| Year |
Citation |
Score |
| 2020 |
Schaaf CP, Betancur C, Yuen RKC, Parr JR, Skuse DH, Gallagher L, Bernier RA, Buchanan JA, Buxbaum JD, Chen CA, Dies KA, Elsabbagh M, Firth HV, Frazier T, Hoang N, ... ... Michaud JL, et al. A framework for an evidence-based gene list relevant to autism spectrum disorder. Nature Reviews. Genetics. PMID 32317787 DOI: 10.1038/S41576-020-0231-2 |
0.314 |
|
| 2019 |
Beauregard-Lacroix E, Salian S, Kim H, Ehresmann S, DʹAmours G, Gauthier J, Saillour V, Bernard G, Mitchell GA, Soucy JF, Michaud JL, Campeau PM. A variant of neonatal progeroid syndrome, or Wiedemann-Rautenstrauch syndrome, is associated with a nonsense variant in POLR3GL. European Journal of Human Genetics : Ejhg. PMID 31695177 DOI: 10.1038/S41431-019-0539-6 |
0.388 |
|
| 2019 |
Szafranski P, Liu Q, Karolak JA, Song X, de Leeuw N, Faas B, Gerychova R, Janku P, Jezova M, Valaskova I, Gibbs KA, Surrey LF, Poisson V, Bérubé D, Oligny LL, ... Michaud JL, et al. Association of rare non-coding SNVs in the lung-specific FOXF1 enhancer with a mitigation of the lethal ACDMPV phenotype. Human Genetics. PMID 31686214 DOI: 10.1007/S00439-019-02073-X |
0.39 |
|
| 2019 |
Bell S, Rousseau J, Peng H, Aouabed Z, Priam P, Theroux JF, Jefri M, Tanti A, Wu H, Kolobova I, Silviera H, Manzano-Vargas K, Ehresmann S, Hamdan FF, Hettige N, ... ... Michaud JL, et al. Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons. American Journal of Human Genetics. PMID 31031012 DOI: 10.1016/J.Ajhg.2019.03.022 |
0.447 |
|
| 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 |
0.318 |
|
| 2018 |
Szafranski P, Kośmider E, Liu Q, Karolak JA, Currie L, Parkash S, Kahler SG, Roeder E, Littlejohn RO, DeNapoli TS, Shardonofsky FR, Henderson C, Powers G, Poisson V, Bérubé D, ... ... Michaud JL, et al. LINE- and Alu-containing genomic instability hotspotat 16q24.1 associated with recurrent and nonrecurrent CNV deletionscausative for ACDMPV. Human Mutation. PMID 30084155 DOI: 10.1002/Humu.23608 |
0.308 |
|
| 2018 |
D'Amours G, Lopes F, Gauthier J, Saillour V, Nassif C, Wynn R, Alos N, Leblanc T, Capri Y, Nizard S, Lemyre E, Michaud JL, Pelletier VA, Pastore YD, Soucy JF. Refining the phenotype associated with biallelic DNAJC21 mutations. Clinical Genetics. PMID 29700810 DOI: 10.1111/Cge.13370 |
0.396 |
|
| 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 |
0.326 |
|
| 2018 |
Jobling R, Stavropoulos DJ, Marshall CR, Cytrynbaum C, Axford MM, Londero V, Moalem S, Orr J, Rossignol F, Lopes FD, Gauthier J, Alos N, Rupps R, McKinnon M, Adam S, ... ... Michaud JL, et al. Chitayat-Hall and Schaaf-Yang syndromes: a common aetiology: expanding the phenotype of-related disorders. Journal of Medical Genetics. PMID 29599419 DOI: 10.1136/Jmedgenet-2017-105222 |
0.348 |
|
| 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, ... ... Michaud JL, et al. Recessive mutations in VPS13D cause childhood-onset movement disorders. Annals of Neurology. PMID 29518281 DOI: 10.1002/Ana.25204 |
0.354 |
|
| 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 |
0.465 |
|
| 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, ... ... Michaud JL, 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 |
0.414 |
|
| 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, ... ... Michaud JL, 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 |
0.433 |
|
| 2017 |
Raffa L, Matton MP, Michaud J, Rossignol E, Decarie JC, Ospina LH. Optic nerve hypoplasia in a patient with a de novo KIF1A heterozygous mutation. Canadian Journal of Ophthalmology. Journal Canadien D'Ophtalmologie. 52: e169-e171. PMID 28985824 DOI: 10.1016/J.Jcjo.2017.02.021 |
0.328 |
|
| 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 |
0.393 |
|
| 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, ... ... Michaud JL, et al. Functionally null RAD51D missense mutation associates strongly with ovarian carcinoma. Cancer Research. PMID 28646019 DOI: 10.1158/0008-5472.Can-17-0190 |
0.384 |
|
| 2017 |
Srour M, Shimokawa N, Hamdan FF, Nassif C, Poulin C, Al Gazali L, Rosenfeld JA, Koibuchi N, Rouleau GA, Al Shamsi A, Michaud JL. Dysfunction of the Cerebral Glucose Transporter SLC45A1 in Individuals with Intellectual Disability and Epilepsy. American Journal of Human Genetics. PMID 28434495 DOI: 10.1016/J.Ajhg.2017.03.009 |
0.326 |
|
| 2017 |
Lacaria M, Srour M, Michaud JL, Doja A, Miller E, Schwartzentruber J, Goldsmith C, Majewski J, Boycott KM. Expansion of the clinical phenotype of the distal 10q26.3 deletion syndrome to include ataxia and hyperemia of the hands and feet. American Journal of Medical Genetics. Part A. PMID 28432728 DOI: 10.1002/Ajmg.A.38231 |
0.355 |
|
| 2017 |
Bramswig NC, Lüdecke HJ, Hamdan FF, Altmüller J, Beleggia F, Elcioglu NH, Freyer C, Gerkes EH, Demirkol YK, Knupp KG, Kuechler A, Li Y, Lowenstein DH, Michaud JL, Park K, et al. Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability. Human Genetics. PMID 28393272 DOI: 10.1007/S00439-017-1795-6 |
0.4 |
|
| 2017 |
Rigoulot S, Knoth IS, Lafontaine MP, Vannasing P, Major P, Jacquemont S, Michaud JL, Jerbi K, Lippe S. Altered visual repetition suppression in Fragile X Syndrome: new evidence from ERPs and oscillatory activity. International Journal of Developmental Neuroscience : the Official Journal of the International Society For Developmental Neuroscience. PMID 28330777 DOI: 10.1016/J.Ijdevneu.2017.03.008 |
0.328 |
|
| 2017 |
Rivera B, Iorio MRD, Frankum J, Nadaf J, Fahiminiya S, Arcand SL, Burk D, Grapton D, Tomiak E, Hastings V, Hamel N, Wagener R, Aleynikova O, Giroux S, Hamdan FF, ... ... Michaud JL, et al. Abstract 2479: A functionally nullRAD51Dmissense mutation is strongly associated with ovarian carcinoma Cancer Research. 77: 2479-2479. DOI: 10.1158/1538-7445.Am2017-2479 |
0.352 |
|
| 2016 |
Al-Mehmadi S, Splitt M, Ramesh V, DeBrosse S, Dessoffy K, Xia F, Yang Y, Rosenfeld JA, Cossette P, Michaud JL, Hamdan FF, Campeau PM, Minassian BA. FHF1 (FGF12) epileptic encephalopathy. Neurology. Genetics. 2: e115. PMID 27830185 DOI: 10.1212/Nxg.0000000000000115 |
0.305 |
|
| 2016 |
Zahir FR, Tucker T, Mayo S, Brown CJ, Lim EL, Taylor J, Marra MA, Hamdan FF, Michaud JL, Friedman JM. Intragenic CNVs for epigenetic regulatory genes in intellectual disability: Survey identifies pathogenic and benign single exon changes. American Journal of Medical Genetics. Part A. 170: 2916-2926. PMID 27748065 DOI: 10.1002/Ajmg.A.37669 |
0.372 |
|
| 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 |
0.44 |
|
| 2016 |
Lemke JR, Geider K, Helbig KL, Heyne HO, Schütz H, Hentschel J, Courage C, Depienne C, Nava C, Heron D, Møller RS, Hjalgrim H, Lal D, Neubauer BA, Nürnberg P, ... ... Michaud JL, et al. Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy. Neurology. PMID 27164704 DOI: 10.1212/Wnl.0000000000002740 |
0.32 |
|
| 2016 |
Srour M, Caron V, Pearson T, Nielsen SB, Lévesque S, Delrue MA, Becker TA, Hamdan FF, Kibar Z, Sattler SG, Schneider MC, Bitoun P, Chassaing N, Rosenfeld JA, Xia F, ... ... Michaud JL, et al. Gain-Of-Function Mutations In RARB Cause Intellectual Disability With Progressive Motor Impairment. Human Mutation. PMID 27120018 DOI: 10.1002/Humu.23004 |
0.36 |
|
| 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 |
0.443 |
|
| 2015 |
Capo-Chichi JM, Mehawej C, Delague V, Caillaud C, Khneisser I, Hamdan FF, Michaud JL, Kibar Z, Mégarbané A. Neuroblastoma Amplified Sequence (NBAS) mutation in recurrent acute liver failure: Confirmatory report in a sibship with very early onset, osteoporosis and developmental delay. European Journal of Medical Genetics. PMID 26578240 DOI: 10.1016/J.Ejmg.2015.11.005 |
0.421 |
|
| 2015 |
Hamdan FF, Perrault I, 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, ... ... Michaud JL, et al. Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness. International Journal of Developmental Neuroscience : the Official Journal of the International Society For Developmental Neuroscience. 47: 119-20. PMID 26531641 DOI: 10.1016/J.Ijdevneu.2015.04.319 |
0.373 |
|
| 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, ... ... Michaud JL, 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 |
0.442 |
|
| 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, ... ... Michaud JL, 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 |
0.389 |
|
| 2015 |
Tetreault M, Fahiminiya S, Antonicka H, Mitchell GA, Geraghty MT, Lines M, Boycott KM, Shoubridge EA, Mitchell JJ, Michaud JL, Majewski J. Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome. Human Genetics. 134: 981-91. PMID 26099313 DOI: 10.1007/S00439-015-1577-Y |
0.433 |
|
| 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 |
0.364 |
|
| 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 |
0.442 |
|
| 2015 |
Lemay P, Guyot MC, Tremblay É, Dionne-Laporte A, Spiegelman D, Henrion É, Diallo O, De Marco P, Merello E, Massicotte C, Désilets V, Michaud JL, Rouleau GA, Capra V, Kibar Z. Loss-of-function de novo mutations play an important role in severe human neural tube defects. Journal of Medical Genetics. 52: 493-7. PMID 25805808 DOI: 10.1136/Jmedgenet-2015-103027 |
0.369 |
|
| 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, ... Michaud JL, 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 |
0.319 |
|
| 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, ... ... Michaud JL, 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 |
0.403 |
|
| 2014 |
D'Amours G, Langlois M, Mathonnet G, Fetni R, Nizard S, Srour M, Tihy F, Phillips MS, Michaud JL, Lemyre E. SNP arrays: comparing diagnostic yields for four platforms in children with developmental delay. Bmc Medical Genomics. 7: 70. PMID 25539807 DOI: 10.1186/S12920-014-0070-0 |
0.353 |
|
| 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 |
0.333 |
|
| 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, ... ... Michaud JL, et al. De novo mutations in moderate or severe intellectual disability. Plos Genetics. 10: e1004772. PMID 25356899 DOI: 10.1371/Journal.Pgen.1004772 |
0.46 |
|
| 2014 |
Schwartzentruber J, Buhas D, Majewski J, Sasarman F, Papillon-Cavanagh S, Thiffault I, Thiffaut I, Sheldon KM, Massicotte C, Patry L, Simon M, Zare AS, McKernan KJ, Michaud J, et al. Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndrome. Human Mutation. 35: 1285-9. PMID 25130867 DOI: 10.1002/Humu.22629 |
0.452 |
|
| 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, ... ... Michaud JL, 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 |
0.324 |
|
| 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 |
0.438 |
|
| 2014 |
Tucker T, Zahir FR, Griffith M, Delaney A, Chai D, Tsang E, Lemyre E, Dobrzeniecka S, Marra M, Eydoux P, Langlois S, Hamdan FF, Michaud JL, Friedman JM. Single exon-resolution targeted chromosomal microarray analysis of known and candidate intellectual disability genes. European Journal of Human Genetics : Ejhg. 22: 792-800. PMID 24253858 DOI: 10.1038/Ejhg.2013.248 |
0.37 |
|
| 2014 |
Amrom D, Tanyalçin I, Verhelst H, Deconinck N, Brouhard GJ, Décarie JC, Vanderhasselt T, Das S, Hamdan FF, Lissens W, Michaud JL, Jansen AC. Polymicrogyria with dysmorphic basal ganglia? Think tubulin! Clinical Genetics. 85: 178-83. PMID 23495813 DOI: 10.1111/Cge.12141 |
0.441 |
|
| 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, ... ... Michaud JL, 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 |
0.432 |
|
| 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, ... Michaud JL, 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 |
0.311 |
|
| 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, ... Michaud JL, 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 |
0.433 |
|
| 2013 |
Samuels ME, Majewski J, Alirezaie N, Fernandez I, Casals F, Patey N, Decaluwe H, Gosselin I, Haddad E, Hodgkinson A, Idaghdour Y, Marchand V, Michaud JL, Rodrigue MA, Desjardins S, et al. Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia. Journal of Medical Genetics. 50: 324-9. PMID 23423984 DOI: 10.1136/Jmedgenet-2012-101483 |
0.436 |
|
| 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, ... ... Michaud JL, 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 |
0.42 |
|
| 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 |
0.455 |
|
| 2013 |
Lynch DC, Dyment DA, Huang L, Nikkel SM, Lacombe D, Campeau PM, Lee B, Bacino CA, Michaud JL, Bernier FP, Parboosingh JS, Innes AM. Identification of novel mutations confirms PDE4D as a major gene causing acrodysostosis. Human Mutation. 34: 97-102. PMID 23033274 DOI: 10.1002/Humu.22222 |
0.441 |
|
| 2013 |
Hamdan FF, Daoud H, Patry L, Dionne-Laporte A, Spiegelman D, Dobrzeniecka S, Rouleau GA, Michaud JL. Parent-child exome sequencing identifies a de novo truncating mutation in TCF4 in non-syndromic intellectual disability. Clinical Genetics. 83: 198-200. PMID 22670824 DOI: 10.1111/J.1399-0004.2012.01890.X |
0.366 |
|
| 2013 |
Lynch DC, Dyment DA, Huang L, Nikkel SM, Lacombe D, Campeau PM, Lee B, Bacino CA, Michaud JL, Bernier FP, Parboosingh JS, Innes AM. Erratum to Identification of Novel Mutations Confirms PDE4D as a Major Gene Causing Acrodysostosis [Human Mutation, 34, 1 (97-102)] DOI 10.1002/humu.22222] Human Mutation. 34. DOI: 10.1002/Humu.22290 |
0.424 |
|
| 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, ... ... Michaud JL, 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 |
0.464 |
|
| 2012 |
Dufresne D, Hamdan FF, Rosenfeld JA, Torchia B, Rosenblatt B, Michaud JL, Srour M. Homozygous deletion of Tenascin-R in a patient with intellectual disability. Journal of Medical Genetics. 49: 451-4. PMID 22730557 DOI: 10.1136/Jmedgenet-2012-100831 |
0.365 |
|
| 2012 |
Sato D, Lionel AC, Leblond CS, Prasad A, Pinto D, Walker S, O'Connor I, Russell C, Drmic IE, Hamdan FF, Michaud JL, Endris V, Roeth R, Delorme R, Huguet G, et al. SHANK1 Deletions in Males with Autism Spectrum Disorder. American Journal of Human Genetics. 90: 879-87. PMID 22503632 DOI: 10.1016/J.Ajhg.2012.03.017 |
0.307 |
|
| 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, ... ... Michaud JL, 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 |
0.425 |
|
| 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 |
0.44 |
|
| 2011 |
Tarabeux J, Kebir O, Gauthier J, Hamdan FF, Xiong L, Piton A, Spiegelman D, Henrion É, Millet B, Fathalli F, Joober R, Rapoport JL, DeLisi LE, Fombonne É, ... ... Michaud JL, et al. Rare mutations in N-methyl-D-aspartate glutamate receptors in autism spectrum disorders and schizophrenia. Translational Psychiatry. 1: e55. PMID 22833210 DOI: 10.1038/tp.2011.52 |
0.322 |
|
| 2011 |
McCauley J, Masand N, McGowan R, Rajagopalan S, Hunter A, Michaud JL, Gibson K, Robertson J, Vaz F, Abbs S, Holden ST. X-linked VACTERL with hydrocephalus syndrome: further delineation of the phenotype caused by FANCB mutations. American Journal of Medical Genetics. Part A. 155: 2370-80. PMID 21910217 DOI: 10.1002/Ajmg.A.33913 |
0.429 |
|
| 2011 |
Majewski J, Schwartzentruber JA, Caqueret A, Patry L, Marcadier J, Fryns JP, Boycott KM, Ste-Marie LG, McKiernan FE, Marik I, Van Esch H, Michaud JL, Samuels ME. Mutations in NOTCH2 in families with Hajdu-Cheney syndrome. Human Mutation. 32: 1114-7. PMID 21681853 DOI: 10.1002/Humu.21546 |
0.457 |
|
| 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, ... ... Michaud JL, 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 |
0.424 |
|
| 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, ... ... Michaud JL, 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 |
0.458 |
|
| 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 |
0.44 |
|
| 2011 |
Guernsey DL, Matsuoka M, Jiang H, Evans S, Macgillivray C, Nightingale M, Perry S, Ferguson M, LeBlanc M, Paquette J, Patry L, Rideout AL, Thomas A, Orr A, McMaster CR, ... Michaud JL, et al. Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome. Nature Genetics. 43: 360-4. PMID 21358631 DOI: 10.1038/Ng.777 |
0.456 |
|
| 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, ... Michaud JL, 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 |
0.365 |
|
| 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, ... Michaud JL, 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 |
0.398 |
|
| 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, ... ... Michaud JL, 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 |
0.404 |
|
| 2010 |
Seyrantepe V, Lema P, Caqueret A, Dridi L, Bel Hadj S, Carpentier S, Boucher F, Levade T, Carmant L, Gravel RA, Hamel E, Vachon P, Di Cristo G, Michaud JL, Morales CR, et al. Mice doubly-deficient in lysosomal hexosaminidase A and neuraminidase 4 show epileptic crises and rapid neuronal loss. Plos Genetics. 6: e1001118. PMID 20862357 DOI: 10.1371/Journal.Pgen.1001118 |
0.317 |
|
| 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, ... ... Michaud JL, 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 |
0.418 |
|
| 2010 |
Guernsey DL, Jiang H, Hussin J, Arnold M, Bouyakdan K, Perry S, Babineau-Sturk T, Beis J, Dumas N, Evans SC, Ferguson M, Matsuoka M, Macgillivray C, Nightingale M, Patry L, ... ... Michaud JL, et al. Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4. American Journal of Human Genetics. 87: 40-51. PMID 20598275 DOI: 10.1016/J.Ajhg.2010.06.003 |
0.435 |
|
| 2010 |
Huber C, Fradin M, Edouard T, Le Merrer M, Alanay Y, Da Silva DB, David A, Hamamy H, van Hest L, Lund AM, Michaud J, Oley C, Patel C, Rajab A, Skidmore DL, et al. OBSL1 mutations in 3-M syndrome are associated with a modulation of IGFBP2 and IGFBP5 expression levels. Human Mutation. 31: 20-6. PMID 19877176 DOI: 10.1002/Humu.21150 |
0.42 |
|
| 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, ... ... Michaud JL, 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 |
0.393 |
|
| 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, 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 |
0.433 |
|
| 2006 |
Crow YJ, Hayward BE, Parmar R, Robins P, Leitch A, Ali M, Black DN, van Bokhoven H, Brunner HG, Hamel BC, Corry PC, Cowan FM, Frints SG, Klepper J, Livingston JH, ... ... Michaud JL, et al. Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus. Nature Genetics. 38: 917-20. PMID 16845398 DOI: 10.1038/Ng1845 |
0.39 |
|
| 2004 |
Senée V, Vattem KM, Delépine M, Rainbow LA, Haton C, Lecoq A, Shaw NJ, Robert JJ, Rooman R, Diatloff-Zito C, Michaud JL, Bin-Abbas B, Taha D, Zabel B, Franceschini P, et al. Wolcott-Rallison Syndrome: clinical, genetic, and functional study of EIF2AK3 mutations and suggestion of genetic heterogeneity. Diabetes. 53: 1876-83. PMID 15220213 DOI: 10.2337/Diabetes.53.7.1876 |
0.423 |
|
| 2004 |
Goshu E, Jin H, Lovejoy J, Marion JF, Michaud JL, Fan CM. Sim2 contributes to neuroendocrine hormone gene expression in the anterior hypothalamus. Molecular Endocrinology (Baltimore, Md.). 18: 1251-62. PMID 14988428 DOI: 10.1210/Me.2003-0372 |
0.302 |
|
| 2004 |
Yang C, Boucher F, Tremblay A, Michaud JL. Regulatory interaction between arylhydrocarbon receptor and SIM1, two basic helix-loop-helix PAS proteins involved in the control of food intake. The Journal of Biological Chemistry. 279: 9306-12. PMID 14660629 DOI: 10.1074/Jbc.M307927200 |
0.313 |
|
| 2002 |
Chagnon P, Michaud J, Mitchell G, Mercier J, Marion JF, Drouin E, Rasquin-Weber A, Hudson TJ, Richter A. A missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosis. American Journal of Human Genetics. 71: 1443-9. PMID 12417987 DOI: 10.1086/344580 |
0.383 |
|
| 2002 |
Goshu E, Jin H, Fasnacht R, Sepenski M, Michaud JL, Fan CM. Sim2 mutants have developmental defects not overlapping with those of Sim1 mutants. Molecular and Cellular Biology. 22: 4147-57. PMID 12024028 DOI: 10.1128/Mcb.22.12.4147-4157.2002 |
0.363 |
|
| 1999 |
Collin GB, Marshall JD, Boerkoel CF, Levin AV, Weksberg R, Greenberg J, Michaud JL, Naggert JK, Nishina PM. Alström syndrome: further evidence for linkage to human chromosome 2p13. Human Genetics. 105: 474-9. PMID 10598815 DOI: 10.1007/S004399900134 |
0.33 |
|
| 1998 |
Michaud JL, Rosenquist T, May NR, Fan CM. Development of neuroendocrine lineages requires the bHLH-PAS transcription factor SIM1. Genes & Development. 12: 3264-75. PMID 9784500 DOI: 10.1101/Gad.12.20.3264 |
0.319 |
|
| 1996 |
Michaud JL, Héon E, Guilbert F, Weill J, Puech B, Benson L, Smallhorn JF, Shuman CT, Buncic JR, Levin AV, Weksberg R, Brevière GM. Natural history of Alström syndrome in early childhood: onset with dilated cardiomyopathy. The Journal of Pediatrics. 128: 225-9. PMID 8636816 DOI: 10.1016/S0022-3476(96)70394-3 |
0.316 |
|
| 1995 |
Michaud J, Filiatrault D, Dallaire L, Lambert M. New autosomal recessive form of amelia. American Journal of Medical Genetics. 56: 164-167. PMID 7625439 DOI: 10.1002/Ajmg.1320560210 |
0.415 |
|
| 1992 |
Michaud J, Brody LC, Steel G, Fontaine G, Martin LS, Valle D, Mitchell G. Strand-separating conformational polymorphism analysis: Efficacy of detection of point mutations in the human ornithine δ-aminotransferase gene Genomics. 13: 389-394. PMID 1612597 DOI: 10.1016/0888-7543(92)90258-T |
0.394 |
|
| 1991 |
Martin LS, Mitchell GA, Michaud J, Brody LC, Valle D. A polymorphic synonymous mutation in human ornithine-δ-aminotransferase (N378N) Nucleic Acids Research. 19: 1962. PMID 2030983 DOI: 10.1093/Nar/19.8.1962 |
0.366 |
|
| Show low-probability matches. |