Part A. PMID 26789910 DOI: 10.1002/Ajmg.A.37566  0.759
2016 Julien C, Lissouba A, Madabattula S, Fardghassemi Y, Rosenfelt C, Androschuk A, Strautman J, Wong C, Bysice A, O'Sullivan J, Rouleau GA, Drapeau P, Parker JA, Bolduc FV. Conserved pharmacological rescue of hereditary spastic paraplegia-related phenotypes across model organisms. Human Molecular Genetics. PMID 26744324 DOI: 10.1093/Hmg/Ddv632  0.329
2015 Benedet AL, Labbe A, Lemay P, Zimmer ER, Pascoal TA, Leuzy A, Mathotaarachchi S, Mohades S, Shin M, Dionne-Laporte A, Beaudry T, Picard C, Gauthier S, Poirier J, Rouleau G, et al. Epistasis analysis links immune cascades and cerebral amyloidosis. Journal of Neuroinflammation. 12: 227. PMID 26626881 DOI: 10.1186/S12974-015-0436-Z  0.339
2015 Choquet K, Tétreault M, Yang S, La Piana R, Dicaire MJ, Vanstone MR, Mathieu J, Bouchard JP, Rioux MF, Rouleau GA, Boycott KM, Majewski J, Brais B. SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases. European Journal of Human Genetics : Ejhg. PMID 26626314 DOI: 10.1038/Ejhg.2015.240  0.755
2015 Richer F, Daghfal R, Rouleau GA, Lespérance P, Chouinard S. Clinical features associated with an early onset in chronic tic disorders. Psychiatry Research. PMID 26596364 DOI: 10.1016/J.Psychres.2015.11.018  0.324
2015 Forstner AJ, Hofmann A, Maaser A, Sumer S, Khudayberdiev S, Mühleisen TW, Leber M, Schulze TG, Strohmaier J, Degenhardt F, Treutlein J, Mattheisen M, Schumacher J, Breuer R, Meier S, ... ... Rouleau GA, et al. Genome-wide analysis implicates microRNAs and their target genes in the development of bipolar disorder. Translational Psychiatry. 5: e678. PMID 26556287 DOI: 10.1038/Tp.2015.159  0.786
2015 Merner ND, Chandler MR, Bourassa C, Liang B, Khanna AR, Dion P, Rouleau GA, Kahle KT. Regulatory domain or CpG site variation in SLC12A5, encoding the chloride transporter KCC2, in human autism and schizophrenia. Frontiers in Cellular Neuroscience. 9: 386. PMID 26528127 DOI: 10.3389/Fncel.2015.00386  0.365
2015 Ambalavanan A, Girard SL, Ahn K, Zhou S, Dionne-Laporte A, Spiegelman D, Bourassa CV, Gauthier J, Hamdan FF, Xiong L, Dion PA, Joober R, Rapoport J, Rouleau GA. De novo variants in sporadic cases of childhood onset schizophrenia. European Journal of Human Genetics : Ejhg. PMID 26508570 DOI: 10.1038/Ejhg.2015.218  0.693
2015 Leblond CS, Gan-Or Z, Spiegelman D, Laurent SB, Szuto A, Hodgkinson A, Dionne-Laporte A, Provencher P, de Carvalho M, Orrù S, Brunet D, Bouchard JP, Awadalla P, Dupré N, Dion PA, ... Rouleau GA, et al. Replication study of MATR3 in familial and sporadic amyotrophic lateral sclerosis. Neurobiology of Aging. PMID 26493020 DOI: 10.1016/J.Neurobiolaging.2015.09.013  0.371
2015 Srour M, Hamdan FF, McKnight D, Davis E, Mandel H, Schwartzentruber J, Martin B, Patry L, Nassif C, Dionne-Laporte A, Ospina LH, Lemyre E, Massicotte C, Laframboise R, Maranda B, ... ... Rouleau GA, et al. Joubert Syndrome in French Canadians and Identification of Mutations in CEP104. American Journal of Human Genetics. PMID 26477546 DOI: 10.1016/J.Ajhg.2015.09.009  0.613
2015 Gan-Or Z, Mirelman A, Postuma RB, Arnulf I, Bar-Shira A, Dauvilliers Y, Desautels A, Gagnon JF, Leblond CS, Frauscher B, Alcalay RN, Saunders-Pullman R, Bressman SB, Marder K, Monaca C, ... ... Rouleau GA, et al. GBA mutations are associated with Rapid Eye Movement Sleep Behavior Disorder. Annals of Clinical and Translational Neurology. 2: 941-5. PMID 26401515 DOI: 10.1002/Acn3.228  0.633
2015 Gan-Or Z, Zhou S, Ambalavanan A, Leblond CS, Xie P, Johnson A, Spiegelman D, Allen RP, Earley CJ, Desautels A, Montplaisir JY, Dion PA, Xiong L, Rouleau GA. Analysis of functional GLO1 variants in the BTBD9 locus and restless legs syndrome. Sleep Medicine. 16: 1151-5. PMID 26298793 DOI: 10.1016/J.Sleep.2015.06.002  0.779
2015 Sawyer SL, Hartley T, Dyment DA, Beaulieu CL, Schwartzentruber J, Smith A, Bedford HM, Bernard G, Bernier FP, Brais B, Bulman DE, Chardon JW, Chitayat D, Deladoëy J, Fernandez BA, ... ... Rouleau GA, et al. Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care. Clinical Genetics. PMID 26283276 DOI: 10.1111/Cge.12654  0.628
2015 Daoud H, Papadima EM, Bencheikh BO, Katsila T, Dionne-Laporte A, Spiegelman D, Dion PA, Patrinos GP, Orrù S, Rouleau GA. Identification of a novel homozygous SPG7 mutation by whole exome sequencing in a Greek family with a complicated form of hereditary spastic paraplegia. European Journal of Medical Genetics. PMID 26260707 DOI: 10.1016/J.Ejmg.2015.08.001  0.39
2015 Noreau A, La Piana R, Marcoux C, Dion PA, Brais B, Bernard G, Rouleau GA. Novel SIL1 mutations cause cerebellar ataxia and atrophy in a French-Canadian family. Neurogenetics. PMID 26260654 DOI: 10.1007/S10048-015-0455-Z  0.633
2015 Cruceanu C, Tan PP, Rogic S, Lopez JP, Torres-Platas SG, Gigek CO, Alda M, Rouleau GA, Pavlidis P, Turecki G. Transcriptome Sequencing of the Anterior Cingulate in Bipolar Disorder: Dysregulation of G Protein-Coupled Receptors. The American Journal of Psychiatry. appiajp201514101279. PMID 26238605 DOI: 10.1176/Appi.Ajp.2015.14101279  0.806
2015 Jouan L, Ouled Amar Bencheikh B, Daoud H, Dionne-Laporte A, Dobrzeniecka S, Spiegelman D, Rochefort D, Hince P, Szuto A, Lassonde M, Barbelanne M, Tsang WY, Dion PA, Théoret H, Rouleau GA. Exome sequencing identifies recessive CDK5RAP2 variants in patients with isolated agenesis of corpus callosum. European Journal of Human Genetics : Ejhg. PMID 26197979 DOI: 10.1038/Ejhg.2015.156  0.397
2015 Madabattula ST, Strautman JC, Bysice AM, O'Sullivan JA, Androschuk A, Rosenfelt C, Doucet K, Rouleau G, Bolduc F. Quantitative Analysis of Climbing Defects in a Drosophila Model of Neurodegenerative Disorders. Journal of Visualized Experiments : Jove. e52741. PMID 26132637 DOI: 10.3791/52741  0.345
2015 Alcalay RN, Levy OA, Waters CC, Fahn S, Ford B, Kuo SH, Mazzoni P, Pauciulo MW, Nichols WC, Gan-Or Z, Rouleau GA, Chung WK, Wolf P, Oliva P, Keutzer J, et al. Glucocerebrosidase activity in Parkinson's disease with and without GBA mutations. Brain : a Journal of Neurology. PMID 26117366 DOI: 10.1093/Brain/Awv179  0.306
2015 Girard SL, Dion PA, Bourassa CV, Geoffroy S, Lachance-Touchette P, Barhdadi A, Langlois M, Joober R, Krebs MO, Dubé MP, Rouleau GA. Mutation burden of rare variants in schizophrenia candidate genes. Plos One. 10: e0128988. PMID 26039597 DOI: 10.1371/Journal.Pone.0128988  0.634
2015 Coutelier M, Goizet C, Durr A, Habarou F, Morais S, Dionne-Laporte A, Tao F, Konop J, Stoll M, Charles P, Jacoupy M, Matusiak R, Alonso I, Tallaksen C, Mairey M, ... ... Rouleau G, et al. Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia. Brain : a Journal of Neurology. PMID 26026163 DOI: 10.1093/Brain/Awv143  0.407
2015 Zhou S, Xiong L, Xie P, Ambalavanan A, Bourassa CV, Dionne-Laporte A, Spiegelman D, Turcotte Gauthier M, Henrion E, Diallo O, Dion PA, Rouleau GA. Increased missense mutation burden of Fatty Acid metabolism related genes in nunavik inuit population. Plos One. 10: e0128255. PMID 26010953 DOI: 10.1371/Journal.Pone.0128255  0.68
2015 Srour M, Hamdan FF, Gan-Or Z, Labuda D, Nassif C, Oskoui M, Gana-Weisz M, Orr-Urtreger A, Rouleau GA, Michaud JL. A homozygous mutation in SLC1A4 in siblings with severe intellectual disability and microcephaly. Clinical Genetics. 88: e1-4. PMID 25930971 DOI: 10.1111/Cge.12605  0.323
2015 Gan-Or Z, Girard SL, Noreau A, Leblond CS, Gagnon JF, Arnulf I, Mirarchi C, Dauvilliers Y, Desautels A, Mitterling T, Cochen De Cock V, Frauscher B, Monaca C, Hogl B, Dion PA, ... ... Rouleau GA, et al. Parkinson's Disease Genetic Loci in Rapid Eye Movement Sleep Behavior Disorder. Journal of Molecular Neuroscience : Mn. 56: 617-22. PMID 25929833 DOI: 10.1007/S12031-015-0569-7  0.618
2015 Gonzalez-Perez P, Woehlbier U, Chian RJ, Sapp P, Rouleau GA, Leblond CS, Daoud H, Dion PA, Landers JE, Hetz C, Brown RH. Identification of rare protein disulfide isomerase gene variants in amyotrophic lateral sclerosis patients. Gene. 566: 158-65. PMID 25913742 DOI: 10.1016/J.Gene.2015.04.035  0.385
2015 Lattante S, Ciura S, Rouleau GA, Kabashi E. Defining the genetic connection linking amyotrophic lateral sclerosis (ALS) with frontotemporal dementia (FTD). Trends in Genetics : Tig. 31: 263-73. PMID 25869998 DOI: 10.1016/J.Tig.2015.03.005  0.4
2015 Aoyagi K, Rossignol E, Hamdan FF, Mulcahy B, Xie L, Nagamatsu S, Rouleau GA, Zhen M, Michaud JL. A Gain-of-Function Mutation in NALCN in a Child with Intellectual Disability, Ataxia, and Arthrogryposis. Human Mutation. 36: 753-7. PMID 25864427 DOI: 10.1002/Humu.22797  0.344
2015 Legault MA, Girard S, Lemieux Perreault LP, Rouleau GA, Dubé MP. Comparison of sequencing based CNV discovery methods using monozygotic twin quartets. Plos One. 10: e0122287. PMID 25812131 DOI: 10.1371/Journal.Pone.0122287  0.554
2015 Jobling RK, Assoum M, Gakh O, Blaser S, Raiman JA, Mignot C, Roze E, Dürr A, Brice A, Lévy N, Prasad C, Paton T, Paterson AD, Roslin NM, Marshall CR, ... ... Rouleau GA, et al. PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia. Brain : a Journal of Neurology. 138: 1505-17. PMID 25808372 DOI: 10.1093/Brain/Awv057  0.341
2015 Cirulli ET, Lasseigne BN, Petrovski S, Sapp PC, Dion PA, Leblond CS, Couthouis J, Lu YF, Wang Q, Krueger BJ, Ren Z, Keebler J, Han Y, Levy SE, Boone BE, ... ... Rouleau GA, et al. Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways. Science (New York, N.Y.). 347: 1436-41. PMID 25700176 DOI: 10.1126/Science.Aaa3650  0.349
2015 Capo-Chichi JM, Boissel S, Brustein E, Pickles S, Fallet-Bianco C, Nassif C, Patry L, Dobrzeniecka S, Liao M, Labuda D, Samuels ME, Hamdan FF, Vande Velde C, Rouleau GA, Drapeau P, et al. Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria. Journal of Medical Genetics. 52: 303-11. PMID 25650066 DOI: 10.1136/Jmedgenet-2014-102952  0.322
2015 Hunsberger JG, Chibane FL, Elkahloun AG, Henderson R, Singh R, Lawson J, Cruceanu C, Nagarajan V, Turecki G, Squassina A, Medeiros CD, Del Zompo M, Rouleau GA, Alda M, Chuang DM. Novel integrative genomic tool for interrogating lithium response in bipolar disorder. Translational Psychiatry. 5: e504. PMID 25646593 DOI: 10.1038/Tp.2014.139  0.783
2015 Patten SA, Margaritte-Jeannin P, Bernard JC, Alix E, Labalme A, Besson A, Girard SL, Fendri K, Fraisse N, Biot B, Poizat C, Campan-Fournier A, Abelin-Genevois K, Cunin V, Zaouter C, ... ... Rouleau GA, et al. Functional variants of POC5 identified in patients with idiopathic scoliosis. The Journal of Clinical Investigation. 125: 1124-8. PMID 25642776 DOI: 10.1172/Jci77262  0.431
2015 Paré B, Touzel-Deschênes L, Lamontagne R, Lamarre MS, Scott FD, Khuong HT, Dion PA, Bouchard JP, Gould P, Rouleau GA, Dupré N, Berthod F, Gros-Louis F. Early detection of structural abnormalities and cytoplasmic accumulation of TDP-43 in tissue-engineered skins derived from ALS patients. Acta Neuropathologica Communications. 3: 5. PMID 25637145 DOI: 10.1186/S40478-014-0181-Z  0.308
2015 Mackey J, Brown RD, Sauerbeck L, Hornung R, Moomaw CJ, Koller DL, Foroud T, Deka R, Woo D, Kleindorfer D, Flaherty ML, Meissner I, Anderson C, Rouleau G, Connolly ES, et al. Affected twins in the familial intracranial aneurysm study. Cerebrovascular Diseases (Basel, Switzerland). 39: 82-6. PMID 25571891 DOI: 10.1159/000369961  0.302
2015 Cruceanu C, Alda M, Dion PA, Turecki G, Rouleau GA. No evidence for GADL1 variation as a bipolar disorder susceptibility factor in a Caucasian lithium-responsive cohort. The American Journal of Psychiatry. 172: 94-5. PMID 25553497 DOI: 10.1176/Appi.Ajp.2014.14070855  0.788
2015 Kaneb HM, Folkmann AW, Belzil VV, Jao LE, Leblond CS, Girard SL, Daoud H, Noreau A, Rochefort D, Hince P, Szuto A, Levert A, Vidal S, André-Guimont C, Camu W, ... ... Rouleau GA, et al. Deleterious mutations in the essential mRNA metabolism factor, hGle1, in amyotrophic lateral sclerosis. Human Molecular Genetics. 24: 1363-73. PMID 25343993 DOI: 10.1093/Hmg/Ddu545  0.705
2015 Lee JR, Srour M, Kim D, Hamdan FF, Lim SH, Brunel-Guitton C, Décarie JC, Rossignol E, Mitchell GA, Schreiber A, Moran R, Van Haren K, Richardson R, Nicolai J, Oberndorff KM, ... ... Rouleau GA, et al. De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophy. Human Mutation. 36: 69-78. PMID 25265257 DOI: 10.1002/Humu.22709  0.319
2015 Yu D, Mathews CA, Scharf JM, Neale BM, Davis LK, Gamazon ER, Derks EM, Evans P, Edlund CK, Crane J, Fagerness JA, Osiecki L, Gallagher P, Gerber G, Haddad S, ... ... Rouleau GA, et al. Cross-disorder genome-wide analyses suggest a complex genetic relationship between Tourette's syndrome and OCD. The American Journal of Psychiatry. 172: 82-93. PMID 25158072 DOI: 10.1176/Appi.Ajp.2014.13101306  0.4
2015 Fu L, Zhou S, Rouleau G, Silviu-Dan F. Clinical and Genetic Investigation in a Family Segregating Different Types of Angioedema, Including a Case of Hereditary Angioedema Type-III Journal of Allergy and Clinical Immunology. 135: AB197. DOI: 10.1016/J.Jaci.2014.12.1579  0.649
2014 Fasano A, Bologna M, Iezzi E, Pavone L, Srour M, Di Biasio F, Grillea G, Rouleau GA, Levert A, Sebastiano F, Colonnese C, Berardelli A. Congenital Mirror Movements in a New Italian Family. Movement Disorders Clinical Practice. 1: 180-187. PMID 30713853 DOI: 10.1002/Mdc3.12066  0.324
2014 Kebir O, Chaumette B, Fatjó-Vilas M, Ambalavanan A, Ramoz N, Xiong L, Mouaffak F, Millet B, Jaafari N, DeLisi LE, Levinson D, Joober R, Fañanás L, Rouleau G, Dubertret C, et al. Family-based association study of common variants, rare mutation study and epistatic interaction detection in HDAC genes in schizophrenia. Schizophrenia Research. 160: 97-103. PMID 25445625 DOI: 10.1016/J.Schres.2014.09.029  0.301
2014 Gauthier J, Ouled Amar Bencheikh B, Hamdan FF, Harrison SM, Baker LA, Couture F, Thiffault I, Ouazzani R, Samuels ME, Mitchell GA, Rouleau GA, Michaud JL, Soucy JF. A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome. European Journal of Human Genetics : Ejhg. PMID 25407000 DOI: 10.1038/Ejhg.2014.256  0.304
2014 Daoud H, Postuma RB, Bourassa CV, Rochefort D, Gauthier MT, Montplaisir J, Gagnon JF, Arnulf I, Dauvilliers Y, Charley CM, Inoue Y, Sasai T, Högl B, Desautels A, Frauscher B, ... ... Rouleau GA, et al. C9orf72 repeat expansions in rapid eye movement sleep behaviour disorder. The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques. 41: 759-62. PMID 25377888 DOI: 10.1017/Cjn.2014.39  0.63
2014 Smith BN, Ticozzi N, Fallini C, Gkazi AS, Topp S, Kenna KP, Scotter EL, Kost J, Keagle P, Miller JW, Calini D, Vance C, Danielson EW, Troakes C, Tiloca C, ... ... Rouleau GA, et al. Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS. Neuron. 84: 324-31. PMID 25374358 DOI: 10.1016/J.Neuron.2014.09.027  0.414
2014 Hamdan FF, Srour M, Capo-Chichi JM, Daoud H, Nassif C, Patry L, Massicotte C, Ambalavanan A, Spiegelman D, Diallo O, Henrion E, Dionne-Laporte A, Fougerat A, Pshezhetsky AV, Venkateswaran S, ... Rouleau GA, et al. De novo mutations in moderate or severe intellectual disability. Plos Genetics. 10: e1004772. PMID 25356899 DOI: 10.1371/Journal.Pgen.1004772  0.431
2014 Foroud T, Lai D, Koller D, Van't Hof F, Kurki MI, Anderson CS, Brown RD, Connolly ES, Eriksson JG, Flaherty M, Fornage M, von Und Zu Fraunberg M, Gaál EI, Laakso A, Hernesniemi J, ... ... Rouleau G, et al. Genome-wide association study of intracranial aneurysm identifies a new association on chromosome 7. Stroke; a Journal of Cerebral Circulation. 45: 3194-9. PMID 25256182 DOI: 10.1161/Strokeaha.114.006096  0.357
2014 Leblond CS, Nava C, Polge A, Gauthier J, Huguet G, Lumbroso S, Giuliano F, Stordeur C, Depienne C, Mouzat K, Pinto D, Howe J, Lemière N, Durand CM, Guibert J, ... ... Rouleau GA, et al. Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments. Plos Genetics. 10: e1004580. PMID 25188300 DOI: 10.1371/Journal.Pgen.1004580  0.389
2014 Mottron L, Belleville S, Rouleau GA, Collignon O. Linking neocortical, cognitive, and genetic variability in autism with alterations of brain plasticity: the Trigger-Threshold-Target model. Neuroscience and Biobehavioral Reviews. 47: 735-52. PMID 25155242 DOI: 10.1016/J.Neubiorev.2014.07.012  0.331
2014 Ahmed I, Mittal K, Sheikh TI, Vasli N, Rafiq MA, Mikhailov A, Ohadi M, Mahmood H, Rouleau GA, Bhatti A, Ayub M, Srour M, John P, Vincent JB. Identification of a homozygous splice site mutation in the dynein axonemal light chain 4 gene on 22q13.1 in a large consanguineous family from Pakistan with congenital mirror movement disorder. Human Genetics. 133: 1419-29. PMID 25098561 DOI: 10.1007/S00439-014-1475-8  0.431
2014 Robinson MÈ, Rossignol E, Brais B, Rouleau G, Arbour JF, Bernard G. Vanishing white matter disease in French-Canadian patients from Quebec. Pediatric Neurology. 51: 225-32. PMID 25079571 DOI: 10.1016/J.Pediatrneurol.2014.05.006  0.579
2014 McGrath LM, Yu D, Marshall C, Davis LK, Thiruvahindrapuram B, Li B, Cappi C, Gerber G, Wolf A, Schroeder FA, Osiecki L, O'Dushlaine C, Kirby A, Illmann C, Haddad S, ... ... Rouleau GA, et al. Copy number variation in obsessive-compulsive disorder and tourette syndrome: a cross-disorder study. Journal of the American Academy of Child and Adolescent Psychiatry. 53: 910-9. PMID 25062598 DOI: 10.1016/J.Jaac.2014.04.022  0.383
2014 Paschou P, Yu D, Gerber G, Evans P, Tsetsos F, Davis LK, Karagiannidis I, Chaponis J, Gamazon E, Mueller-Vahl K, Stuhrmann M, Schloegelhofer M, Stamenkovic M, Hebebrand J, Noethen M, ... ... Rouleau GA, et al. Genetic association signal near NTN4 in Tourette syndrome. Annals of Neurology. 76: 310-5. PMID 25042818 DOI: 10.1002/Ana.24215  0.379
2014 Martins S, Pearson CE, Coutinho P, Provost S, Amorim A, Dubé MP, Sequeiros J, Rouleau GA. Modifiers of (CAG)(n) instability in Machado-Joseph disease (MJD/SCA3) transmissions: an association study with DNA replication, repair and recombination genes. Human Genetics. 133: 1311-8. PMID 25026993 DOI: 10.1007/S00439-014-1467-8  0.387
2014 Kahle KT, Merner ND, Friedel P, Silayeva L, Liang B, Khanna A, Shang Y, Lachance-Touchette P, Bourassa C, Levert A, Dion PA, Walcott B, Spiegelman D, Dionne-Laporte A, Hodgkinson A, ... ... Rouleau GA, et al. Genetically encoded impairment of neuronal KCC2 cotransporter function in human idiopathic generalized epilepsy. Embo Reports. 15: 766-74. PMID 24928908 DOI: 10.15252/Embr.201438840  0.329
2014 Schmouth JF, Dion PA, Rouleau GA. Genetics of essential tremor: from phenotype to genes, insights from both human and mouse studies. Progress in Neurobiology. 119: 1-19. PMID 24820404 DOI: 10.1016/J.Pneurobio.2014.05.001  0.383
2014 Perrault I, Hamdan FF, Rio M, Capo-Chichi JM, Boddaert N, Décarie JC, Maranda B, Nabbout R, Sylvain M, Lortie A, Roux PP, Rossignol E, Gérard X, Barcia G, Berquin P, ... ... Rouleau GA, et al. Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness. American Journal of Human Genetics. 94: 891-7. PMID 24814191 DOI: 10.1016/J.Ajhg.2014.04.012  0.368
2014 Michaud JL, Lachance M, Hamdan FF, Carmant L, Lortie A, Diadori P, Major P, Meijer IA, Lemyre E, Cossette P, Mefford HC, Rouleau GA, Rossignol E. The genetic landscape of infantile spasms. Human Molecular Genetics. 23: 4846-58. PMID 24781210 DOI: 10.1093/Hmg/Ddu199  0.402
2014 Leblond CS, Kaneb HM, Dion PA, Rouleau GA. Dissection of genetic factors associated with amyotrophic lateral sclerosis. Experimental Neurology. 262: 91-101. PMID 24780888 DOI: 10.1016/J.Expneurol.2014.04.013  0.434
2014 Lemay P, Knowler SP, Bouasker S, Nédélec Y, Platt S, Freeman C, Child G, Barreiro LB, Rouleau GA, Rusbridge C, Kibar Z. Quantitative trait loci (QTL) study identifies novel genomic regions associated to Chiari-like malformation in Griffon Bruxellois dogs. Plos One. 9: e89816. PMID 24740420 DOI: 10.1371/Journal.Pone.0089816  0.388
2014 Noreau A, Dion PA, Rouleau GA. Molecular aspects of hereditary spastic paraplegia. Experimental Cell Research. 325: 18-26. PMID 24631291 DOI: 10.1016/J.Yexcr.2014.02.021  0.38
2014 Mühleisen TW, Leber M, Schulze TG, Strohmaier J, Degenhardt F, Treutlein J, Mattheisen M, Forstner AJ, Schumacher J, Breuer R, Meier S, Herms S, Hoffmann P, Lacour A, Witt SH, ... ... Rouleau GA, et al. Genome-wide association study reveals two new risk loci for bipolar disorder. Nature Communications. 5: 3339. PMID 24618891 DOI: 10.1038/Ncomms4339  0.713
2014 Cadieux-Dion M, Turcotte-Gauthier M, Noreau A, Martin C, Meloche C, Gravel M, Drouin CA, Rouleau GA, Nguyen DK, Cossette P. Expanding the clinical phenotype associated with ELOVL4 mutation: study of a large French-Canadian family with autosomal dominant spinocerebellar ataxia and erythrokeratodermia. Jama Neurology. 71: 470-5. PMID 24566826 DOI: 10.1001/Jamaneurol.2013.6337  0.406
2014 Esteves T, Durr A, Mundwiller E, Loureiro JL, Boutry M, Gonzalez MA, Gauthier J, El-Hachimi KH, Depienne C, Muriel MP, Acosta Lebrigio RF, Gaussen M, Noreau A, Speziani F, Dionne-Laporte A, ... ... Rouleau GA, et al. Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia. American Journal of Human Genetics. 94: 268-77. PMID 24388663 DOI: 10.1016/J.Ajhg.2013.12.005  0.377
2014 Huzayyin AA, Andreazza AC, Turecki G, Cruceanu C, Rouleau GA, Alda M, Young LT. Decreased global methylation in patients with bipolar disorder who respond to lithium. The International Journal of Neuropsychopharmacology / Official Scientific Journal of the Collegium Internationale Neuropsychopharmacologicum (Cinp). 17: 561-9. PMID 24345589 DOI: 10.1017/S1461145713001569  0.77
2014 Sawyer SL, Schwartzentruber J, Beaulieu CL, Dyment D, Smith A, Warman Chardon J, Yoon G, Rouleau GA, Suchowersky O, Siu V, Murphy L, Hegele RA, Marshall CR, Bulman DE, et al. Exome sequencing as a diagnostic tool for pediatric-onset ataxia. Human Mutation. 35: 45-9. PMID 24108619 DOI: 10.1002/Humu.22451  0.402
2014 Corradi A, Fadda M, Piton A, Patry L, Marte A, Rossi P, Cadieux-Dion M, Gauthier J, Lapointe L, Mottron L, Valtorta F, Rouleau GA, Fassio A, Benfenati F, Cossette P. SYN2 is an autism predisposing gene: loss-of-function mutations alter synaptic vesicle cycling and axon outgrowth. Human Molecular Genetics. 23: 90-103. PMID 23956174 DOI: 10.1093/Hmg/Ddt401  0.359
2014 Benedet A, Lemay P, Mathotaarachchi SS, Mohades S, Zimmer ER, Dionne-Laporte A, Picard C, Shin M, Wang S, Parent M, Schilling LP, Carbonnell F, Beaudry T, Fonov V, Gauthier S, ... Rouleau G, et al. Epistasis Analyses Indicate Association Between Cerebral Amyloid Deposition And Genes Involved In Immuno-Response Alzheimers & Dementia. 10: 321. DOI: 10.1016/J.Jalz.2014.05.183  0.306
2014 Giorgio E, Rolyan H, Kropp L, Chakka AB, Yatsenko S, Gregorio ED, Lacerenza D, Vaula G, Talarico F, Mandich P, Toro C, Pierre EE, Labauge P, Capellari S, Cortelli P, ... ... Rouleau G, et al. Erratum to Analysis of LMNB1 Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele-Specific Expression. [34, 8, 1160-1171, 10.1002/humu.22348] Human Mutation. 35. DOI: 10.1002/Humu.22466  0.325
2013 Therrien M, Rouleau GA, Dion PA, Parker JA. Deletion of C9ORF72 results in motor neuron degeneration and stress sensitivity in C. elegans. Plos One. 8: e83450. PMID 24349511 DOI: 10.1371/Journal.Pone.0083450  0.332
2013 Thibeault M, Lemay M, Chouinard S, Lespérance P, Rouleau GA, Richer F. Response Inhibition in Tic Disorders: Waiting to Respond Is Harder When ADHD Is Present. Journal of Attention Disorders. PMID 24305059 DOI: 10.1177/1087054713513638  0.325
2013 Alda M, Shao L, Wang JF, Lopez de Lara C, Jaitovich-Groisman I, Lebel V, Sun X, Duffy A, Grof P, Rouleau GA, Turecki G, Young LT. Alterations in phosphorylated cAMP response element-binding protein (pCREB) signaling: an endophenotype of lithium-responsive bipolar disorder? Bipolar Disorders. 15: 824-31. PMID 24238631 DOI: 10.1111/Bdi.12131  0.682
2013 Cruceanu C, Ambalavanan A, Spiegelman D, Gauthier J, Lafrenière RG, Dion PA, Alda M, Turecki G, Rouleau GA. Family-based exome-sequencing approach identifies rare susceptibility variants for lithium-responsive bipolar disorder. Genome / National Research Council Canada = Gã©Nome / Conseil National De Recherches Canada. 56: 634-40. PMID 24237345 DOI: 10.1139/gen-2013-0081  0.809
2013 Davis LK, Yu D, Keenan CL, Gamazon ER, Konkashbaev AI, Derks EM, Neale BM, Yang J, Lee SH, Evans P, Barr CL, Bellodi L, Benarroch F, Berrio GB, Bienvenu OJ, ... ... Rouleau GA, et al. Partitioning the heritability of Tourette syndrome and obsessive compulsive disorder reveals differences in genetic architecture. Plos Genetics. 9: e1003864. PMID 24204291 DOI: 10.1371/Journal.Pgen.1003864  0.426
2013 Manchia M, Cullis J, Turecki G, Rouleau GA, Uher R, Alda M. The impact of phenotypic and genetic heterogeneity on results of genome wide association studies of complex diseases. Plos One. 8: e76295. PMID 24146854 DOI: 10.1371/Journal.Pone.0076295  0.698
2013 Ruzzo EK, Capo-Chichi JM, Ben-Zeev B, Chitayat D, Mao H, Pappas AL, Hitomi Y, Lu YF, Yao X, Hamdan FF, Pelak K, Reznik-Wolf H, Bar-Joseph I, Oz-Levi D, Lev D, ... ... Rouleau GA, et al. Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathy. Neuron. 80: 429-41. PMID 24139043 DOI: 10.1016/J.Neuron.2013.08.013  0.333
2013 Takahashi Y, Fukuda Y, Yoshimura J, Toyoda A, Kurppa K, Moritoyo H, Belzil VV, Dion PA, Higasa K, Doi K, Ishiura H, Mitsui J, Date H, Ahsan B, Matsukawa T, ... ... Rouleau GA, et al. ERBB4 mutations that disrupt the neuregulin-ErbB4 pathway cause amyotrophic lateral sclerosis type 19. American Journal of Human Genetics. 93: 900-5. PMID 24119685 DOI: 10.1016/J.Ajhg.2013.09.008  0.723
2013 Abu-Baker A, Laganiere J, Gaudet R, Rochefort D, Brais B, Neri C, Dion PA, Rouleau GA. Lithium chloride attenuates cell death in oculopharyngeal muscular dystrophy by perturbing Wnt/β-catenin pathway. Cell Death & Disease. 4: e821. PMID 24091664 DOI: 10.1038/Cddis.2013.342  0.552
2013 Casals F, Hodgkinson A, Hussin J, Idaghdour Y, Bruat V, de Maillard T, Grenier JC, Grenier JC, Gbeha E, Hamdan FF, Girard S, Spinella JF, Larivière M, Saillour V, Healy J, ... ... Rouleau GA, et al. Whole-exome sequencing reveals a rapid change in the frequency of rare functional variants in a founding population of humans. Plos Genetics. 9: e1003815. PMID 24086152 DOI: 10.1371/Journal.Pgen.1003815  0.353
2013 Srour M, Chitayat D, Caron V, Chassaing N, Bitoun P, Patry L, Cordier MP, Capo-Chichi JM, Francannet C, Calvas P, Ragge N, Dobrzeniecka S, Hamdan FF, Rouleau GA, Tremblay A, et al. Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia. American Journal of Human Genetics. 93: 765-72. PMID 24075189 DOI: 10.1016/J.Ajhg.2013.08.014  0.314
2013 Noreau A, Bourassa CV, Szuto A, Levert A, Dobrzeniecka S, Gauthier J, Forlani S, Durr A, Anheim M, Stevanin G, Brice A, Bouchard JP, Dion PA, Dupré N, Rouleau GA. SYNE1 mutations in autosomal recessive cerebellar ataxia. Jama Neurology. 70: 1296-31. PMID 23959263 DOI: 10.1001/Jamaneurol.2013.3268  0.369
2013 Lee SH, Ripke S, Neale BM, Faraone SV, Purcell SM, Perlis RH, Mowry BJ, Thapar A, Goddard ME, Witte JS, Absher D, Agartz I, Akil H, Amin F, ... ... Rouleau G, et al. Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nature Genetics. 45: 984-94. PMID 23933821 DOI: 10.1038/Ng.2711  0.364
2013 Manchia M, Adli M, Akula N, Ardau R, Aubry JM, Backlund L, Banzato CE, Baune BT, Bellivier F, Bengesser S, Biernacka JM, Brichant-Petitjean C, Bui E, Calkin CV, Cheng AT, ... ... Rouleau GA, et al. Assessment of Response to Lithium Maintenance Treatment in Bipolar Disorder: A Consortium on Lithium Genetics (ConLiGen) Report. Plos One. 8: e65636. PMID 23840348 DOI: 10.1371/Journal.Pone.0065636  0.673
2013 Squassina A, Manchia M, Chillotti C, Deiana V, Congiu D, Paribello F, Roncada P, Soggiu A, Piras C, Urbani A, Robertson GS, Keddy P, Turecki G, Rouleau GA, Alda M, et al. Differential effect of lithium on spermidine/spermine N1-acetyltransferase expression in suicidal behaviour. The International Journal of Neuropsychopharmacology / Official Scientific Journal of the Collegium Internationale Neuropsychopharmacologicum (Cinp). 16: 2209-18. PMID 23768751 DOI: 10.1017/S1461145713000655  0.679
2013 Boukhris A, Schule R, Loureiro JL, Lourenço CM, Mundwiller E, Gonzalez MA, Charles P, Gauthier J, Rekik I, Acosta Lebrigio RF, Gaussen M, Speziani F, Ferbert A, Feki I, Caballero-Oteyza A, ... ... Rouleau GA, et al. Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia. American Journal of Human Genetics. 93: 118-23. PMID 23746551 DOI: 10.1016/J.Ajhg.2013.05.006  0.4
2013 Capo-Chichi JM, Tcherkezian J, Hamdan FF, Décarie JC, Dobrzeniecka S, Patry L, Nadon MA, Mucha BE, Major P, Shevell M, Bencheikh BO, Joober R, Samuels ME, Rouleau GA, Roux PP, et al. Disruption of TBC1D7, a subunit of the TSC1-TSC2 protein complex, in intellectual disability and megalencephaly. Journal of Medical Genetics. 50: 740-4. PMID 23687350 DOI: 10.1136/Jmedgenet-2013-101680  0.372
2013 Al-Chalabi A, Kwak S, Mehler M, Rouleau G, Siddique T, Strong M, Leigh PN. Genetic and epigenetic studies of amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration. 14: 44-52. PMID 23678879 DOI: 10.3109/21678421.2013.778571  0.346
2013 Giorgio E, Rolyan H, Kropp L, Chakka AB, Yatsenko S, Di Gregorio E, Lacerenza D, Vaula G, Talarico F, Mandich P, Toro C, Pierre EE, Labauge P, Capellari S, Cortelli P, ... ... Rouleau G, et al. Analysis of LMNB1 duplications in autosomal dominant leukodystrophy provides insights into duplication mechanisms and allele-specific expression. Human Mutation. 34: 1160-71. PMID 23649844 DOI: 10.1002/Humu.22348  0.397
2013 Khoury S, Chouchou F, Amzica F, Giguère JF, Denis R, Rouleau GA, Lavigne GJ. Rapid EEG activity during sleep dominates in mild traumatic brain injury patients with acute pain. Journal of Neurotrauma. 30: 633-41. PMID 23510169 DOI: 10.1089/Neu.2012.2519  0.583
2013 Faraco J, Lin L, Kornum BR, Kenny EE, Trynka G, Einen M, Rico TJ, Lichtner P, Dauvilliers Y, Arnulf I, Lecendreux M, Javidi S, Geisler P, Mayer G, Pizza F, ... ... Rouleau G, et al. ImmunoChip study implicates antigen presentation to T cells in narcolepsy. Plos Genetics. 9: e1003270. PMID 23459209 DOI: 10.1371/Journal.Pgen.1003270  0.641
2013 Kabashi E, El Oussini H, Bercier V, Gros-Louis F, Valdmanis PN, McDearmid J, Mejier IA, Dion PA, Dupre N, Hollinger D, Sinniger J, Dirrig-Grosch S, Camu W, Meininger V, Loeffler JP, ... ... Rouleau GA, et al. Investigating the contribution of VAPB/ALS8 loss of function in amyotrophic lateral sclerosis. Human Molecular Genetics. 22: 2350-60. PMID 23446633 DOI: 10.1093/Hmg/Ddt080  0.356
2013 Jouan L, Girard SL, Dobrzeniecka S, Ambalavanan A, Krebs MO, Joober R, Gauthier J, Dion PA, Rouleau GA. Investigation of rare variants in LRP1, KPNA1, ALS2CL and ZNF480 genes in schizophrenia patients reflects genetic heterogeneity of the disease. Behavioral and Brain Functions : Bbf. 9: 9. PMID 23425335 DOI: 10.1186/1744-9081-9-9  0.396
2013 Lesage S, Le Ber I, Condroyer C, Broussolle E, Gabelle A, Thobois S, Pasquier F, Mondon K, Dion PA, Rochefort D, Rouleau GA, Dürr A, Brice A. C9orf72 repeat expansions are a rare genetic cause of parkinsonism. Brain : a Journal of Neurology. 136: 385-91. PMID 23413259 DOI: 10.1093/Brain/Aws357  0.351
2013 Daoud H, Noreau A, Rochefort D, Paquin-Lanthier G, Gauthier MT, Provencher P, Pourcher E, Dupré N, Chouinard S, Jodoin N, Soland V, Fon EA, Dion PA, Rouleau GA. Investigation of C9orf72 repeat expansions in Parkinson's disease. Neurobiology of Aging. 34: 1710.e7-9. PMID 23273600 DOI: 10.1016/J.Neurobiolaging.2012.11.025  0.305
2013 Piton A, Jouan L, Rochefort D, Dobrzeniecka S, Lachapelle K, Dion PA, Gauthier J, Rouleau GA. Analysis of the effects of rare variants on splicing identifies alterations in GABAA receptor genes in autism spectrum disorder individuals. European Journal of Human Genetics : Ejhg. 21: 749-56. PMID 23169495 DOI: 10.1038/Ejhg.2012.243  0.421
2013 Berryer MH, Hamdan FF, Klitten LL, Møller RS, Carmant L, Schwartzentruber J, Patry L, Dobrzeniecka S, Rochefort D, Neugnot-Cerioli M, Lacaille JC, Niu Z, Eng CM, Yang Y, Palardy S, ... ... Rouleau GA, et al. Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency. Human Mutation. 34: 385-94. PMID 23161826 DOI: 10.1002/Humu.22248  0.32
2013 Cruceanu C, Freemantle E, Alda M, Rouleau GA, Turecki G. Epigenetic regulation of synapsin genes in mood disorders. Neuropsychopharmacology : Official Publication of the American College of Neuropsychopharmacology. 38: 239-41. PMID 23147482 DOI: 10.1038/Npp.2012.186  0.806
2013 Capo-Chichi JM, Bharti SK, Sommers JA, Yammine T, Chouery E, Patry L, Rouleau GA, Samuels ME, Hamdan FF, Michaud JL, Brosh RM, Mégarbane A, Kibar Z. Identification and biochemical characterization of a novel mutation in DDX11 causing Warsaw breakage syndrome. Human Mutation. 34: 103-7. PMID 23033317 DOI: 10.1002/Humu.22226  0.364
2013 Cadieux-Dion M, Andermann E, Lachance-Touchette P, Ansorge O, Meloche C, Barnabé A, Kuzniecky RI, Andermann F, Faught E, Leonberg S, Damiano JA, Berkovic SF, Rouleau GA, Cossette P. Recurrent mutations in DNAJC5 cause autosomal dominant Kufs disease. Clinical Genetics. 83: 571-5. PMID 22978711 DOI: 10.1111/Cge.12020  0.351
2013 Yauk CL, Lucas Argueso J, Auerbach SS, Awadalla P, Davis SR, Demarini DM, Douglas GR, Dubrova YE, Elespuru RK, Glover TW, Hales BF, Hurles ME, Klein CB, Lupski JR, Manchester DK, ... ... Rouleau GA, et al. Harnessing genomics to identify environmental determinants of heritable disease. Mutation Research. 752: 6-9. PMID 22935230 DOI: 10.1016/J.Mrrev.2012.08.002  0.315
2013 Scharf JM, Yu D, Mathews CA, Neale BM, Stewart SE, Fagerness JA, Evans P, Gamazon E, Edlund CK, Service SK, Tikhomirov A, Osiecki L, Illmann C, Pluzhnikov A, Konkashbaev A, ... ... Rouleau GA, et al. Genome-wide association study of Tourette's syndrome. Molecular Psychiatry. 18: 721-8. PMID 22889924 DOI: 10.1038/Mp.2012.69  0.403
2013 Belzil VV, Daoud H, Camu W, Strong MJ, Dion PA, Rouleau GA. Genetic analysis of SIGMAR1 as a cause of familial ALS with dementia. European Journal of Human Genetics : Ejhg. 21: 237-9. PMID 22739338 DOI: 10.1038/Ejhg.2012.135  0.734
2013 Cruceanu C, Alda M, Nagy C, Freemantle E, Rouleau GA, Turecki G. H3K4 tri-methylation in synapsin genes leads to different expression patterns in bipolar disorder and major depression. The International Journal of Neuropsychopharmacology / Official Scientific Journal of the Collegium Internationale Neuropsychopharmacologicum (Cinp). 16: 289-99. PMID 22571925 DOI: 10.1017/S1461145712000363  0.804
2012 Jouan L, Gauthier J, Dion PA, Rouleau GA. Rare variants in complex traits: novel identification strategies and the role of de novo mutations. Human Heredity. 74: 215-25. PMID 23594499 DOI: 10.1159/000346478  0.424
2012 Parmalee N, Mirzozoda K, Kisselev S, Merner N, Dion P, Rouleau G, Clark L, Louis ED. Genetic analysis of the FUS/TLS gene in essential tremor. European Journal of Neurology. 20: 534-539. PMID 23114103 DOI: 10.1111/Ene.12023  0.408
2012 Belzil VV, Rouleau GA. Endoplasmic reticulum lipid rafts and upper motor neuron degeneration. Annals of Neurology. 72: 479-80. PMID 23109142 DOI: 10.1002/Ana.23678  0.644
2012 Srour M, Hamdan FF, Schwartzentruber JA, Patry L, Ospina LH, Shevell MI, Désilets V, Dobrzeniecka S, Mathonnet G, Lemyre E, Massicotte C, Labuda D, Amrom D, Andermann E, Sébire G, ... ... Rouleau GA, et al. Mutations in TMEM231 cause Joubert syndrome in French Canadians. Journal of Medical Genetics. 49: 636-41. PMID 23012439 DOI: 10.1136/Jmedgenet-2012-101132  0.393
2012 Gauthier J, Rouleau GA. De novo mutations in neurological and psychiatric disorders: effects, diagnosis and prevention. Genome Medicine. 4: 71. PMID 23009675 DOI: 10.1186/Gm372  0.418
2012 Daoud H, Suhail H, Sabbagh M, Belzil V, Szuto A, Dionne-Laporte A, Khoris J, Camu W, Salachas F, Meininger V, Mathieu J, Strong M, Dion PA, Rouleau GA. C9orf72 hexanucleotide repeat expansions as the causative mutation for chromosome 9p21-linked amyotrophic lateral sclerosis and frontotemporal dementia. Archives of Neurology. 69: 1159-63. PMID 22964911 DOI: 10.1001/Archneurol.2012.377  0.722
2012 Bourassa CV, Meijer IA, Merner ND, Grewal KK, Stefanelli MG, Hodgkinson K, Ives EJ, Pryse-Phillips W, Jog M, Boycott K, Grimes DA, Goobie S, Leckey R, Dion PA, Rouleau GA. VAMP1 mutation causes dominant hereditary spastic ataxia in Newfoundland families. American Journal of Human Genetics. 91: 548-52. PMID 22958904 DOI: 10.1016/J.Ajhg.2012.07.018  0.402
2012 Merner ND, Girard SL, Catoire H, Bourassa CV, Belzil VV, Rivière JB, Hince P, Levert A, Dionne-Laporte A, Spiegelman D, Noreau A, Diab S, Szuto A, Fournier H, Raelson J, ... ... Rouleau GA, et al. Exome sequencing identifies FUS mutations as a cause of essential tremor. American Journal of Human Genetics. 91: 313-9. PMID 22863194 DOI: 10.1016/J.Ajhg.2012.07.002  0.717
2012 Belzil VV, Rouleau GA. Familial ALS: less common than we think? Journal of Neurology, Neurosurgery, and Psychiatry. 83: 1133. PMID 22791902 DOI: 10.1136/Jnnp-2012-303127  0.688
2012 Williams KL, Warraich ST, Yang S, Solski JA, Fernando R, Rouleau GA, Nicholson GA, Blair IP. UBQLN2/ubiquilin 2 mutation and pathology in familial amyotrophic lateral sclerosis. Neurobiology of Aging. 33: 2527.e3-10. PMID 22717235 DOI: 10.1016/J.Neurobiolaging.2012.05.008  0.355
2012 Mackey J, Brown RD, Moomaw CJ, Sauerbeck L, Hornung R, Gandhi D, Woo D, Kleindorfer D, Flaherty ML, Meissner I, Anderson C, Connolly ES, Rouleau G, Kallmes DF, Torner J, et al. Unruptured intracranial aneurysms in the Familial Intracranial Aneurysm and International Study of Unruptured Intracranial Aneurysms cohorts: Differences in multiplicity and location - Clinical article Journal of Neurosurgery. 117: 60-64. PMID 22540404 DOI: 10.3171/2012.4.Jns111822  0.311
2012 Corcia P, Valdmanis P, Millecamps S, Lionnet C, Blasco H, Mouzat K, Daoud H, Belzil V, Morales R, Pageot N, Danel-Brunaud V, Vandenberghe N, Pradat PF, Couratier P, Salachas F, ... ... Rouleau GA, et al. Phenotype and genotype analysis in amyotrophic lateral sclerosis with TARDBP gene mutations. Neurology. 78: 1519-26. PMID 22539580 DOI: 10.1212/Wnl.0B013E3182553C88  0.721
2012 Girard SL, Dion PA, Rouleau GA. Schizophrenia genetics: putting all the pieces together. Current Neurology and Neuroscience Reports. 12: 261-6. PMID 22456906 DOI: 10.1007/S11910-012-0266-7  0.361
2012 Srour M, Schwartzentruber J, Hamdan FF, Ospina LH, Patry L, Labuda D, Massicotte C, Dobrzeniecka S, Capo-Chichi JM, Papillon-Cavanagh S, Samuels ME, Boycott KM, Shevell MI, Laframboise R, Désilets V, ... ... Rouleau GA, et al. Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population. American Journal of Human Genetics. 90: 693-700. PMID 22425360 DOI: 10.1016/J.Ajhg.2012.02.011  0.34
2012 Shekarabi M, Moldrich RX, Rasheed S, Salin-Cantegrel A, Laganière J, Rochefort D, Hince P, Huot K, Gaudet R, Kurniawan N, Sotocinal SG, Ritchie J, Dion PA, Mogil JS, Richards LJ, ... Rouleau GA, et al. Loss of neuronal potassium/chloride cotransporter 3 (KCC3) is responsible for the degenerative phenotype in a conditional mouse model of hereditary motor and sensory neuropathy associated with agenesis of the corpus callosum. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 32: 3865-76. PMID 22423107 DOI: 10.1523/Jneurosci.3679-11.2012  0.301
2012 Grant A, Fathalli F, Rouleau G, Joober R, Flores C. Association between schizophrenia and genetic variation in DCC: a case-control study. Schizophrenia Research. 137: 26-31. PMID 22418395 DOI: 10.1016/J.Schres.2012.02.023  0.345
2012 Noreau A, Dion PA, Szuto A, Levert A, Thibodeau P, Brais B, Dupré N, Rioux MF, Rouleau GA. CYP7B1 mutations in French-Canadian hereditary spastic paraplegia subjects. The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques. 39: 91-4. PMID 22384504 DOI: 10.1017/S0317167100012774  0.547
2012 Cruceanu C, Alda M, Grof P, Rouleau GA, Turecki G. Synapsin II is involved in the molecular pathway of lithium treatment in bipolar disorder. Plos One. 7: e32680. PMID 22384280 DOI: 10.1371/Journal.Pone.0032680  0.797
2012 Vaccaro A, Tauffenberger A, Aggad D, Rouleau G, Drapeau P, Parker JA. Mutant TDP-43 and FUS cause age-dependent paralysis and neurodegeneration in C. elegans. Plos One. 7: e31321. PMID 22363618 DOI: 10.1371/Journal.Pone.0031321  0.308
2012 Belzil VV, André-Guimont C, Atallah MR, Daoud H, Dupré N, Bouchard JP, Camu W, Dion PA, Rouleau GA. Analysis of the SORT1 gene in familial amyotrophic lateral sclerosis. Neurobiology of Aging. 33: 1845.e7-9. PMID 22361451 DOI: 10.1016/J.Neurobiolaging.2012.01.011  0.717
2012 Andres-Enguix I, Shang L, Stansfeld PJ, Morahan JM, Sansom MS, Lafrenière RG, Roy B, Griffiths LR, Rouleau GA, Ebers GC, Cader ZM, Tucker SJ. Functional analysis of missense variants in the TRESK (KCNK18) K channel. Scientific Reports. 2: 237. PMID 22355750 DOI: 10.1038/Srep00237  0.324
2012 Hand CK, Bernard G, Dubé MP, Shevell MI, Rouleau GA. A novel PLP1 mutation further expands the clinical heterogeneity at the locus. The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques. 39: 220-4. PMID 22343157 DOI: 10.1017/S0317167100013263  0.424
2012 Belzil VV, Rouleau GA. SOD1 mutations: more to learn. The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques. 39: 132-3. PMID 22343144 DOI: 10.1017/S0317167100013135  0.661
2012 Hamdan FF, Saitsu H, Nishiyama K, Gauthier J, Dobrzeniecka S, Spiegelman D, Lacaille JC, Décarie JC, Matsumoto N, Rouleau GA, Michaud JL. Identification of a novel in-frame de novo mutation in SPTAN1 in intellectual disability and pontocerebellar atrophy. European Journal of Human Genetics : Ejhg. 20: 796-800. PMID 22258530 DOI: 10.1038/Ejhg.2011.271  0.337
2012 Belzil VV, Langlais JS, Daoud H, Dion PA, Brais B, Rouleau GA. Novel FUS deletion in a patient with juvenile amyotrophic lateral sclerosis. Archives of Neurology. 69: 653-6. PMID 22248478 DOI: 10.1001/Archneurol.2011.2499  0.781
2012 Daoud H, Zhou S, Noreau A, Sabbagh M, Belzil V, Dionne-Laporte A, Tranchant C, Dion P, Rouleau GA. Exome sequencing reveals SPG11 mutations causing juvenile ALS. Neurobiology of Aging. 33: 839.e5-9. PMID 22154821 DOI: 10.1016/J.Neurobiolaging.2011.11.012  0.814
2012 Shekarabi M, Dion PA, Rouleau GA. Letter to the editors: comment on "hereditary sensory and autonomic neuropathy II due to novel mutation in the HSN2 gene in Mexican families". Journal of Neurology. 259: 565-6. PMID 21847616 DOI: 10.1007/S00415-011-6206-7  0.335
2012 Dupre N, Valdmanis P, Stochmanski S, Belzil V, Dion P, Thiffault I, Brais B, Weston L, Saint-Amant L, Samuels M, Rouleau G. A Mutation in the RNF170 Gene Causes Autosomal Dominant Sensory Ataxia (P05.014) Neurology. 78: P05.014-P05.014. DOI: 10.1212/Wnl.78.1_Meetingabstracts.P05.014  0.78
2012 Clark L, Mirzozoda K, Merner N, Dion P, Rouleau G, Louis E. Analysis of the FUS/TLS Gene in Essential Tremor (P04.049) Neurology. 78: P04.049-P04.049. DOI: 10.1212/Wnl.78.1_Meetingabstracts.P04.049  0.313
2012 Scharf J, Yu D, Mathews C, Neale B, Stewart E, Fagerness J, Evans P, Gamazon E, Service S, Osiecki L, Illmann C, Cath D, King R, Dion Y, Sandor P, ... ... Rouleau G, et al. Genome-Wide Association Study of Gilles de la Tourette Syndrome (IN10-1.002) Neurology. 78: IN10-1.002-IN10-1.00. DOI: 10.1212/Wnl.78.1_Meetingabstracts.In10-1.002  0.371
2011 Cilia La Corte AL, Carter AM, Rice GI, Duan QL, Rouleau GA, Adam A, Grant PJ, Hooper NM. A functional XPNPEP2 promoter haplotype leads to reduced plasma aminopeptidase P and increased risk of ACE inhibitor-induced angioedema. Human Mutation. 32: 1326-31. PMID 21898657 DOI: 10.1002/Humu.21579  0.33
2011 Kabashi E, Bercier V, Lissouba A, Liao M, Brustein E, Rouleau GA, Drapeau P. FUS and TARDBP but not SOD1 interact in genetic models of amyotrophic lateral sclerosis. Plos Genetics. 7: e1002214. PMID 21829392 DOI: 10.1371/Journal.Pgen.1002214  0.363
2011 Rivière JB, Ramalingam S, Lavastre V, Shekarabi M, Holbert S, Lafontaine J, Srour M, Merner N, Rochefort D, Hince P, Gaudet R, Mes-Masson AM, Baets J, Houlden H, Brais B, ... ... Rouleau GA, et al. KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2. American Journal of Human Genetics. 89: 219-30. PMID 21820098 DOI: 10.1016/J.Ajhg.2011.06.013  0.61
2011 Fortier E, Noreau A, Lepore F, Boivin M, Pérusse D, Rouleau GA, Beauregard M. Early influence of the rs4675690 on the neural substrates of sadness. Journal of Affective Disorders. 135: 336-40. PMID 21807415 DOI: 10.1016/J.Jad.2011.06.039  0.302
2011 Winkelmann J, Czamara D, Schormair B, Knauf F, Schulte EC, Trenkwalder C, Dauvilliers Y, Polo O, Högl B, Berger K, Fuhs A, Gross N, Stiasny-Kolster K, Oertel W, Bachmann CG, ... ... Rouleau GA, et al. Genome-wide association study identifies novel restless legs syndrome susceptibility loci on 2p14 and 16q12.1. Plos Genetics. 7: e1002171. PMID 21779176 DOI: 10.1371/Journal.Pgen.1002171  0.367
2011 Girard SL, Gauthier J, Noreau A, Xiong L, Zhou S, Jouan L, Dionne-Laporte A, Spiegelman D, Henrion E, Diallo O, Thibodeau P, Bachand I, Bao JY, Tong AH, Lin CH, ... ... Rouleau GA, et al. Increased exonic de novo mutation rate in individuals with schizophrenia. Nature Genetics. 43: 860-3. PMID 21743468 DOI: 10.1038/Ng.886  0.674
2011 Gillis RF, Rouleau GA. The ongoing dissection of the genetic architecture of autistic spectrum disorder. Molecular Autism. 2: 12. PMID 21740537 DOI: 10.1186/2040-2392-2-12  0.424
2011 Catoire H, Dion PA, Xiong L, Amari M, Gaudet R, Girard SL, Noreau A, Gaspar C, Turecki G, Montplaisir JY, Parker JA, Rouleau GA. Restless legs syndrome-associated MEIS1 risk variant influences iron homeostasis. Annals of Neurology. 70: 170-5. PMID 21710629 DOI: 10.1002/Ana.22435  0.495
2011 Daoud H, Belzil V, Martins S, Sabbagh M, Provencher P, Lacomblez L, Meininger V, Camu W, Dupré N, Dion PA, Rouleau GA. Association of long ATXN2 CAG repeat sizes with increased risk of amyotrophic lateral sclerosis. Archives of Neurology. 68: 739-42. PMID 21670397 DOI: 10.1001/Archneurol.2011.111  0.705
2011 Conrad DF, Keebler JE, DePristo MA, Lindsay SJ, Zhang Y, Casals F, Idaghdour Y, Hartl CL, Torroja C, Garimella KV, Zilversmit M, Cartwright R, Rouleau GA, Daly M, Stone EA, et al. Variation in genome-wide mutation rates within and between human families. Nature Genetics. 43: 712-4. PMID 21666693 DOI: 10.1038/Ng.862  0.318
2011 Salin-Cantegrel A, Rivière JB, Shekarabi M, Rasheed S, Dacal S, Laganière J, Gaudet R, Rochefort D, Lesca G, Gaspar C, Dion PA, Lapointe JY, Rouleau GA. Transit defect of potassium-chloride Co-transporter 3 is a major pathogenic mechanism in hereditary motor and sensory neuropathy with agenesis of the corpus callosum. The Journal of Biological Chemistry. 286: 28456-65. PMID 21628467 DOI: 10.1074/Jbc.M111.226894  0.301
2011 Fassio A, Patry L, Congia S, Onofri F, Piton A, Gauthier J, Pozzi D, Messa M, Defranchi E, Fadda M, Corradi A, Baldelli P, Lapointe L, St-Onge J, Meloche C, ... ... Rouleau GA, et al. SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function. Human Molecular Genetics. 20: 2297-307. PMID 21441247 DOI: 10.1093/Hmg/Ddr122  0.347
2011 Gauthier J, Siddiqui TJ, Huashan P, Yokomaku D, Hamdan FF, Champagne N, Lapointe M, Spiegelman D, Noreau A, Lafrenière RG, Fathalli F, Joober R, Krebs MO, DeLisi LE, Mottron L, ... ... Rouleau GA, et al. Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia. Human Genetics. 130: 563-73. PMID 21424692 DOI: 10.1007/S00439-011-0975-Z  0.409
2011 Belzil VV, Daoud H, Dion PA, Rouleau GA. No effect on SOD1 splicing by TARDP or FUS mutations. Archives of Neurology. 68: 395-6. PMID 21403029 DOI: 10.1001/Archneurol.2011.1  0.675
2011 Myers RA, Casals F, Gauthier J, Hamdan FF, Keebler J, Boyko AR, Bustamante CD, Piton AM, Spiegelman D, Henrion E, Zilversmit M, Hussin J, Quinlan J, Yang Y, Lafrenière RG, ... ... Rouleau GA, et al. A population genetic approach to mapping neurological disorder genes using deep resequencing. Plos Genetics. 7: e1001318. PMID 21383861 DOI: 10.1371/Journal.Pgen.1001318  0.449
2011 Hamdan FF, Gauthier J, Araki Y, Lin DT, Yoshizawa Y, Higashi K, Park AR, Spiegelman D, Dobrzeniecka S, Piton A, Tomitori H, Daoud H, Massicotte C, Henrion E, Diallo O, ... ... Rouleau GA, et al. Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability. American Journal of Human Genetics. 88: 306-16. PMID 21376300 DOI: 10.1016/J.Ajhg.2011.03.011  0.38
2011 Hamdan FF, Gauthier J, Dobrzeniecka S, Lortie A, Mottron L, Vanasse M, D'Anjou G, Lacaille JC, Rouleau GA, Michaud JL. Intellectual disability without epilepsy associated with STXBP1 disruption. European Journal of Human Genetics : Ejhg. 19: 607-9. PMID 21364700 DOI: 10.1038/Ejhg.2010.183  0.352
2011 Camdessanché JP, Belzil VV, Jousserand G, Rouleau GA, Créac'h C, Convers P, Antoine JC. Sensory and motor neuronopathy in a patient with the A382P TDP-43 mutation. Orphanet Journal of Rare Diseases. 6: 4. PMID 21294910 DOI: 10.1186/1750-1172-6-4  0.714
2011 Girard SL, Xiong L, Dion PA, Rouleau GA. Where are the missing pieces of the schizophrenia genetics puzzle? Current Opinion in Genetics & Development. 21: 310-6. PMID 21277191 DOI: 10.1016/J.Gde.2011.01.001  0.368
2011 Bourassa CV, Rivière JB, Dion PA, Bernard G, Diab S, Panisset M, Chouinard S, Dupré N, Fournier H, Raelson J, Belouchi M, Rouleau GA. LINGO1 variants in the French-Canadian population. Plos One. 6: e16254. PMID 21264305 DOI: 10.1371/Journal.Pone.0016254  0.418
2011 Belzil VV, Daoud H, St-Onge J, Desjarlais A, Bouchard JP, Dupre N, Lacomblez L, Salachas F, Pradat PF, Meininger V, Camu W, Dion PA, Rouleau GA. Identification of novel FUS mutations in sporadic cases of amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis : Official Publication of the World Federation of Neurology Research Group On Motor Neuron Diseases. 12: 113-7. PMID 21261515 DOI: 10.3109/17482968.2010.536840  0.736
2011 Hamdan FF, Daoud H, Piton A, Gauthier J, Dobrzeniecka S, Krebs MO, Joober R, Lacaille JC, Nadeau A, Milunsky JM, Wang Z, Carmant L, Mottron L, Beauchamp MH, Rouleau GA, et al. De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism. Biological Psychiatry. 69: 898-901. PMID 21237447 DOI: 10.1016/J.Biopsych.2010.11.015  0.387
2011 Daoud H, Valdmanis PN, Gros-Louis F, Belzil V, Spiegelman D, Henrion E, Diallo O, Desjarlais A, Gauthier J, Camu W, Dion PA, Rouleau GA. Resequencing of 29 candidate genes in patients with familial and sporadic amyotrophic lateral sclerosis. Archives of Neurology. 68: 587-93. PMID 21220648 DOI: 10.1001/Archneurol.2010.351  0.731
2011 Kornum BR, Kawashima M, Faraco J, Lin L, Rico TJ, Hesselson S, Axtell RC, Kuipers H, Weiner K, Hamacher A, Kassack MU, Han F, Knudsen S, Li J, Dong X, ... ... Rouleau GA, et al. Common variants in P2RY11 are associated with narcolepsy. Nature Genetics. 43: 66-71. PMID 21170044 DOI: 10.1038/Ng.734  0.712
2011 Belzil VV, St-Onge J, Daoud H, Desjarlais A, Bouchard JP, Dupré N, Camu W, Dion PA, Rouleau GA. Identification of a FUS splicing mutation in a large family with amyotrophic lateral sclerosis. Journal of Human Genetics. 56: 247-9. PMID 21160488 DOI: 10.1038/Jhg.2010.162  0.724
2011 Merner ND, Dion PA, Rouleau GA. Recent advances in the genetics of distal hereditary motor neuropathy give insight to a disease mechanism involving copper homeostasis that may extend to other motor neuron disorders. Clinical Genetics. 79: 23-34. PMID 21143467 DOI: 10.1111/J.1399-0004.2010.01591.X  0.334
2011 Valdmanis PN, Dupré N, Lachance M, Stochmanski SJ, Belzil VV, Dion PA, Thiffault I, Brais B, Weston L, Saint-Amant L, Samuels ME, Rouleau GA. A mutation in the RNF170 gene causes autosomal dominant sensory ataxia. Brain : a Journal of Neurology. 134: 602-7. PMID 21115467 DOI: 10.1093/Brain/Awq329  0.78
2011 Cruceanu C, Alda M, Rouleau G, Turecki G. Response to treatment in bipolar disorder. Current Opinion in Psychiatry. 24: 24-8. PMID 21088584 DOI: 10.1097/Yco.0B013E328341352C  0.798
2011 Belzil VV, Daoud H, Desjarlais A, Bouchard JP, Dupré N, Camu W, Dion PA, Rouleau GA. Analysis of OPTN as a causative gene for amyotrophic lateral sclerosis. Neurobiology of Aging. 32: 555.e13-4. PMID 21074290 DOI: 10.1016/J.Neurobiolaging.2010.10.001  0.728
2011 Piton A, Gauthier J, Hamdan FF, Lafrenière RG, Yang Y, Henrion E, Laurent S, Noreau A, Thibodeau P, Karemera L, Spiegelman D, Kuku F, Duguay J, Destroismaisons L, Jolivet P, ... ... Rouleau GA, et al. Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia. Molecular Psychiatry. 16: 867-80. PMID 20479760 DOI: 10.1038/mp.2010.54  0.308
2011 Girard SL, Rouleau GA. How de novo mutation studies will change our view of the genetics of neurological and psychiatric disorders Future Neurology. 6: 719-721. DOI: 10.2217/Fnl.11.52  0.385
2011 Kornum BR, Kawashima M, Faraco J, Lin L, Rico TJ, Hesselson S, Axtell RC, Kuipers H, Weiner K, Hamacher A, Kassack MU, Han F, Knudsen S, Li J, Dong X, ... ... Rouleau GA, et al. Erratum: Common variants in P2RY11 are associated with narcolepsy Nature Genetics. 43: 1040-1040. DOI: 10.1038/Ng1011-1040B  0.686
2010 McLarren KW, Severson TM, du Souich C, Stockton DW, Kratz LE, Cunningham D, Hendson G, Morin RD, Wu D, Paul JE, An J, Nelson TN, Chou A, DeBarber AE, Merkens LS, ... ... Rouleau GA, et al. Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome. American Journal of Human Genetics. 87: 905-14. PMID 21129721 DOI: 10.1016/J.Ajhg.2010.11.004  0.36
2010 Hamdan FF, Daoud H, Rochefort D, Piton A, Gauthier J, Langlois M, Foomani G, Dobrzeniecka S, Krebs MO, Joober R, Lafrenière RG, Lacaille JC, Mottron L, Drapeau P, Beauchamp MH, ... ... Rouleau GA, et al. De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairment. American Journal of Human Genetics. 87: 671-8. PMID 20950788 DOI: 10.1016/J.Ajhg.2010.09.017  0.34
2010 Lafrenière RG, Cader MZ, Poulin JF, Andres-Enguix I, Simoneau M, Gupta N, Boisvert K, Lafrenière F, McLaughlan S, Dubé MP, Marcinkiewicz MM, Ramagopalan S, Ansorge O, Brais B, Sequeiros J, ... ... Rouleau GA, et al. A dominant-negative mutation in the TRESK potassium channel is linked to familial migraine with aura. Nature Medicine. 16: 1157-60. PMID 20871611 DOI: 10.1038/Nm.2216  0.58
2010 Noor A, Whibley A, Marshall CR, Gianakopoulos PJ, Piton A, Carson AR, Orlic-Milacic M, Lionel AC, Sato D, Pinto D, Drmic I, Noakes C, Senman L, Zhang X, Mo R, ... ... Rouleau GA, et al. Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability. Science Translational Medicine. 2: 49ra68. PMID 20844286 DOI: 10.1126/Scitranslmed.3001267  0.383
2010 Daoud H, Belzil V, Dion PA, Rouleau GA. Chromosome 9p21 in amyotrophic lateral sclerosis: the plot thickens. The Lancet. Neurology. 9: 945-7. PMID 20801719 DOI: 10.1016/S1474-4422(10)70211-8  0.664
2010 Awadalla P, Gauthier J, Myers RA, Casals F, Hamdan FF, Griffing AR, Côté M, Henrion E, Spiegelman D, Tarabeux J, Piton A, Yang Y, Boyko A, Bustamante C, Xiong L, ... ... Rouleau GA, et al. Direct measure of the de novo mutation rate in autism and schizophrenia cohorts. American Journal of Human Genetics. 87: 316-24. PMID 20797689 DOI: 10.1016/J.Ajhg.2010.07.019  0.387
2010 Lopez de Lara C, Jaitovich-Groisman I, Cruceanu C, Mamdani F, Lebel V, Yerko V, Beck A, Young LT, Rouleau G, Grof P, Alda M, Turecki G. Implication of synapse-related genes in bipolar disorder by linkage and gene expression analyses. The International Journal of Neuropsychopharmacology / Official Scientific Journal of the Collegium Internationale Neuropsychopharmacologicum (Cinp). 13: 1397-410. PMID 20667171 DOI: 10.1017/S1461145710000714  0.818
2010 Tarabeux J, Champagne N, Brustein E, Hamdan FF, Gauthier J, Lapointe M, Maios C, Piton A, Spiegelman D, Henrion E, Millet B, Rapoport JL, Delisi LE, Joober R, ... ... Rouleau GA, et al. De novo truncating mutation in Kinesin 17 associated with schizophrenia. Biological Psychiatry. 68: 649-56. PMID 20646681 DOI: 10.1016/J.Biopsych.2010.04.018  0.398
2010 Millecamps S, Salachas F, Cazeneuve C, Gordon P, Bricka B, Camuzat A, Guillot-Noël L, Russaouen O, Bruneteau G, Pradat PF, Le Forestier N, Vandenberghe N, Danel-Brunaud V, Guy N, Thauvin-Robinet C, ... ... Rouleau G, et al. SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations. Journal of Medical Genetics. 47: 554-60. PMID 20577002 DOI: 10.1136/Jmg.2010.077180  0.353
2010 Kudo LC, Parfenova L, Vi N, Lau K, Pomakian J, Valdmanis P, Rouleau GA, Vinters HV, Wiedau-Pazos M, Karsten SL. Integrative gene-tissue microarray-based approach for identification of human disease biomarkers: application to amyotrophic lateral sclerosis. Human Molecular Genetics. 19: 3233-53. PMID 20530642 DOI: 10.1093/Hmg/Ddq232  0.354
2010 Macintyre G, Alford T, Xiong L, Rouleau GA, Tibbo PG, Cox DW. Association of NPAS3 exonic variation with schizophrenia. Schizophrenia Research. 120: 143-9. PMID 20466522 DOI: 10.1016/J.Schres.2010.04.002  0.344
2010 Felbecker A, Camu W, Valdmanis PN, Sperfeld AD, Waibel S, Steinbach P, Rouleau GA, Ludolph AC, Andersen PM. Four familial ALS pedigrees discordant for two SOD1 mutations: are all SOD1 mutations pathogenic? Journal of Neurology, Neurosurgery, and Psychiatry. 81: 572-7. PMID 20460594 DOI: 10.1136/Jnnp.2009.192310  0.367
2010 Xiong L, Montplaisir J, Desautels A, Barhdadi A, Turecki G, Levchenko A, Thibodeau P, Dubé MP, Gaspar C, Rouleau GA. Family study of restless legs syndrome in Quebec, Canada: clinical characterization of 671 familial cases. Archives of Neurology. 67: 617-22. PMID 20457962 DOI: 10.1001/Archneurol.2010.67  0.69
2010 Schulze TG, Alda M, Adli M, Akula N, Ardau R, Bui ET, Chillotti C, Cichon S, Czerski P, Del Zompo M, Detera-Wadleigh SD, Grof P, Gruber O, Hashimoto R, Hauser J, ... ... Rouleau G, et al. The International Consortium on Lithium Genetics (ConLiGen): an initiative by the NIMH and IGSLI to study the genetic basis of response to lithium treatment. Neuropsychobiology. 62: 72-8. PMID 20453537 DOI: 10.1159/000314708  0.699
2010 Srour M, Rivière JB, Pham JM, Dubé MP, Girard S, Morin S, Dion PA, Asselin G, Rochefort D, Hince P, Diab S, Sharafaddinzadeh N, Chouinard S, Théoret H, Charron F, ... Rouleau GA, et al. Mutations in DCC cause congenital mirror movements. Science (New York, N.Y.). 328: 592. PMID 20431009 DOI: 10.1126/Science.1186463  0.339
2010 Daoud H, Belzil V, Desjarlais A, Camu W, Dion PA, Rouleau GA. Analysis of the UNC13A gene as a risk factor for sporadic amyotrophic lateral sclerosis. Archives of Neurology. 67: 516-7. PMID 20385924 DOI: 10.1001/Archneurol.2010.46  0.691
2010 Gauthier J, Champagne N, Lafrenière RG, Xiong L, Spiegelman D, Brustein E, Lapointe M, Peng H, Côté M, Noreau A, Hamdan FF, Addington AM, Rapoport JL, Delisi LE, Krebs MO, ... ... Rouleau GA, et al. De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia. Proceedings of the National Academy of Sciences of the United States of America. 107: 7863-8. PMID 20385823 DOI: 10.1073/Pnas.0906232107  0.371
2010 Pasco MY, Catoire H, Parker JA, Brais B, Rouleau GA, Néri C. Cross-talk between canonical Wnt signaling and the sirtuin-FoxO longevity pathway to protect against muscular pathology induced by mutant PABPN1 expression in C. elegans. Neurobiology of Disease. 38: 425-33. PMID 20227501 DOI: 10.1016/J.Nbd.2010.03.002  0.546
2010 Rivière JB, St-Onge J, Gaspar C, Diab S, Dion Y, Lespérance P, Tellier G, Richer F, Chouinard S, Dubé MP, Rouleau GA. Genome-wide TDT analysis in French-Canadian families with Tourette syndrome. The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques. 37: 110-2. PMID 20169783 DOI: 10.1017/S0317167100009744  0.307
2010 Daoud H, Valdmanis PN, Dion PA, Rouleau GA. Analysis of DPP6 and FGGY as candidate genes for amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis : Official Publication of the World Federation of Neurology Research Group On Motor Neuron Diseases. 11: 389-91. PMID 20001489 DOI: 10.3109/17482960903358857  0.378
2010 Kabashi E, Lin L, Tradewell ML, Dion PA, Bercier V, Bourgouin P, Rochefort D, Bel Hadj S, Durham HD, Vande Velde C, Rouleau GA, Drapeau P. Gain and loss of function of ALS-related mutations of TARDBP (TDP-43) cause motor deficits in vivo. Human Molecular Genetics. 19: 671-83. PMID 19959528 DOI: 10.1093/Hmg/Ddp534  0.33
2010 Graeni C, Stepper F, Sturzenegger M, Merlo A, Verlaan DJ, Andermann F, Baumann CR, Bonassin F, Georgiadis D, Baumgartner RW, Rouleau GA, Siegel AM. Inherited cavernous malformations of the central nervous system: clinical and genetic features in 19 Swiss families. Neurosurgical Review. 33: 47-51. PMID 19760287 DOI: 10.1007/S10143-009-0225-1  0.363
2010 Kabashi E, Valdmanis PN, Daoud H, Belzil VV, Dion PA, Rouleau GA. TDP–43, Protein Aggregation, and Amyotrophic Lateral Sclerosis Us Neurology. 5: 35. DOI: 10.17925/Usn.2010.05.02.35  0.65
2010 Lavigne G, Blanchet P, Khoury S, Carra MC, Rouleau G, Denis R. Headache and sleep: Guidance in recognition | Céphalées et sommeil : Un survol diagnostique et un guide pour le clinicien Douleur Et Analgesie. 23: 175-180. DOI: 10.1007/S11724-010-0207-7  0.58
2009 Gros-Louis F, Andersen PM, Dupre N, Urushitani M, Dion P, Souchon F, D'Amour M, Camu W, Meininger V, Bouchard JP, Rouleau GA, Julien JP. Chromogranin B P413L variant as risk factor and modifier of disease onset for amyotrophic lateral sclerosis. Proceedings of the National Academy of Sciences of the United States of America. 106: 21777-82. PMID 20007371 DOI: 10.1073/Pnas.0902174106  0.359
2009 Valdmanis PN, Belzil VV, Lee J, Dion PA, St-Onge J, Hince P, Funalot B, Couratier P, Clavelou P, Camu W, Rouleau GA. A mutation that creates a pseudoexon in SOD1 causes familial ALS. Annals of Human Genetics. 73: 652-7. PMID 19847927 DOI: 10.1111/J.1469-1809.2009.00546.X  0.724
2009 Dion PA, Daoud H, Rouleau GA. Genetics of motor neuron disorders: new insights into pathogenic mechanisms. Nature Reviews. Genetics. 10: 769-82. PMID 19823194 DOI: 10.1038/Nrg2680  0.396
2009 Rivière JB, Xiong L, Levchenko A, St-Onge J, Gaspar C, Dion Y, Lespérance P, Tellier G, Richer F, Chouinard S, Rouleau GA. Association of intronic variants of the BTBD9 gene with Tourette syndrome. Archives of Neurology. 66: 1267-72. PMID 19822783 DOI: 10.1001/Archneurol.2009.213  0.404
2009 Belzil VV, Valdmanis PN, Dion PA, Daoud H, Kabashi E, Noreau A, Gauthier J, Hince P, Desjarlais A, Bouchard JP, Lacomblez L, Salachas F, Pradat PF, Camu W, ... ... Rouleau GA, et al. Mutations in FUS cause FALS and SALS in French and French Canadian populations. Neurology. 73: 1176-9. PMID 19741216 DOI: 10.1212/Wnl.0B013E3181Bbfeef  0.722
2009 Srour M, Philibert M, Dion MH, Duquette A, Richer F, Rouleau GA, Chouinard S. Familial congenital mirror movements: report of a large 4-generation family. Neurology. 73: 729-31. PMID 19720981 DOI: 10.1212/Wnl.0B013E3181B59Bda  0.645
2009 Sequeira A, Mamdani F, Ernst C, Vawter MP, Bunney WE, Lebel V, Rehal S, Klempan T, Gratton A, Benkelfat C, Rouleau GA, Mechawar N, Turecki G. Global brain gene expression analysis links glutamatergic and GABAergic alterations to suicide and major depression. Plos One. 4: e6585. PMID 19668376 DOI: 10.1371/Journal.Pone.0006585  0.79
2009 Hamdan FF, Piton A, Gauthier J, Lortie A, Dubeau F, Dobrzeniecka S, Spiegelman D, Noreau A, Pellerin S, Côté M, Henrion E, Fombonne E, Mottron L, Marineau C, Drapeau P, ... ... Rouleau GA, et al. De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy. Annals of Neurology. 65: 748-53. PMID 19557857 DOI: 10.1002/Ana.21625  0.326
2009 Laforce R, Valdmanis PN, Dupré N, Rouleau GA, Turgeon AF, Savard M. A novel TYMP mutation in a French Canadian patient with mitochondrial neurogastrointestinal encephalomyopathy. Clinical Neurology and Neurosurgery. 111: 691-4. PMID 19523753 DOI: 10.1016/J.Clineuro.2009.05.005  0.343
2009 Hallmayer J, Faraco J, Lin L, Hesselson S, Winkelmann J, Kawashima M, Mayer G, Plazzi G, Nevsimalova S, Bourgin P, Hong SC, Hong SS, Honda Y, Honda M, Högl B, ... ... Rouleau GA, et al. Narcolepsy is strongly associated with the T-cell receptor alpha locus. Nature Genetics. 41: 708-11. PMID 19412176 DOI: 10.1038/Ng.372  0.719
2009 Valdmanis PN, Daoud H, Dion PA, Rouleau GA. Recent advances in the genetics of amyotrophic lateral sclerosis. Current Neurology and Neuroscience Reports. 9: 198-205. PMID 19348708 DOI: 10.1007/S11910-009-0030-9  0.409
2009 Wills AM, Cronin S, Slowik A, Kasperaviciute D, Van Es MA, Morahan JM, Valdmanis PN, Meininger V, Melki J, Shaw CE, Rouleau GA, Fisher EM, Shaw PJ, Morrison KE, Pamphlett R, et al. A large-scale international meta-analysis of paraoxonase gene polymorphisms in sporadic ALS. Neurology. 73: 16-24. PMID 19321847 DOI: 10.1212/Wnl.0B013E3181A18674  0.362
2009 Kwiatkowski TJ, Bosco DA, Leclerc AL, Tamrazian E, Vanderburg CR, Russ C, Davis A, Gilchrist J, Kasarskis EJ, Munsat T, Valdmanis P, Rouleau GA, Hosler BA, Cortelli P, de Jong PJ, et al. Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis. Science (New York, N.Y.). 323: 1205-8. PMID 19251627 DOI: 10.1126/Science.1166066  0.391
2009 Hamdan FF, Gauthier J, Spiegelman D, Noreau A, Yang Y, Pellerin S, Dobrzeniecka S, Côté M, Perreau-Linck E, Perreault-Linck E, Carmant L, D'Anjou G, Fombonne E, Addington AM, Rapoport JL, ... ... Rouleau GA, et al. Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation. The New England Journal of Medicine. 360: 599-605. PMID 19196676 DOI: 10.1056/Nejmoa0805392  0.35
2009 Duan QL, Binkley K, Rouleau GA. Genetic analysis of Factor XII and bradykinin catabolic enzymes in a family with estrogen-dependent inherited angioedema. The Journal of Allergy and Clinical Immunology. 123: 906-10. PMID 19178938 DOI: 10.1016/J.Jaci.2008.12.010  0.358
2009 Foroud T, Sauerbeck L, Brown R, Anderson C, Woo D, Kleindorfer D, Flaherty ML, Deka R, Hornung R, Meissner I, Bailey-Wilson JE, Langefeld C, Rouleau G, Connolly ES, Lai D, et al. Genome screen in familial intracranial aneurysm. Bmc Medical Genetics. 10: 3. PMID 19144135 DOI: 10.1186/1471-2350-10-3  0.301
2009 Xiong L, Catoire H, Dion P, Gaspar C, Lafrenière RG, Girard SL, Levchenko A, Rivière JB, Fiori L, St-Onge J, Bachand I, Thibodeau P, Allen R, Earley C, Turecki G, ... ... Rouleau GA, et al. MEIS1 intronic risk haplotype associated with restless legs syndrome affects its mRNA and protein expression levels. Human Molecular Genetics. 18: 1065-74. PMID 19126776 DOI: 10.1093/Hmg/Ddn443  0.76
2009 Levchenko A, Montplaisir JY, Asselin G, Provost S, Girard SL, Xiong L, Lemyre E, St-Onge J, Thibodeau P, Desautels A, Turecki G, Gaspar C, Dubé MP, Rouleau GA. Autosomal-dominant locus for Restless Legs Syndrome in French-Canadians on chromosome 16p12.1. Movement Disorders : Official Journal of the Movement Disorder Society. 24: 40-50. PMID 18946881 DOI: 10.1002/Mds.22263  0.715
2009 Gauthier J, Spiegelman D, Piton A, Lafrenière RG, Laurent S, St-Onge J, Lapointe L, Hamdan FF, Cossette P, Mottron L, Fombonne E, Joober R, Marineau C, Drapeau P, Rouleau GA. Novel de novo SHANK3 mutation in autistic patients. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 150: 421-4. PMID 18615476 DOI: 10.1002/Ajmg.B.30822  0.399
2009 Hallmayer J, Faraco J, Lin L, Hesselson S, Winkelmann J, Kawashima M, Mayer G, Plazzi G, Nevsimalova S, Bourgin P, Hong SS, Honda Y, Honda M, Högl B, Longstreth WT, ... ... Rouleau GA, et al. Erratum: Narcolepsy is strongly associated with the T-cell receptor alpha locus Nature Genetics. 41: 859-859. DOI: 10.1038/Ng0709-859B  0.675
2009 Xiong L, Turecki G, Levchenko A, Gaspar C, Hening WA, Montplaisir J, Rouleau GA. Genetics of Restless Legs Syndrome Restless Legs Syndrome. 31-49. DOI: 10.1016/B978-075067518-5.10008-4  0.404
2008 Piton A, Michaud JL, Peng H, Aradhya S, Gauthier J, Mottron L, Champagne N, Lafrenière RG, Hamdan FF, Joober R, Fombonne E, Marineau C, Cossette P, Dubé MP, ... ... Rouleau GA, et al. Mutations in the calcium-related gene IL1RAPL1 are associated with autism. Human Molecular Genetics. 17: 3965-74. PMID 18801879 DOI: 10.1093/Hmg/Ddn300  0.387
2008 Tseng M, Alda M, Xu L, Sun X, Wang JF, Grof P, Turecki G, Rouleau G, Young LT. BDNF protein levels are decreased in transformed lymphoblasts from lithium-responsive patients with bipolar disorder. Journal of Psychiatry & Neuroscience : Jpn. 33: 449-53. PMID 18787660  0.651
2008 Chrestian N, Valdmanis PN, Echahidi N, Brunet D, Bouchard JP, Gould P, Rouleau GA, Champagne J, Dupré N. A novel mutation in a large French-Canadian family with LGMD1B. The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques. 35: 331-4. PMID 18714801 DOI: 10.1017/S031716710000891X  0.367
2008 Schormair B, Kemlink D, Roeske D, Eckstein G, Xiong L, Lichtner P, Ripke S, Trenkwalder C, Zimprich A, Stiasny-Kolster K, Oertel W, Bachmann CG, Paulus W, Högl B, Frauscher B, ... ... Rouleau G, et al. PTPRD (protein tyrosine phosphatase receptor type delta) is associated with restless legs syndrome. Nature Genetics. 40: 946-8. PMID 18660810 DOI: 10.1038/Ng.190  0.493
2008 Broom WJ, Greenway M, Sadri-Vakili G, Russ C, Auwarter KE, Glajch KE, Dupre N, Swingler RJ, Purcell S, Hayward C, Sapp PC, McKenna-Yasek D, Valdmanis PN, Bouchard JP, Meininger V, ... ... Rouleau GA, et al. 50bp deletion in the promoter for superoxide dismutase 1 (SOD1) reduces SOD1 expression in vitro and may correlate with increased age of onset of sporadic amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis : Official Publication of the World Federation of Neurology Research Group On Motor Neuron Diseases. 9: 229-37. PMID 18608091 DOI: 10.1080/17482960802103107  0.368
2008 Gros-Louis F, Kriz J, Kabashi E, McDearmid J, Millecamps S, Urushitani M, Lin L, Dion P, Zhu Q, Drapeau P, Julien JP, Rouleau GA. Als2 mRNA splicing variants detected in KO mice rescue severe motor dysfunction phenotype in Als2 knock-down zebrafish. Human Molecular Genetics. 17: 2691-702. PMID 18558633 DOI: 10.1093/Hmg/Ddn171  0.306
2008 Shekarabi M, Girard N, Rivière JB, Dion P, Houle M, Toulouse A, Lafrenière RG, Vercauteren F, Hince P, Laganiere J, Rochefort D, Faivre L, Samuels M, Rouleau GA. Mutations in the nervous system--specific HSN2 exon of WNK1 cause hereditary sensory neuropathy type II. The Journal of Clinical Investigation. 118: 2496-505. PMID 18521183 DOI: 10.1172/Jci34088  0.328
2008 Khoury S, Rouleau GA, Rompré PH, Mayer P, Montplaisir JY, Lavigne GJ. A significant increase in breathing amplitude precedes sleep bruxism. Chest. 134: 332-7. PMID 18490400 DOI: 10.1378/Chest.08-0115  0.607
2008 Catoire H, Pasco MY, Abu-Baker A, Holbert S, Tourette C, Brais B, Rouleau GA, Parker JA, Néri C. Sirtuin inhibition protects from the polyalanine muscular dystrophy protein PABPN1. Human Molecular Genetics. 17: 2108-17. PMID 18397876 DOI: 10.1093/Hmg/Ddn109  0.537
2008 Kabashi E, Valdmanis PN, Dion P, Spiegelman D, McConkey BJ, Vande Velde C, Bouchard JP, Lacomblez L, Pochigaeva K, Salachas F, Pradat PF, Camu W, Meininger V, Dupre N, Rouleau GA. TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis. Nature Genetics. 40: 572-4. PMID 18372902 DOI: 10.1038/Ng.132  0.345
2008 Klein AF, Ebihara M, Alexander C, Dicaire MJ, Sasseville AM, Langelier Y, Rouleau GA, Brais B. PABPN1 polyalanine tract deletion and long expansions modify its aggregation pattern and expression. Experimental Cell Research. 314: 1652-66. PMID 18367172 DOI: 10.1016/J.Yexcr.2008.02.005  0.567
2008 Dupré N, Chrestian N, Thiffault I, Brais B, Rouleau GA, Bouchard JP. [Hereditary ataxias, spastic parapareses and neuropathies in Eastern Canada]. Revue Neurologique. 164: 12-21. PMID 18342054 DOI: 10.1016/J.Neurol.2007.08.006  0.628
2008 Kinirons P, Verlaan DJ, Dubé MP, Poirier J, Deacon C, Lortie A, Clément JF, Desbiens R, Carmant L, Cieuta-Walti C, Shevell M, Rouleau GA, Cossette P. A novel locus for idiopathic generalized epilepsy in French-Canadian families maps to 10p11. American Journal of Medical Genetics. Part A. 146: 578-84. PMID 18241056 DOI: 10.1002/Ajmg.A.32139  0.365
2008 Mamdani F, Alda M, Grof P, Young LT, Rouleau G, Turecki G. Lithium response and genetic variation in the CREB family of genes. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 147: 500-4. PMID 18189280 DOI: 10.1002/Ajmg.B.30617  0.817
2008 Valdmanis PN, Kabashi E, Dion PA, Rouleau GA. ALS predisposition modifiers: knock NOX, who's there? SOD1 mice still are. European Journal of Human Genetics : Ejhg. 16: 140-2. PMID 18043718 DOI: 10.1038/Sj.Ejhg.5201961  0.305
2008 Xiong L, Levchenko A, Montplaisir J, Rivière JB, Thibodeau P, St-Onge J, Gaspar C, Desautels A, Lespérance P, Chouinard S, Turecki G, Rouleau GA. Genetic association studies of neurotensin gene and restless legs syndrome in French Canadians. Sleep Medicine. 9: 273-82. PMID 17644423 DOI: 10.1016/J.Sleep.2007.03.020  0.742
2007 Martins S, Calafell F, Gaspar C, Wong VC, Silveira I, Nicholson GA, Brunt ER, Tranebjaerg L, Stevanin G, Hsieh M, Soong BW, Loureiro L, Dürr A, Tsuji S, Watanabe M, ... ... Rouleau GA, et al. Asian origin for the worldwide-spread mutational event in Machado-Joseph disease. Archives of Neurology. 64: 1502-8. PMID 17923634 DOI: 10.1001/Archneur.64.10.1502  0.355
2007 Martin I, Gauthier J, D'Amelio M, Védrine S, Vourc'h P, Rouleau GA, Persico AM, Andres CR. Transmission disequilibrium study of an oligodendrocyte and myelin glycoprotein gene allele in 431 families with an autistic proband. Neuroscience Research. 59: 426-30. PMID 17897745 DOI: 10.1016/J.Neures.2007.08.009  0.388
2007 Salin-Cantegrel A, Rivière JB, Dupré N, Charron FM, Shekarabi M, Karéméra L, Gaspar C, Horst J, Tekin M, Deda G, Krause A, Lippert MM, Willemsen MA, Jarrar R, Lapointe JY, ... Rouleau GA, et al. Distal truncation of KCC3 in non-French Canadian HMSN/ACC families. Neurology. 69: 1350-5. PMID 17893295 DOI: 10.1212/01.Wnl.0000291779.35643.15  0.354
2007 Dupré N, Rivière JB, Myers RH, Provencher P, Pourcher E, Emond F, Rouleau GA. LRRK2 is not a significant cause of Parkinson's disease in French-Canadians. The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques. 34: 333-5. PMID 17803032 DOI: 10.1017/S0317167100006776  0.345
2007 Francks C, Maegawa S, Laurén J, Abrahams BS, Velayos-Baeza A, Medland SE, Colella S, Groszer M, McAuley EZ, Caffrey TM, Timmusk T, Pruunsild P, Koppel I, Lind PA, Matsumoto-Itaba N, ... ... Rouleau GA, et al. LRRTM1 on chromosome 2p12 is a maternally suppressed gene that is associated paternally with handedness and schizophrenia. Molecular Psychiatry. 12: 1129-39, 1057. PMID 17667961 DOI: 10.1038/Sj.Mp.4002053  0.391
2007 Winkelmann J, Schormair B, Lichtner P, Ripke S, Xiong L, Jalilzadeh S, Fulda S, Pütz B, Eckstein G, Hauk S, Trenkwalder C, Zimprich A, Stiasny-Kolster K, Oertel W, Bachmann CG, ... ... Rouleau G, et al. Genome-wide association study of restless legs syndrome identifies common variants in three genomic regions. Nature Genetics. 39: 1000-6. PMID 17637780 DOI: 10.1038/Ng2099  0.579
2007 Meijer IA, Dupré N, Brais B, Cossette P, St-Onge J, Rioux MF, Benard M, Rouleau GA. SPG4 founder effect in French Canadians with hereditary spastic paraplegia. The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques. 34: 211-4. PMID 17598600 DOI: 10.1017/S0317167100006065  0.59
2007 Ahmad S, Dahllund L, Eriksson AB, Hellgren D, Karlsson U, Lund PE, Meijer IA, Meury L, Mills T, Moody A, Morinville A, Morten J, O'donnell D, Raynoschek C, Salter H, ... Rouleau GA, et al. A stop codon mutation in SCN9A causes lack of pain sensation. Human Molecular Genetics. 16: 2114-21. PMID 17597096 DOI: 10.1093/Hmg/Ddm160  0.314
2007 Zouk H, McGirr A, Lebel V, Benkelfat C, Rouleau G, Turecki G. The effect of genetic variation of the serotonin 1B receptor gene on impulsive aggressive behavior and suicide. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 144: 996-1002. PMID 17510950 DOI: 10.1002/Ajmg.B.30521  0.692
2007 Xiong L, Dion P, Montplaisir J, Levchenko A, Thibodeau P, Karemera L, Rivière JB, St-Onge J, Gaspar C, Dubé MP, Desautels A, Turecki G, Rouleau GA. Molecular genetic studies of DMT1 on 12q in French-Canadian restless legs syndrome patients and families. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 144: 911-7. PMID 17510944 DOI: 10.1002/Ajmg.B.30528  0.725
2007 Dupré N, Gros-Louis F, Chrestian N, Verreault S, Brunet D, de Verteuil D, Brais B, Bouchard JP, Rouleau GA. Clinical and genetic study of autosomal recessive cerebellar ataxia type 1. Annals of Neurology. 62: 93-8. PMID 17503513 DOI: 10.1002/Ana.21143  0.608
2007 Xiong L, Jang K, Montplaisir J, Levchenko A, Thibodeau P, Gaspar C, Turecki G, Rouleau GA. Canadian restless legs syndrome twin study. Neurology. 68: 1631-3. PMID 17485653 DOI: 10.1212/01.Wnl.0000261016.90374.Fd  0.492
2007 Meijer IA, Dion P, Laurent S, Dupré N, Brais B, Levert A, Puymirat J, Rioux MF, Sylvain M, Zhu PP, Soderblom C, Stadler J, Blackstone C, Rouleau GA. Characterization of a novel SPG3A deletion in a French-Canadian family. Annals of Neurology. 61: 599-603. PMID 17427918 DOI: 10.1002/Ana.21114  0.625
2007 Messaed C, Dion PA, Abu-Baker A, Rochefort D, Laganiere J, Brais B, Rouleau GA. Soluble expanded PABPN1 promotes cell death in oculopharyngeal muscular dystrophy. Neurobiology of Disease. 26: 546-57. PMID 17418585 DOI: 10.1016/J.Nbd.2007.02.004  0.561
2007 Sequeira A, Klempan T, Canetti L, ffrench-Mullen J, Benkelfat C, Rouleau GA, Turecki G. Patterns of gene expression in the limbic system of suicides with and without major depression. Molecular Psychiatry. 12: 640-55. PMID 17353912 DOI: 10.1038/Sj.Mp.4001969  0.723
2007 Beetz C, Zuchner S, Ashley-Koch A, Auer-Grumbach M, Byrne P, Chinnery PF, Hutchinson M, McDermott CJ, Meijer IA, Nygren AO, Pericak-Vance M, Pyle A, Rouleau GA, Schickel J, Shaw PJ, et al. Linkage to a known gene but no mutation identified: comprehensive reanalysis of SPG4 HSP pedigrees reveals large deletions as the sole cause. Human Mutation. 28: 739-40. PMID 17345589 DOI: 10.1002/Humu.20508  0.379
2007 Mamdani F, Sequeira A, Alda M, Grof P, Rouleau G, Turecki G. No association between the PREP gene and lithium responsive bipolar disorder. Bmc Psychiatry. 7: 9. PMID 17324276 DOI: 10.1186/1471-244X-7-9  0.818
2007 Pauls D, Cath D, Heutink P, Grados M, Singer HS, Walkup JT, Illmann C, Scharf JM, Santangelo S, Stewart SE, Platko J, Pauls DL, Cox NJ, Robertson MM, Service S, ... ... Rouleau GA, et al. Genome scan for tourette disorder in affected-sibling-pair and multigenerational families American Journal of Human Genetics. 80: 265-272. PMID 17304708 DOI: 10.1086/511052  0.393
2007 Valdmanis PN, Dupre N, Bouchard JP, Camu W, Salachas F, Meininger V, Strong M, Rouleau GA. Three families with amyotrophic lateral sclerosis and frontotemporal dementia with evidence of linkage to chromosome 9p. Archives of Neurology. 64: 240-5. PMID 17296840 DOI: 10.1001/Archneur.64.2.240  0.335
2007 Lopez de Lara C, Brezo J, Rouleau G, Lesage A, Dumont M, Alda M, Benkelfat C, Turecki G. Effect of tryptophan hydroxylase-2 gene variants on suicide risk in major depression. Biological Psychiatry. 62: 72-80. PMID 17217922 DOI: 10.1016/J.Biopsych.2006.09.008  0.8
2007 Felbor U, Gaetzner S, Verlaan DJ, Vijzelaar R, Rouleau GA, Siegel AM. Large germline deletions and duplication in isolated cerebral cavernous malformation patients. Neurogenetics. 8: 149-53. PMID 17211633 DOI: 10.1007/S10048-006-0076-7  0.35
2007 Valdmanis PN, Meijer IA, Reynolds A, Lei A, MacLeod P, Schlesinger D, Zatz M, Reid E, Dion PA, Drapeau P, Rouleau GA. Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia. American Journal of Human Genetics. 80: 152-61. PMID 17160902 DOI: 10.1086/510782  0.373
2007 Gros-Louis F, Dupré N, Dion P, Fox MA, Laurent S, Verreault S, Sanes JR, Bouchard JP, Rouleau GA. Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia. Nature Genetics. 39: 80-5. PMID 17159980 DOI: 10.1038/Ng1927  0.39
2007 Brinkmann RR, Dubé M, Rouleau GA, Orr AC, Samuels ME. Loss-of-function genetic diseases and the concept of pharmaceutical targets Nature Reviews Genetics. 8: 404-404. DOI: 10.1038/Nrg1828-C2  0.543
2007 Bouchard JP, Brais B, Dupré N, Rouleau GA. Chapter 9 Hereditary Ataxias and Spastic Parapareses in Northeastern Canada Blue Books of Neurology. 31: 222-243. DOI: 10.1016/S1877-184X(09)70083-8  0.502
2007 Dupre N, Gros-Louis F, Chrestian N, Verteuil Dd, Brais B, Bouchard J, Rouleau G. G.P.18.08 Clinical and genetic study of autosomal recessive cerebellar ataxia type 1 Neuromuscular Disorders. 17: 892. DOI: 10.1016/J.Nmd.2007.06.435  0.568
2006 Molinaro G, Duan QL, Chagnon M, Moreau ME, Simon P, Clavel P, Lavaud S, Boileau G, Rouleau GA, Lepage Y, Adam A, Chanard J. Kinin-dependent hypersensitivity reactions in hemodialysis: metabolic and genetic factors. Kidney International. 70: 1823-31. PMID 17003818 DOI: 10.1038/Sj.Ki.5001873  0.306
2006 Levchenko A, Provost S, Montplaisir JY, Xiong L, St-Onge J, Thibodeau P, Rivière JB, Desautels A, Turecki G, Dubé MP, Rouleau GA. A novel autosomal dominant restless legs syndrome locus maps to chromosome 20p13. Neurology. 67: 900-1. PMID 16966564 DOI: 10.1212/01.Wnl.0000233991.20410.B6  0.673
2006 Marie-Josée Sasseville A, Caron AW, Bourget L, Klein AF, Dicaire MJ, Rouleau GA, Massie B, Langelier Y, Brais B. The dynamism of PABPN1 nuclear inclusions during the cell cycle. Neurobiology of Disease. 23: 621-9. PMID 16860991 DOI: 10.1016/J.Nbd.2006.05.015  0.534
2006 Sengupta S, Xiong L, Fathalli F, Benkelfat C, Tabbane K, Danics Z, Labelle A, Lal S, Krebs MO, Rouleau G, Joober R. Association study of the trinucleotide repeat polymorphism within SMARCA2 and schizophrenia. Bmc Genetics. 7: 34. PMID 16749937 DOI: 10.1186/1471-2156-7-34  0.37
2006 Dupré N, Bouchard JP, Brais B, Rouleau GA. Hereditary ataxia, spastic paraparesis and neuropathy in the French-Canadian population. The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques. 33: 149-57. PMID 16736723 DOI: 10.1017/S031716710000490X  0.613
2006 Thiffault I, Rioux MF, Tetreault M, Jarry J, Loiselle L, Poirier J, Gros-Louis F, Mathieu J, Vanasse M, Rouleau GA, Bouchard JP, Lesage J, Brais B. A new autosomal recessive spastic ataxia associated with frequent white matter changes maps to 2q33-34. Brain : a Journal of Neurology. 129: 2332-40. PMID 16672289 DOI: 10.1093/Brain/Awl110  0.736
2006 McCaffery JM, Frasure-Smith N, Dubé MP, Théroux P, Rouleau GA, Duan Q, Lespérance F. Common genetic vulnerability to depressive symptoms and coronary artery disease: a review and development of candidate genes related to inflammation and serotonin. Psychosomatic Medicine. 68: 187-200. PMID 16554382 DOI: 10.1097/01.Psy.0000208630.79271.A0  0.301
2006 Brinkman RR, Dubé MP, Rouleau GA, Orr AC, Samuels ME. Human monogenic disorders - a source of novel drug targets. Nature Reviews. Genetics. 7: 249-60. PMID 16534513 DOI: 10.1038/Nrg1828  0.539
2006 Sequeira A, Gwadry FG, Ffrench-Mullen JM, Canetti L, Gingras Y, Casero RA, Rouleau G, Benkelfat C, Turecki G. Implication of SSAT by gene expression and genetic variation in suicide and major depression. Archives of General Psychiatry. 63: 35-48. PMID 16389195 DOI: 10.1001/Archpsyc.63.1.35  0.733
2006 Lopez de Lara C, Dumais A, Rouleau G, Lesage A, Dumont M, Chawky N, Alda M, Benkelfat C, Turecki G. STin2 variant and family history of suicide as significant predictors of suicide completion in major depression. Biological Psychiatry. 59: 114-20. PMID 16125146 DOI: 10.1016/J.Biopsych.2005.06.021  0.762
2006 Alexander C, Laberge A, Rouleau G, Mathieu J, Bouchard J, Brais B. G.P.9 03 Clinical variables to assess phenotype severity in (GCG)9 OPMD cases Neuromuscular Disorders. 16: 711. DOI: 10.1016/J.Nmd.2006.05.217  0.54
2006 Klein A, Ebihara M, Dicaire M, Abu-Baker A, Rouleau G, Brais B. G.P.9 02 Long expansion and deletion of the polyalanine domain in PABPN1 lead to a modified aggregation pattern Neuromuscular Disorders. 16: 711. DOI: 10.1016/J.Nmd.2006.05.216  0.521
2005 Buckley PG, Mantripragada KK, Díaz de StÃ¥hl T, Piotrowski A, Hansson CM, Kiss H, Vetrie D, Ernberg IT, Nordenskjöld M, Bolund L, Sainio M, Rouleau GA, Niimura M, Wallace AJ, Evans DG, et al. Identification of genetic aberrations on chromosome 22 outside the NF2 locus in schwannomatosis and neurofibromatosis type 2. Human Mutation. 26: 540-9. PMID 16287142 DOI: 10.1002/Humu.20255  0.388
2005 Dumais A, Lesage AD, Alda M, Rouleau G, Dumont M, Chawky N, Roy M, Mann JJ, Benkelfat C, Turecki G. Risk factors for suicide completion in major depression: a case-control study of impulsive and aggressive behaviors in men. The American Journal of Psychiatry. 162: 2116-24. PMID 16263852 DOI: 10.1176/Appi.Ajp.162.11.2116  0.753
2005 Gauthier J, de Amorim G, Mnatzakanian GN, Saunders C, Vincent JB, Toupin S, Kauffman D, St-Onge J, Laurent S, Macleod PM, Minassian BA, Rouleau GA. Clinical stringency greatly improves mutation detection in Rett syndrome. The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques. 32: 321-6. PMID 16225173 DOI: 10.1017/S0317167100004200  0.353
2005 Duan QL, Nikpoor B, Dube MP, Molinaro G, Meijer IA, Dion P, Rochefort D, Saint-Onge J, Flury L, Brown NJ, Gainer JV, Rouleau JL, Agostoni A, Cugno M, Simon P, ... ... Rouleau GA, et al. A variant in XPNPEP2 is associated with angioedema induced by angiotensin I-converting enzyme inhibitors. American Journal of Human Genetics. 77: 617-26. PMID 16175507 DOI: 10.1086/496899  0.602
2005 Díaz-Anzaldúa A, Rivière JB, Dubé MP, Joober R, Saint-Onge J, Dion Y, Lespérance P, Richer F, Chouinard S, Rouleau GA. Chromosome 11-q24 region in Tourette syndrome: association and linkage disequilibrium study in the French Canadian population. American Journal of Medical Genetics. Part A. 138: 225-8. PMID 16158425 DOI: 10.1002/Ajmg.A.30928  0.37
2005 Nikpoor B, Duan QL, Rouleau GA. Acute adverse reactions associated with angiotensin-converting enzyme inhibitors: genetic factors and therapeutic implications. Expert Opinion On Pharmacotherapy. 6: 1851-6. PMID 16144506 DOI: 10.1517/14656566.6.11.1851  0.312
2005 Abu-Baker A, Laganiere S, Fan X, Laganiere J, Brais B, Rouleau GA. Cytoplasmic targeting of mutant poly(A)-binding protein nuclear 1 suppresses protein aggregation and toxicity in oculopharyngeal muscular dystrophy. Traffic (Copenhagen, Denmark). 6: 766-79. PMID 16101680 DOI: 10.1111/J.1600-0854.2005.00315.X  0.639
2005 Meyer J, Johannssen K, Freitag CM, Schraut K, Teuber I, Hahner A, Mainhardt C, Mössner R, Volz HP, Wienker TF, McKeane D, Stephan DA, Rouleau G, Reif A, Lesch KP. Rare variants of the gene encoding the potassium chloride co-transporter 3 are associated with bipolar disorder. The International Journal of Neuropsychopharmacology / Official Scientific Journal of the Collegium Internationale Neuropsychopharmacologicum (Cinp). 8: 495-504. PMID 16098236 DOI: 10.1017/S1461145705005821  0.435
2005 Toulouse A, Au-Yeung F, Gaspar C, Roussel J, Dion P, Rouleau GA. Ribosomal frameshifting on MJD-1 transcripts with long CAG tracts. Human Molecular Genetics. 14: 2649-60. PMID 16087686 DOI: 10.1093/Hmg/Ddi299  0.346
2005 Millecamps S, Gentil BJ, Gros-Louis F, Rouleau G, Julien JP. Alsin is partially associated with centrosome in human cells. Biochimica Et Biophysica Acta. 1745: 84-100. PMID 16085057 DOI: 10.1016/J.Bbamcr.2004.12.008  0.35
2005 Turnbull J, Lohi H, Kearney JA, Rouleau GA, Delgado-Escueta AV, Meisler MH, Cossette P, Minassian BA. Sacred disease secrets revealed: the genetics of human epilepsy. Human Molecular Genetics. 14: 2491-500. PMID 16049035 DOI: 10.1093/Hmg/Ddi250  0.337
2005 Joober R, Rouleau GA, Lal S, Bloom D, Lalonde P, Labelle A, Benkelfat C. Increased prevalence of schizophrenia spectrum disorders in relatives of neuroleptic-nonresponsive schizophrenic patients. Schizophrenia Research. 77: 35-41. PMID 16005383 DOI: 10.1016/J.Schres.2005.01.008  0.33
2005 Baser ME, Kuramoto L, Woods R, Joe H, Friedman JM, Wallace AJ, Ramsden RT, Olschwang S, Bijlsma E, Kalamarides M, Papi L, Kato R, Carroll J, Lázaro C, Joncourt F, ... ... Rouleau GA, et al. The location of constitutional neurofibromatosis 2 (NF2) splice site mutations is associated with the severity of NF2. Journal of Medical Genetics. 42: 540-6. PMID 15994874 DOI: 10.1136/Jmg.2004.029504  0.316
2005 Alda M, Grof P, Rouleau GA, Turecki G, Young LT. Investigating responders to lithium prophylaxis as a strategy for mapping susceptibility genes for bipolar disorder. Progress in Neuro-Psychopharmacology & Biological Psychiatry. 29: 1038-45. PMID 15946781 DOI: 10.1016/J.Pnpbp.2005.03.021  0.726
2005 Roddier K, Thomas T, Marleau G, Gagnon AM, Dicaire MJ, St-Denis A, Gosselin I, Sarrazin AM, Larbrisseau A, Lambert M, Vanasse M, Gaudet D, Rouleau GA, Brais B. Two mutations in the HSN2 gene explain the high prevalence of HSAN2 in French Canadians. Neurology. 64: 1762-7. PMID 15911806 DOI: 10.1212/01.Wnl.0000161849.29944.43  0.621
2005 Desautels A, Turecki G, Montplaisir J, Xiong L, Walters AS, Ehrenberg BL, Brisebois K, Desautels AK, Gingras Y, Johnson WG, Lugaresi E, Coccagna G, Picchietti DL, Lazzarini A, Rouleau GA. Restless legs syndrome: confirmation of linkage to chromosome 12q, genetic heterogeneity, and evidence of complexity. Archives of Neurology. 62: 591-6. PMID 15824258 DOI: 10.1001/Archneur.62.4.591  0.699
2005 Corbeil-Girard LP, Klein AF, Sasseville AM, Lavoie H, Dicaire MJ, Saint-Denis A, Pagé M, Duranceau A, Codère F, Bouchard JP, Karpati G, Rouleau GA, Massie B, Langelier Y, Brais B. PABPN1 overexpression leads to upregulation of genes encoding nuclear proteins that are sequestered in oculopharyngeal muscular dystrophy nuclear inclusions. Neurobiology of Disease. 18: 551-67. PMID 15755682 DOI: 10.1016/J.Nbd.2004.10.019  0.567
2005 Dion P, Shanmugam V, Gaspar C, Messaed C, Meijer I, Toulouse A, Laganiere J, Roussel J, Rochefort D, Laganiere S, Allen C, Karpati G, Bouchard JP, Brais B, Rouleau GA. Transgenic expression of an expanded (GCG)13 repeat PABPN1 leads to weakness and coordination defects in mice. Neurobiology of Disease. 18: 528-36. PMID 15755680 DOI: 10.1016/J.Nbd.2004.09.021  0.572
2005 Siegel AM, Bertalanffy H, Dichgans JJ, Elger CE, Hopf H, Hopf N, Keidel M, Kleider A, Nowak G, Pfeiffer RA, Schramm J, Spuck S, Stefan H, Sure U, Baumann CR, ... Rouleau GA, et al. [Familial cavernous malformations of the central nervous system. A clinical and genetic study of 15 German families]. Der Nervenarzt. 76: 175-80. PMID 15702360 DOI: 10.1007/S00115-004-1779-3  0.357
2005 Devon RS, Schwab C, Topp JD, Orban PC, Yang YZ, Pape TD, Helm JR, Davidson TL, Rogers DA, Gros-Louis F, Rouleau G, Horazdovsky BF, Leavitt BR, Hayden MR. Cross-species characterization of the ALS2 gene and analysis of its pattern of expression in development and adulthood. Neurobiology of Disease. 18: 243-57. PMID 15686953 DOI: 10.1016/J.Nbd.2004.10.002  0.331
2005 Gauthier J, Bonnel A, St-Onge J, Karemera L, Laurent S, Mottron L, Fombonne E, Joober R, Rouleau GA. NLGN3/NLGN4 gene mutations are not responsible for autism in the Quebec population. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 132: 74-5. PMID 15389766 DOI: 10.1002/Ajmg.B.30066  0.364
2004 Grewal KK, Stefanelli MG, Meijer IA, Hand CK, Rouleau GA, Ives EJ. A founder effect in three large Newfoundland families with a novel clinically variable spastic ataxia and supranuclear gaze palsy. American Journal of Medical Genetics. Part A. 131: 249-54. PMID 15523628 DOI: 10.1002/Ajmg.A.30397  0.37
2004 Rivière JB, Verlaan DJ, Shekarabi M, Lafrenière RG, Bénard M, Der Kaloustian VM, Shbaklo Z, Rouleau GA. A mutation in the HSN2 gene causes sensory neuropathy type II in a Lebanese family. Annals of Neurology. 56: 572-5. PMID 15455397 DOI: 10.1002/Ana.20237  0.348
2004 Meijer IA, Cossette P, Roussel J, Benard M, Toupin S, Rouleau GA. A novel locus for pure recessive hereditary spastic paraplegia maps to 10q22.1-10q24.1. Annals of Neurology. 56: 579-82. PMID 15455396 DOI: 10.1002/Ana.20239  0.373
2004 Levchenko A, Robitaille Y, Strong MJ, Rouleau GA. TAU mutations are not a predominant cause of frontotemporal dementia in Canadian patients. The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques. 31: 363-7. PMID 15376481 DOI: 10.1017/S0317167100003450  0.321
2004 Gros-Louis F, Larivière R, Gowing G, Laurent S, Camu W, Bouchard JP, Meininger V, Rouleau GA, Julien JP. A frameshift deletion in peripherin gene associated with amyotrophic lateral sclerosis. The Journal of Biological Chemistry. 279: 45951-6. PMID 15322088 DOI: 10.1074/Jbc.M408139200  0.395
2004 Levchenko A, Montplaisir JY, Dubé MP, Riviere JB, St-Onge J, Turecki G, Xiong L, Thibodeau P, Desautels A, Verlaan DJ, Rouleau GA. The 14q restless legs syndrome locus in the French Canadian population. Annals of Neurology. 55: 887-91. PMID 15174026 DOI: 10.1002/Ana.20140  0.697
2004 Díaz-Anzaldúa A, Joober R, Rivière JB, Dion Y, Lespérance P, Chouinard S, Richer F, Rouleau GA. Association between 7q31 markers and Tourette syndrome. American Journal of Medical Genetics. Part A. 127: 17-20. PMID 15103711 DOI: 10.1002/Ajmg.A.20631  0.39
2004 Díaz-Anzaldúa A, Joober R, Rivière JB, Dion Y, Lespérance P, Richer F, Chouinard S, Rouleau GA. Tourette syndrome and dopaminergic genes: a family-based association study in the French Canadian founder population. Molecular Psychiatry. 9: 272-7. PMID 15094788 DOI: 10.1038/Sj.Mp.4001411  0.342
2004 Lafreniere RG, MacDonald ML, Dube MP, MacFarlane J, O'Driscoll M, Brais B, Meilleur S, Brinkman RR, Dadivas O, Pape T, Platon C, Radomski C, Risler J, Thompson J, Guerra-Escobio AM, ... ... Rouleau GA, et al. Identification of a novel gene (HSN2) causing hereditary sensory and autonomic neuropathy type II through the Study of Canadian Genetic Isolates. American Journal of Human Genetics. 74: 1064-73. PMID 15060842 DOI: 10.1086/420795  0.737
2004 Desautels A, Turecki G, Xiong L, Rochefort D, Montplaisir J, Rouleau GA. Mutational analysis of neurotensin in familial restless legs syndrome. Movement Disorders : Official Journal of the Movement Disorder Society. 19: 90-4. PMID 14743366 DOI: 10.1002/Mds.10617  0.723
2004 Sun X, Young LT, Wang JF, Grof P, Turecki G, Rouleau GA, Alda M. Identification of lithium-regulated genes in cultured lymphoblasts of lithium responsive subjects with bipolar disorder. Neuropsychopharmacology : Official Publication of the American College of Neuropsychopharmacology. 29: 799-804. PMID 14735134 DOI: 10.1038/Sj.Npp.1300383  0.691
2003 Forget-Dubois N, Pérusse D, Turecki G, Girard A, Billette JM, Rouleau G, Boivin M, Malo J, Tremblay RE. Diagnosing zygosity in infant twins: physical similarity, genotyping, and chorionicity. Twin Research : the Official Journal of the International Society For Twin Studies. 6: 479-85. PMID 14965457 DOI: 10.1375/136905203322686464  0.43
2003 Desautels A, Turecki G, Montplaisir J, Brisebois K, Desautels AK, Adam B, Rouleau GA. Analysis of CAG repeat expansions in restless legs syndrome. Sleep. 26: 1055-7. PMID 14746390 DOI: 10.1093/Sleep/26.8.1055  0.699
2003 Hand CK, Devon RS, Gros-Louis F, Rochefort D, Khoris J, Meininger V, Bouchard JP, Camu W, Hayden MR, Rouleau GA. Mutation screening of the ALS2 gene in sporadic and familial amyotrophic lateral sclerosis. Archives of Neurology. 60: 1768-71. PMID 14676054 DOI: 10.1001/Archneur.60.12.1768  0.363
2003 Liquori CL, Berg MJ, Siegel AM, Huang E, Zawistowski JS, Stoffer T, Verlaan D, Balogun F, Hughes L, Leedom TP, Plummer NW, Cannella M, Maglione V, Squitieri F, Johnson EW, ... Rouleau GA, et al. Mutations in a gene encoding a novel protein containing a phosphotyrosine-binding domain cause type 2 cerebral cavernous malformations. American Journal of Human Genetics. 73: 1459-64. PMID 14624391 DOI: 10.1086/380314  0.329
2003 Lavoie H, Debeane F, Trinh QD, Turcotte JF, Corbeil-Girard LP, Dicaire MJ, Saint-Denis A, Pagé M, Rouleau GA, Brais B. Polymorphism, shared functions and convergent evolution of genes with sequences coding for polyalanine domains. Human Molecular Genetics. 12: 2967-79. PMID 14519685 DOI: 10.1093/Hmg/Ddg329  0.571
2003 Koenekoop RK, Loyer M, Hand CK, Al Mahdi H, Dembinska O, Beneish R, Racine J, Rouleau GA. Novel RPGR mutations with distinct retinitis pigmentosa phenotypes in French-Canadian families. American Journal of Ophthalmology. 136: 678-87. PMID 14516808 DOI: 10.1016/S0002-9394(03)00331-3  0.308
2003 Chan EM, Young EJ, Ianzano L, Munteanu I, Zhao X, Christopoulos CC, Avanzini G, Elia M, Ackerley CA, Jovic NJ, Bohlega S, Andermann E, Rouleau GA, Delgado-Escueta AV, Minassian BA, et al. Mutations in NHLRC1 cause progressive myoclonus epilepsy. Nature Genetics. 35: 125-7. PMID 12958597 DOI: 10.1038/Ng1238  0.334
2003 Fan X, Messaed C, Dion P, Laganiere J, Brais B, Karpati G, Rouleau GA. HnRNP A1 and A/B interaction with PABPN1 in oculopharyngeal muscular dystrophy. The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques. 30: 244-51. PMID 12945950 DOI: 10.1017/S0317167100002675  0.651
2003 Abu-Baker A, Messaed C, Laganiere J, Gaspar C, Brais B, Rouleau GA. Involvement of the ubiquitin-proteasome pathway and molecular chaperones in oculopharyngeal muscular dystrophy. Human Molecular Genetics. 12: 2609-23. PMID 12944420 DOI: 10.1093/Hmg/Ddg293  0.551
2003 Devon RS, Helm JR, Rouleau GA, Leitner Y, Lerman-Sagie T, Lev D, Hayden MR. The first nonsense mutation in alsin results in a homogeneous phenotype of infantile-onset ascending spastic paralysis with bulbar involvement in two siblings Clinical Genetics. 64: 210-215. PMID 12919135 DOI: 10.1034/J.1399-0004.2003.00138.X  0.336
2003 Laurans MS, DiLuna ML, Shin D, Niazi F, Voorhees JR, Nelson-Williams C, Johnson EW, Siegel AM, Steinberg GK, Berg MJ, Scott RM, Tedeschi G, Enevoldson TP, Anson J, Rouleau GA, et al. Mutational analysis of 206 families with cavernous malformations. Journal of Neurosurgery. 99: 38-43. PMID 12854741 DOI: 10.3171/Jns.2003.99.1.0038  0.366
2003 Dupré N, Howard HC, Mathieu J, Karpati G, Vanasse M, Bouchard JP, Carpenter S, Rouleau GA. Hereditary motor and sensory neuropathy with agenesis of the corpus callosum. Annals of Neurology. 54: 9-18. PMID 12838516 DOI: 10.1002/Ana.77777  0.588
2003 Toulouse A, Rochefort D, Roussel J, Joober R, Rouleau GA. Molecular cloning and characterization of human RAI1, a gene associated with schizophrenia. Genomics. 82: 162-71. PMID 12837267 DOI: 10.1016/S0888-7543(03)00101-0  0.388
2003 Howard HC, Dupré N, Mathieu J, Bouchard JP, Rouleau GA. [Severe neuropathy with agenesis of the corpus callosum]. MéDecine Sciences : M/S. 19: 414-6. PMID 12836214 DOI: 10.1051/Medsci/2003194414  0.531
2003 Segurado R, Detera-Wadleigh SD, Levinson DF, Lewis CM, Gill M, Nurnberger JI, Craddock N, DePaulo JR, Baron M, Gershon ES, Ekholm J, Cichon S, Turecki G, Claes S, Kelsoe JR, ... ... Rouleau GA, et al. Genome scan meta-analysis of schizophrenia and bipolar disorder, part III: Bipolar disorder. American Journal of Human Genetics. 73: 49-62. PMID 12802785 DOI: 10.1086/376547  0.692
2003 Dupré N, Verlaan DJ, Hand CK, Laurent SB, Turecki G, Davenport WJ, Acciarri N, Dichgans J, Ohkuma A, Siegel AM, Rouleau GA. Linkage to the CCM2 locus and genetic heterogeneity in familial cerebral cavernous malformation. The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques. 30: 122-8. PMID 12774951 DOI: 10.1017/S0317167100053385  0.532
2003 Sequeira A, Kim C, Seguin M, Lesage A, Chawky N, Desautels A, Tousignant M, Vanier C, Lipp O, Benkelfat C, Rouleau G, Turecki G. Wolfram syndrome and suicide: Evidence for a role of WFS1 in suicidal and impulsive behavior. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 119: 108-13. PMID 12707947 DOI: 10.1002/Ajmg.B.20011  0.791
2003 Szijan I, Rochefort D, Bruder C, Surace E, Machiavelli G, Dalamon V, Cotignola J, Ferreiro V, Campero A, Basso A, Dumanski JP, Rouleau GA. NF2 tumor suppressor gene: a comprehensive and efficient detection of somatic mutations by denaturing HPLC and microarray-CGH. Neuromolecular Medicine. 3: 41-52. PMID 12665675 DOI: 10.1385/Nmm:3:1:41  0.322
2003 Gauthier J, Joober R, Mottron L, Laurent S, Fuchs M, De Kimpe V, Rouleau GA. Mutation screening of FOXP2 in individuals diagnosed with autistic disorder. American Journal of Medical Genetics. Part A. 118: 172-5. PMID 12655497 DOI: 10.1002/Ajmg.A.10105  0.402
2003 Turecki G, Sequeira A, Gingras Y, Séguin M, Lesage A, Tousignant M, Chawky N, Vanier C, Lipp O, Benkelfat C, Rouleau GA. Suicide and serotonin: study of variation at seven serotonin receptor genes in suicide completers. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 118: 36-40. PMID 12627464 DOI: 10.1002/Ajmg.B.10006  0.727
2003 Fan X, Rouleau GA. Progress in understanding the pathogenesis of oculopharyngeal muscular dystrophy. The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques. 30: 8-14. PMID 12619777 DOI: 10.1017/S0317167100002365  0.553
2003 Yamamoto K, Cubells JF, Gelernter J, Benkelfat C, Lalonde P, Bloom D, Lal S, Labelle A, Turecki G, Rouleau GA, Joober R. Dopamine beta-hydroxylase (DBH) gene and schizophrenia phenotypic variability: a genetic association study. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 117: 33-8. PMID 12555232 DOI: 10.1002/Ajmg.B.10011  0.516
2003 Gros-Louis F, Meijer IA, Hand CK, Dubé MP, MacGregor DL, Seni MH, Devon RS, Hayden MR, Andermann F, Andermann E, Rouleau GA. An ALS2 gene mutation causes hereditary spastic paraplegia in a Pakistani kindred. Annals of Neurology. 53: 144-5. PMID 12509863 DOI: 10.1002/Ana.10422  0.343
2003 Howard HC, Dupré N, Mathieu J, Bouchard J, Rouleau GA. La neuropathie sensitivo-motrice héréditaire avec agénésie du corps calleux M S-Medecine Sciences. 19: 414-416. DOI: 10.7202/006492Ar  0.509
2003 Alda M, Grof P, Rouleau G, Turecki G, Young L. S.22.04 Neurobiology of treatment response in affective disorders European Neuropsychopharmacology. 13: S155. DOI: 10.1016/S0924-977X(03)91685-3  0.668
2002 Dobson-Stone C, Danek A, Rampoldi L, Hardie RJ, Chalmers RM, Wood NW, Bohlega S, Dotti MT, Federico A, Shizuka M, Tanaka M, Watanabe M, Ikeda Y, Brin M, Goldfarb LG, ... ... Rouleau GA, et al. Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis. European Journal of Human Genetics : Ejhg. 10: 773-81. PMID 12404112 DOI: 10.1038/Sj.Ejhg.5200866  0.37
2002 Zhao Y, Kumar RA, Baser ME, Evans DG, Wallace A, Kluwe L, Mautner VF, Parry DM, Rouleau GA, Joe H, Friedman JM. Intrafamilial correlation of clinical manifestations in neurofibromatosis 2 (NF2). Genetic Epidemiology. 23: 245-59. PMID 12384977 DOI: 10.1002/Gepi.10181  0.303
2002 Howard HC, Mount DB, Rochefort D, Byun N, Dupré N, Lu J, Fan X, Song L, Rivière JB, Prévost C, Horst J, Simonati A, Lemcke B, Welch R, England R, ... ... Rouleau GA, et al. The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum. Nature Genetics. 32: 384-92. PMID 12368912 DOI: 10.1038/Ng1002  0.694
2002 Desautels A, Turecki G, Montplaisir J, Brisebois K, Sequeira A, Adam B, Rouleau GA. Evidence for a genetic association between monoamine oxidase A and restless legs syndrome. Neurology. 59: 215-9. PMID 12136060 DOI: 10.1212/Wnl.59.2.215  0.813
2002 Howard HC, Dubé MP, Prévost C, Bouchard JP, Mathieu J, Rouleau GA. Fine mapping the candidate region for peripheral neuropathy with or without agenesis of the corpus callosum in the French Canadian population. European Journal of Human Genetics : Ejhg. 10: 406-12. PMID 12107814 DOI: 10.1038/Sj.Ejhg.5200815  0.704
2002 Joober R, Gauthier J, Lal S, Bloom D, Lalonde P, Rouleau G, Benkelfat C, Labelle A. Catechol-O-methyltransferase Val-108/158-Met gene variants associated with performance on the Wisconsin Card Sorting Test. Archives of General Psychiatry. 59: 662-3. PMID 12090821 DOI: 10.1001/Archpsyc.59.7.662  0.302
2002 Verlaan DJ, Siegel AM, Rouleau GA. Krit1 missense mutations lead to splicing errors in cerebral cavernous malformation American Journal of Human Genetics. 70: 1564-1567. PMID 11941540 DOI: 10.1086/340604  0.305
2002 Verlaan DJ, Davenport WJ, Stefan H, Sure U, Siegel AM, Rouleau GA. Cerebral cavernous malformations: mutations in Krit1. Neurology. 58: 853-7. PMID 11914398 DOI: 10.1212/Wnl.58.6.853  0.319
2002 Meijer IA, Hand CK, Cossette P, Figlewicz DA, Rouleau GA. Spectrum of SPG4 mutations in a large collection of North American families with hereditary spastic paraplegia. Archives of Neurology. 59: 281-6. PMID 11843700 DOI: 10.1001/Archneur.59.2.281  0.348
2002 Meijer IA, Hand CK, Grewal KK, Stefanelli MG, Ives EJ, Rouleau GA. A locus for autosomal dominant hereditary spastic ataxia, SAX1, maps to chromosome 12p13. American Journal of Human Genetics. 70: 763-9. PMID 11774073 DOI: 10.1086/338933  0.364
2002 Desautels A, Turecki G, Montplaisir J, Rouleau G. Reply to Kock et al. The American Journal of Human Genetics. 71: 208. DOI: 10.1086/341098  0.676
2001 Codère F, Brais B, Rouleau G, Lafontaine E. Oculopharyngeal muscular dystrophy: What's new? Orbit (Amsterdam, Netherlands). 20: 259-266. PMID 12045902 DOI: 10.1076/Orbi.20.4.259.2617  0.573
2001 Hand CK, Khoris J, Salachas F, Gros-Louis F, Lopes AA, Mayeux-Portas V, Brewer CG, Brown RH, Meininger V, Camu W, Rouleau GA. A novel locus for familial amyotrophic lateral sclerosis, on chromosome 18q. American Journal of Human Genetics. 70: 251-6. PMID 11706389 DOI: 10.1086/337945  0.394
2001 Desautels A, Turecki G, Montplaisir J, Sequeira A, Verner A, Rouleau GA. Identification of a major susceptibility locus for restless legs syndrome on chromosome 12q. American Journal of Human Genetics. 69: 1266-70. PMID 11704926 DOI: 10.1086/324649  0.807
2001 Fan X, Dion P, Laganiere J, Brais B, Rouleau GA. Oligomerization of polyalanine expanded PABPN1 facilitates nuclear protein aggregation that is associated with cell death. Human Molecular Genetics. 10: 2341-51. PMID 11689481 DOI: 10.1093/Hmg/10.21.2341  0.646
2001 Desautels A, Turecki G, Montplaisir J, Ftouhi-Paquin N, Michaud M, Chouinard VA, Rouleau GA. Dopaminergic neurotransmission and restless legs syndrome: a genetic association analysis. Neurology. 57: 1304-6. PMID 11591853 DOI: 10.1212/Wnl.57.7.1304  0.677
2001 Hadano S, Hand CK, Osuga H, Yanagisawa Y, Otomo A, Devon RS, Miyamoto N, Showguchi-Miyata J, Okada Y, Singaraja R, Figlewicz DA, Kwiatkowski T, Hosler BA, Sagie T, Skaug J, ... ... Rouleau GA, et al. A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. Nature Genetics. 29: 166-73. PMID 11586298 DOI: 10.1038/Ng1001-166  0.378
2001 Turecki G, Grof P, Grof E, D'Souza V, Lebuis L, Marineau C, Cavazzoni P, Duffy A, Bétard C, Zvolský P, Robertson C, Brewer C, Hudson TJ, Rouleau GA, Alda M. Mapping susceptibility genes for bipolar disorder: a pharmacogenetic approach based on excellent response to lithium. Molecular Psychiatry. 6: 570-8. PMID 11526471 DOI: 10.1038/Sj.Mp.4000888  0.696
2001 Nikpoor B, Turecki G, Fournier C, Théroux P, Rouleau GA. A functional myeloperoxidase polymorphic variant is associated with coronary artery disease in French-Canadians. American Heart Journal. 142: 336-9. PMID 11479475 DOI: 10.1067/Mhj.2001.116769  0.453
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