| Year |
Citation |
Score |
| 2023 |
Aguilar-Mahecha A, Alirezaie N, Lafleur J, Bareke E, Przybytkowski E, Lan C, Cavallone L, Salem M, Pelmus M, Aleynikova O, Greenwood C, Lovato A, Ferrario C, Boileau JF, Mihalcioiu C, ... ... Majewski J, et al. The Mutational Spectrum of Pre- and Post-Neoadjuvant Chemotherapy Triple-Negative Breast Cancers. Genes. 15. PMID 38254917 DOI: 10.3390/genes15010027 |
0.338 |
|
| 2022 |
Chen OJ, Castellsagué E, Moustafa-Kamal M, Nadaf J, Rivera B, Fahiminiya S, Wang Y, Gamache I, Pacifico C, Jiang L, Carrot-Zhang J, Witkowski L, Berghuis AM, Schoenberger S, Schneider D, ... ... Majewski J, et al. Germline Missense Variants in CDC20 Result in Aberrant Mitotic Progression and Familial Cancer. Cancer Research. PMID 35913887 DOI: 10.1158/0008-5472.CAN-21-3956 |
0.313 |
|
| 2021 |
Farhangdoost N, Horth C, Hu B, Bareke E, Chen X, Li Y, Coradin M, Garcia BA, Lu C, Majewski J. Chromatin dysregulation associated with NSD1 mutation in head and neck squamous cell carcinoma. Cell Reports. 34: 108769. PMID 33626351 DOI: 10.1016/j.celrep.2021.108769 |
0.333 |
|
| 2021 |
Rajagopalan KN, Chen X, Weinberg DN, Chen H, Majewski J, Allis CD, Lu C. Depletion of H3K36me2 recapitulates epigenomic and phenotypic changes induced by the H3.3K36M oncohistone mutation. Proceedings of the National Academy of Sciences of the United States of America. 118. PMID 33619101 DOI: 10.1073/pnas.2021795118 |
0.329 |
|
| 2021 |
Beauchamp MC, Djedid A, Bareke E, Merkuri F, Aber R, Tam AS, Lines MA, Boycott KM, Stirling PC, Fish JL, Majewski J, Jerome-Majewska LA. Mutation in Eftud2 causes craniofacial defects in mice via mis-splicing of Mdm2 and increased P53. Human Molecular Genetics. PMID 33601405 DOI: 10.1093/hmg/ddab051 |
0.326 |
|
| 2020 |
Harutyunyan AS, Chen H, Lu T, Horth C, Nikbakht H, Krug B, Russo C, Bareke E, Marchione DM, Coradin M, Garcia BA, Jabado N, Majewski J. H3K27M in Gliomas Causes a One-Step Decrease in H3K27 Methylation and Reduced Spreading within the Constraints of H3K36 Methylation. Cell Reports. 33: 108390. PMID 33207202 DOI: 10.1016/j.celrep.2020.108390 |
0.719 |
|
| 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 |
0.309 |
|
| 2020 |
Cavallone L, Aguilar-Mahecha A, Lafleur J, Brousse S, Aldamry M, Roseshter T, Lan C, Alirezaie N, Bareke E, Majewski J, Ferrario C, Hassan S, Discepola F, Seguin C, Mihalcioiu C, et al. Prognostic and predictive value of circulating tumor DNA during neoadjuvant chemotherapy for triple negative breast cancer. Scientific Reports. 10: 14704. PMID 32895401 DOI: 10.1038/S41598-020-71236-Y |
0.317 |
|
| 2020 |
Evans DR, Green JS, Fahiminiya S, Majewski J, Fernandez BA, Deardorff MA, Johnson GJ, Whelan JH, Hubmacher D, Apte SS, Woods MO. A novel pathogenic missense ADAMTS17 variant that impairs secretion causes Weill-Marchesani Syndrome with variably dysmorphic hand features. Scientific Reports. 10: 10827. PMID 32616716 DOI: 10.1038/S41598-020-66978-8 |
0.378 |
|
| 2020 |
Johnstone DL, Nguyen TTM, Zambonin J, Kernohan KD, St-Denis A, Baratang NV, Hartley T, Geraghty MT, Richer J, Majewski J, Bareke E, Guerin A, Pendziwiat M, Pena LDM, Braakman HMH, et al. Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of 7 new subjects and review of the literature. Journal of Inherited Metabolic Disease. PMID 32588908 DOI: 10.1002/Jimd.12278 |
0.358 |
|
| 2020 |
Nikbakht H, Jessa S, Sukhai MA, Arseneault M, Zhang T, Letourneau L, Thomas M, Bourgey M, Roehrl MHA, Eveleigh R, Chen EX, Krzyzanowska M, Moore MJ, Giesler A, Yu C, ... ... Majewski J, et al. Latency and interval therapy affect the evolution in metastatic colorectal cancer. Scientific Reports. 10: 581. PMID 31953485 DOI: 10.1038/S41598-020-57476-Y |
0.754 |
|
| 2020 |
Beauchamp M, Djedid A, Bareke E, Aber R, Majewski J, Majewska LJ. Mutation of Eftud2 in Mouse Neural Crest Cells Models MFDM and Reveals Contribution of P53 in Abnormal Craniofacial Development The Faseb Journal. 34: 1-1. DOI: 10.1096/Fasebj.2020.34.S1.03450 |
0.415 |
|
| 2019 |
Kennedy JM, Georges A, Bassenden AV, Vidal SM, Berghuis AM, Taniuchi I, Majewski J, Lathrop M, Behr MA, Langlais D, Gros P. ZBTB7B (ThPOK) IS REQUIRED FOR PATHOGENESIS OF CEREBRAL MALARIA AND PROTECTION AGAINST PULMONARY TUBERCULOSIS. Infection and Immunity. PMID 31792077 DOI: 10.1128/Iai.00845-19 |
0.378 |
|
| 2019 |
Weinberg DN, Papillon-Cavanagh S, Chen H, Yue Y, Chen X, Rajagopalan KN, Horth C, McGuire JT, Xu X, Nikbakht H, Lemiesz AE, Marchione DM, Marunde MR, Meiners MJ, Cheek MA, ... ... Majewski J, et al. The histone mark H3K36me2 recruits DNMT3A and shapes the intergenic DNA methylation landscape. Nature. PMID 31485078 DOI: 10.1038/S41586-019-1534-3 |
0.729 |
|
| 2019 |
Wong C, Chen F, Alirezaie N, Wang Y, Cuggia A, Borgida A, Holter S, Lenko T, Domecq C, Petersen GM, Syngal S, Brand R, Rustgi AK, Cote ML, ... ... Majewski J, et al. A region-based gene association study combined with a leave-one-out sensitivity analysis identifies SMG1 as a pancreatic cancer susceptibility gene. Plos Genetics. 15: e1008344. PMID 31469826 DOI: 10.1371/Journal.Pgen.1008344 |
0.364 |
|
| 2019 |
Beauchamp MC, Djedid A, Daupin K, Clokie K, Kumar S, Majewski J, Jerome-Majewska LA. Loss of function mutation of Eftud2, the gene responsible for mandibulofacial dysostosis with microcephaly (MFDM), leads to pre-implantation arrest in mouse. Plos One. 14: e0219280. PMID 31276534 DOI: 10.1371/Journal.Pone.0219280 |
0.388 |
|
| 2019 |
Wojcik JB, Marchione DM, Sidoli S, Djedid A, Lisby A, Majewski J, Garcia BA. Epigenomic reordering induced by Polycomb loss drives oncogenesis but leads to therapeutic vulnerabilities in malignant peripheral nerve sheath tumors. Cancer Research. PMID 30898839 DOI: 10.1158/0008-5472.Can-18-3704 |
0.336 |
|
| 2019 |
Harutyunyan AS, Krug B, Chen H, Papillon-Cavanagh S, Zeinieh M, De Jay N, Deshmukh S, Chen CCL, Belle J, Mikael LG, Marchione DM, Li R, Nikbakht H, Hu B, Cagnone G, ... ... Majewski J, et al. H3K27M induces defective chromatin spread of PRC2-mediated repressive H3K27me2/me3 and is essential for glioma tumorigenesis. Nature Communications. 10: 1262. PMID 30890717 DOI: 10.1038/S41467-019-09140-X |
0.75 |
|
| 2019 |
Johnstone DL, Al-Shekaili HH, Tarailo-Graovac M, Wolf NI, Ivy AS, Demarest S, Roussel Y, Ciapaite J, van Roermund CWT, Kernohan KD, Kosuta C, Ban K, Ito Y, McBride S, Al-Thihli K, ... ... Majewski J, et al. PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights. Brain : a Journal of Neurology. PMID 30668673 DOI: 10.1093/Brain/Awy346 |
0.346 |
|
| 2019 |
Takano T, Bareke E, Takeda N, Aoudjit L, Baldwin C, Pisano P, Matsuda J, El Andalousi J, Muhtadie L, Bernard C, Majewski J, Miyazaki T, Yamamura KI, Gupta IR. Recessive mutation in CD2AP causes focal segmental glomerulosclerosis in humans and mice. Kidney International. 95: 57-61. PMID 30612599 DOI: 10.1016/J.Kint.2018.08.014 |
0.45 |
|
| 2019 |
Gayden T, Dickson BC, Nikbakht H, Fiset P, Jay ND, Nadaf J, Burk DL, Berghuis A, Gladdy R, Wunder J, Turcotte R, Majewski J, Jabado N. Abstract 756: Whole exome sequencing identifies frequent mutations of PTPRB and KDR in secondary angiosarcoma Cancer Research. 79: 756-756. DOI: 10.1158/1538-7445.Sabcs18-756 |
0.784 |
|
| 2018 |
Accogli A, Guerrero K, D'Agostino MD, Tran L, Cieuta-Walti C, Thiffault I, Chénier S, Schwartzentruber J, Majewski J, Bernard G. Biallelic Loss-of-Function Variants in AIMP1 Cause a Rare Neurodegenerative Disease. Journal of Child Neurology. 883073818811223. PMID 30486714 DOI: 10.1177/0883073818811223 |
0.481 |
|
| 2018 |
Gayden T, Sepulveda FE, Khuong-Quang DA, Pratt J, Valera ET, Garrigue A, Kelso S, Sicheri F, Mikael LG, Hamel N, Bajic A, Dali R, Deshmukh S, Dervovic D, Schramek D, ... ... Majewski J, et al. Author Correction: Germline HAVCR2 mutations altering TIM-3 characterize subcutaneous panniculitis-like T cell lymphomas with hemophagocytic lymphohistiocytic syndrome. Nature Genetics. PMID 30429576 DOI: 10.1038/S41588-018-0304-8 |
0.734 |
|
| 2018 |
Gomes CC, Gayden T, Bajic A, Harraz OF, Pratt J, Nikbakht H, Bareke E, Diniz MG, Castro WH, St-Onge P, Sinnett D, Han H, Rivera B, Mikael LG, De Jay N, ... ... Majewski J, et al. TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw. Nature Communications. 9: 4572. PMID 30385747 DOI: 10.1038/S41467-018-06690-4 |
0.77 |
|
| 2018 |
Gayden T, Sepulveda FE, Khuong-Quang DA, Pratt J, Valera ET, Garrigue A, Kelso S, Sicheri F, Mikael LG, Hamel N, Bajic A, Dali R, Deshmukh S, Dervovic D, Schramek D, ... ... Majewski J, et al. Germline HAVCR2 mutations altering TIM-3 characterize subcutaneous panniculitis-like T cell lymphomas with hemophagocytic lymphohistiocytic syndrome. Nature Genetics. PMID 30374066 DOI: 10.1038/S41588-018-0251-4 |
0.76 |
|
| 2018 |
Castellsagué E, Li R, Aligue R, González S, Sanz J, Martin E, Velasco À, Capellá G, Stewart CJ, Vidal A, Majewski J, Rivera B, Polak P, Matias-Guiu X, Brunet J, et al. Novel POLE pathogenic germline variant in a family with multiple primary tumors results in distinct mutational signatures. Human Mutation. PMID 30362666 DOI: 10.1002/Humu.23676 |
0.49 |
|
| 2018 |
Alirezaie N, Kernohan KD, Hartley T, Majewski J, Hocking TD. ClinPred: Prediction Tool to Identify Disease-Relevant Nonsynonymous Single-Nucleotide Variants. American Journal of Human Genetics. 103: 474-483. PMID 30220433 DOI: 10.1016/J.Ajhg.2018.08.005 |
0.319 |
|
| 2018 |
Valera ET, McConechy MK, Gayden T, Rivera B, Jones DTW, Wittmann A, Han H, Bareke E, Nikbakht H, Mikael L, Queiroz RG, Suazo VK, Phi JH, Kim SK, Park SH, ... ... Majewski J, et al. Methylome analysis and whole-exome sequencing reveal that brain tumors associated with encephalocraniocutaneous lipomatosis are midline pilocytic astrocytomas. Acta Neuropathologica. PMID 30143858 DOI: 10.1007/S00401-018-1898-8 |
0.725 |
|
| 2018 |
Qian J, Nguyen NMP, Rezaei M, Huang B, Tao Y, Zhang X, Cheng Q, Yang H, Asangla A, Majewski J, Slim R. Biallelic PADI6 variants linking infertility, miscarriages, and hydatidiform moles. European Journal of Human Genetics : Ejhg. PMID 29693651 DOI: 10.1038/S41431-018-0141-3 |
0.374 |
|
| 2018 |
Smith AC, Ito Y, Ahmed A, Schwartzentruber JA, Beaulieu CL, Aberg E, Majewski J, Bulman DE, Horsting-Wethly K, Koning DV, Rodenburg RJ, Boycott KM, Penney LS. A family segregating lethal neonatal coenzyme Qdeficiency caused by mutations in COQ9. Journal of Inherited Metabolic Disease. PMID 29560582 DOI: 10.1007/S10545-017-0122-7 |
0.487 |
|
| 2018 |
Uusimaa J, Kaarteenaho R, Paakkola T, Tuominen H, Karjalainen MK, Nadaf J, Varilo T, Uusi-Mäkelä M, Suo-Palosaari M, Pietilä I, Hiltunen AE, Ruddock L, Alanen H, Biterova E, Miinalainen I, ... ... Majewski J, et al. NHLRC2 variants identified in patients with fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA): characterisation of a novel cerebropulmonary disease. Acta Neuropathologica. PMID 29423877 DOI: 10.1007/S00401-018-1817-Z |
0.348 |
|
| 2018 |
Guéant JL, Chéry C, Oussalah A, Nadaf J, Coelho D, Josse T, Flayac J, Robert A, Koscinski I, Gastin I, Filhine-Tresarrieu P, Pupavac M, Brebner A, Watkins D, Pastinen T, ... ... Majewski J, et al. APRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients. Nature Communications. 9: 67. PMID 29302025 DOI: 10.1038/S41467-017-02306-5 |
0.34 |
|
| 2018 |
Paakkola T, Vuopala K, Kokkonen H, Ignatius J, Valkama M, Moilanen JS, Fahiminiya S, Majewski J, Hinttala R, Uusimaa J. A homozygous I684T in GLE1 as a novel cause of arthrogryposis and motor neuron loss. Clinical Genetics. 93: 173-177. PMID 28657126 DOI: 10.1111/Cge.13086 |
0.464 |
|
| 2018 |
Khuong-Quang D, Gayden T, Sepulveda F, Pratt J, Valera E, Garrigue A, Kelso S, Sicheri F, Mikael L, Hamel N, Bajic A, Dali R, Dervovic D, Schramek D, Guerin F, ... ... Majewski J, et al. Germline TIM-3 Mutations Characterize Sub-Cutaneous Panniculitis T-Cell Lymphomas with Hemophagocytic Lymphohistiocytic Syndrome Blood. 132: 1569-1569. DOI: 10.1182/Blood-2018-99-120297 |
0.758 |
|
| 2018 |
Lu C, Jain S, Hoelper D, Bechet D, Ran L, Andrulis I, Dickson B, Majewski J, Thompson C, Chi P, Garcia B, Jabado N, Lewis P, Allis CD. Abstract PR12: Histone H3K36 mutations promote sarcomagenesis through altered histone methylation landscape Clinical Cancer Research. 24. DOI: 10.1158/1557-3265.Sarcomas17-Pr12 |
0.448 |
|
| 2018 |
Cavallone L, Adriana A, Aldamry M, Lafleur J, Cathy L, Alirezaie N, Bareke E, Majewski J, Ferrario C, Mihalciou C, Roy J, Markus E, Robidoux A, Pelmus M, Aleynikova O, et al. Abstract P2-02-02: Dynamics of ctDNA changes during neoadjuvant chemotherapy in triple-negative breast cancer patients Cancer Research. 78. DOI: 10.1158/1538-7445.Sabcs17-P2-02-02 |
0.334 |
|
| 2018 |
Harutyunyan AS, Krug B, Papillon-Cavanagh S, Chen H, Deshmukh S, Cheung WA, Li R, Belle J, Bechet D, Jay ND, Zeinieh M, Gayden T, Russo C, Mikael L, Faury D, ... ... Majewski J, et al. Abstract B44: Identification of epigenomic changes induced by H3 K27M mutation in glioblastoma using patient-derived and CRISPR/Cas9 edited cell lines Cancer Research. 78. DOI: 10.1158/1538-7445.Pedca17-B44 |
0.425 |
|
| 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 |
0.374 |
|
| 2017 |
Salloum R, McConechy MK, Mikael LG, Fuller C, Drissi R, DeWire M, Nikbakht H, De Jay N, Yang X, Boue D, Chow LML, Finlay JL, Gayden T, Karamchandani J, Hummel TR, ... ... Majewski J, et al. Characterizing temporal genomic heterogeneity in pediatric high-grade gliomas. Acta Neuropathologica Communications. 5: 78. PMID 29084603 DOI: 10.1186/S40478-017-0479-8 |
0.788 |
|
| 2017 |
Alcantara D, Elmslie F, Tetreault M, Bareke E, Hartley T, Majewski J, Boycott K, Innes AM, Dyment DA, O'Driscoll M. SHORT syndrome due to a novel de novo mutation in PRKCE (Protein Kinase Cɛ) impairing TORC2-dependent AKT activation. Human Molecular Genetics. 26: 3713-3721. PMID 28934384 DOI: 10.1093/Hmg/Ddx256 |
0.443 |
|
| 2017 |
Perrier S, Gauquelin L, Tétreault M, Tran L, Webb N, Srour M, Mitchell JJ, Brunel-Guitton C, Majewski J, Long V, Keller S, Gambello MJ, Simons C, Vanderver A, et al. Recessive Mutations in NDUFA2 Cause Mitochondrial Leukoencephalopathy. Clinical Genetics. PMID 28857146 DOI: 10.1111/Cge.13126 |
0.471 |
|
| 2017 |
Hartley T, Wagner JD, Warman-Chardon J, Tétreault M, Brady L, Baker S, Tarnopolsky M, Bourque PR, Parboosingh JS, Smith C, McInnes B, Innes AM, Bernier F, Curry CJ, Yoon G, ... ... Majewski J, et al. Whole-exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: outcomes from a cohort of 50 families. Clinical Genetics. PMID 28708278 DOI: 10.1111/Cge.13101 |
0.392 |
|
| 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, ... ... Majewski J, et al. Functionally null RAD51D missense mutation associates strongly with ovarian carcinoma. Cancer Research. PMID 28646019 DOI: 10.1158/0008-5472.Can-17-0190 |
0.443 |
|
| 2017 |
Kernohan KD, Grynspan D, Ramphal R, Bareke E, Wang YC, Nizalik E, Ragoussis J, Jabado N, Boycott KM, Majewski J, Sawyer SL. H3.1 K36M mutation in a congenital-onset soft tissue neoplasm. Pediatric Blood & Cancer. PMID 28509377 DOI: 10.1002/Pbc.26633 |
0.4 |
|
| 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 |
0.323 |
|
| 2017 |
Carrot-Zhang J, Majewski J. LoLoPicker: detecting low allelic-fraction variants from low-quality cancer samples. Oncotarget. 8: 37032-37040. PMID 28416765 DOI: 10.18632/Oncotarget.16144 |
0.353 |
|
| 2017 |
Morrissy AS, Cavalli FM, Remke M, Ramaswamy V, Shih DJ, Holgado BL, Farooq H, Donovan LK, Garzia L, Agnihotri S, Kiehna EN, Mercier E, Mayoh C, Papillon-Cavanagh S, Nikbakht H, ... ... Majewski J, et al. Spatial heterogeneity in medulloblastoma. Nature Genetics. PMID 28394352 DOI: 10.1038/Ng.3838 |
0.746 |
|
| 2017 |
Johnstone DL, Nguyen TT, Murakami Y, Kernohan KD, Tétreault M, Goldsmith C, Doja A, Wagner JD, Huang L, Hartley T, St-Denis A, le Deist F, Majewski J, Bulman DE, et al. Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy. Human Molecular Genetics. PMID 28334793 DOI: 10.1093/Hmg/Ddx077 |
0.45 |
|
| 2017 |
Evans DR, Green JS, Johnson GJ, Schwartzentruber J, Majewski J, Beaulieu CL, Qin W, Marshall CR, Paton TA, Roslin NM, Paterson AD, Fahiminiya S, French J, Boycott KM, Woods MO, et al. Novel 25 kb Deletion of MERTK Causes Retinitis Pigmentosa With Severe Progression. Investigative Ophthalmology & Visual Science. 58: 1736-1742. PMID 28324114 DOI: 10.1167/Iovs.16-20864 |
0.319 |
|
| 2017 |
Frosk P, Arts HH, Philippe J, Gunn CS, Brown EL, Chodirker B, Simard L, Majewski J, Fahiminiya S, Russell C, Liu YP, Hegele R, Katsanis N, et al. A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis. Journal of Medical Genetics. PMID 28264986 DOI: 10.1136/Jmedgenet-2016-104296 |
0.374 |
|
| 2017 |
Keser V, Khan A, Siddiqui S, Lopez I, Ren H, Qamar R, Nadaf J, Majewski J, Chen R, Koenekoop RK. The Genetic Causes of Nonsyndromic Congenital Retinal Detachment: A Genetic and Phenotypic Study of Pakistani Families. Investigative Ophthalmology & Visual Science. 58: 1028-1036. PMID 28192794 DOI: 10.1167/Iovs.16-20281 |
0.34 |
|
| 2017 |
Kernohan KD, Dyment DA, Pupavac M, Cramer Z, McBride A, Bernard G, Straub I, Tetreault M, Hartley T, Huang L, Sell E, Majewski J, Rosenblatt DS, Shoubridge E, Mhanni A, et al. Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (TRIT1) gene. Human Mutation. PMID 28185376 DOI: 10.1002/Humu.23196 |
0.442 |
|
| 2017 |
Balci TB, Hartley T, Xi Y, Dyment DA, Beaulieu CL, Bernier FP, Dupuis L, Horvath G, Mendoza-Londono R, Prasad C, Richer J, Yang XR, Armour CM, Bareke E, Fernandez BA, ... ... Majewski J, et al. Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole exome sequencing. Clinical Genetics. PMID 28170084 DOI: 10.1111/Cge.12987 |
0.372 |
|
| 2017 |
Lovric S, Goncalves S, Gee HY, Oskouian B, Srinivas H, Choi WI, Shril S, Ashraf S, Tan W, Rao J, Airik M, Schapiro D, Braun DA, Sadowski CE, Widmeier E, ... ... Majewski J, et al. Mutations in sphingosine-1-phosphase lyase cause nephrosis with ichthyosis and adrenal insufficiency. The Journal of Clinical Investigation. PMID 28165339 DOI: 10.1172/Jci89626 |
0.502 |
|
| 2017 |
Papillon-Cavanagh S, Lu C, Gayden T, Mikael LG, Bechet D, Karamboulas C, Ailles L, Karamchandani J, Marchione DM, Garcia BA, Weinreb I, Goldstein D, Lewis PW, Dancu OM, Dhaliwal S, ... ... Majewski J, et al. Impaired H3K36 methylation defines a subset of head and neck squamous cell carcinomas. Nature Genetics. PMID 28067913 DOI: 10.1038/Ng.3757 |
0.348 |
|
| 2017 |
La Piana R, Weraarpachai W, Ospina LH, Tetreault M, Majewski J, Bruce Pike G, Decarie JC, Tampieri D, Brais B, Shoubridge EA. Identification and functional characterization of a novel MTFMT mutation associated with selective vulnerability of the visual pathway and a mild neurological phenotype. Neurogenetics. PMID 28058511 DOI: 10.1007/S10048-016-0506-0 |
0.421 |
|
| 2017 |
Fiset PO, Fontebasso AM, De Jay N, Gayden T, Nikbakht H, Majewski J, Jabado N, Albrecht S. Longitudinal mutational analysis of a cerebellar pilocytic astrocytoma recurring as a ganglioglioma. Pediatric Blood & Cancer. 64: 275-278. PMID 27718322 DOI: 10.1002/Pbc.26215 |
0.78 |
|
| 2017 |
Lu C, Papillon-Cavanagh S, Gayden T, Mikael LG, Bechet D, Karamboulas C, Ailles L, Karamchandani J, Marchione DM, Garcia BA, Weinreb I, Goldstein D, Lewis PW, Dancu O, Dhaliwal S, ... ... Majewski J, et al. Abstract 08: Impaired H3K36 methylation defines a subset of head and neck squamous cell carcinomas Clinical Cancer Research. 23: 8-8. DOI: 10.1158/1557-3265.Aacrahns17-08 |
0.34 |
|
| 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, ... ... Majewski J, 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 |
0.401 |
|
| 2016 |
Torchia J, Golbourn B, Feng S, Ho KC, Sin-Chan P, Vasiljevic A, Norman JD, Guilhamon P, Garzia L, Agamez NR, Lu M, Chan TS, Picard D, de Antonellis P, Khuong-Quang DA, ... ... Majewski J, et al. Integrated (epi)-Genomic Analyses Identify Subgroup-Specific Therapeutic Targets in CNS Rhabdoid Tumors. Cancer Cell. 30: 891-908. PMID 27960086 DOI: 10.1016/J.Ccell.2016.11.003 |
0.361 |
|
| 2016 |
Ulrick N, Goldstein A, Simons C, Taft RJ, Helman G, Pizzino A, Bloom M, Vogt J, Pysden K, Diodato D, Martinelli D, Monavari A, Buhas D, van Karnebeek CD, Dorboz I, ... ... Majewski J, et al. RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss-Another Mendelian Mimicker of Congenital Cytomegalovirus Infection. Pediatric Neurology. PMID 27843092 DOI: 10.1016/J.Pediatrneurol.2016.09.003 |
0.325 |
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| 2016 |
Vasli N, Harris E, Karamchandani J, Bareke E, Majewski J, Romero NB, Stojkovic T, Barresi R, Tasfaout H, Charlton R, Malfatti E, Bohm J, Marini-Bettolo C, Choquet K, Dicaire MJ, et al. Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion. Brain : a Journal of Neurology. PMID 27816943 DOI: 10.1093/Brain/Aww257 |
0.455 |
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| 2016 |
Torre S, Polyak MJ, Langlais D, Fodil N, Kennedy JM, Radovanovic I, Berghout J, Leiva-Torres GA, Krawczyk CM, Ilangumaran S, Mossman K, Liang C, Knobeloch KP, Healy LM, Antel J, ... ... Majewski J, et al. USP15 regulates type I interferon response and is required for pathogenesis of neuroinflammation. Nature Immunology. PMID 27721430 DOI: 10.1038/Ni.3581 |
0.345 |
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| 2016 |
Kernohan KD, McBride A, Xi Y, Martin N, Schwartzentruber J, Dyment DA, Majewski J, Blaser S, Boycott KM, Chitayat D. Loss of the arginine methyltranserase PRMT7 causes syndromic intellectual disability with microcephaly and brachydactyly. Clinical Genetics. PMID 27718516 DOI: 10.1111/Cge.12884 |
0.349 |
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| 2016 |
Nowaczyk MJ, Huang L, Tarnopolsky M, Schwartzentruber J, Majewski J, Bulman DE, Hartley T, Boycott KM. A novel multisystem disease associated with recessive mutations in the tyrosyl-tRNA synthetase (YARS) gene. American Journal of Medical Genetics. Part A. PMID 27633801 DOI: 10.1002/Ajmg.A.37973 |
0.46 |
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| 2016 |
Lagresle-Peyrou C, Luce S, Ouchani F, Soheili TS, Sadek H, Chouteau M, Durand A, Pic I, Majewski J, Brouzes C, Lambert N, Bohineust A, Verhoeyen E, Cosset FL, Magerus-Chatinet A, et al. X-linked primary immunodeficiency associated with hemizygous mutations in the moesin (MSN) gene. The Journal of Allergy and Clinical Immunology. PMID 27405666 DOI: 10.1016/J.Jaci.2016.04.032 |
0.344 |
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| 2016 |
Pupavac M, Watkins D, Petrella F, Fahiminiya S, Janer A, Cheung W, Gingras AC, Pastinen T, Muenzer J, Majewski J, Shoubridge EA, Rosenblatt DS. Inborn Error of Cobalamin Metabolism Associated with the Intracellular Accumulation of Transcobalamin-Bound Cobalamin and Mutations in ZNF143, Which Codes for a Transcriptional Activator. Human Mutation. PMID 27349184 DOI: 10.1002/Humu.23037 |
0.359 |
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| 2016 |
Mah W, Sonkusare SK, Wang T, Azeddine B, Pupavac M, Carrot-Zhang J, Hong K, Majewski J, Harvey EJ, Russell L, Chalk C, Rosenblatt DS, Nelson MT, Séguin C. Gain-of-function mutation in TRPV4 identified in patients with osteonecrosis of the femoral head. Journal of Medical Genetics. PMID 27330106 DOI: 10.1136/Jmedgenet-2016-103829 |
0.311 |
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| 2016 |
Lu C, Jain SU, Hoelper D, Bechet D, Molden RC, Ran L, Murphy D, Venneti S, Hameed M, Pawel BR, Wunder JS, Dickson BC, Lundgren SM, Jani KS, De Jay N, ... ... Majewski J, et al. Histone H3K36 mutations promote sarcomagenesis through altered histone methylation landscape. Science (New York, N.Y.). 352: 844-9. PMID 27174990 DOI: 10.1126/Science.Aac7272 |
0.452 |
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| 2016 |
Armour CM, Smith A, Hartley T, Warman Chardon J, Sawyer S, Schwartzentruber J, Hennekam R, Majewski J, Bulman DE, Suri M, Boycott KM. Syndrome disintegration: Exome sequencing reveals that Fitzsimmons syndrome is a co-occurrence of multiple events. American Journal of Medical Genetics. Part A. PMID 27133561 DOI: 10.1002/Ajmg.A.37684 |
0.416 |
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| 2016 |
Diggle CP, Sukoff Rizzo SJ, Popiolek M, Hinttala R, Schülke JP, Kurian MA, Carr IM, Markham AF, Bonthron DT, Watson C, Sharif SM, Reinhart V, James LC, Vanase-Frawley MA, Charych E, ... ... Majewski J, et al. Biallelic Mutations in PDE10A Lead to Loss of Striatal PDE10A and a Hyperkinetic Movement Disorder with Onset in Infancy. American Journal of Human Genetics. 98: 735-43. PMID 27058446 DOI: 10.1016/J.Ajhg.2016.03.015 |
0.399 |
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| 2016 |
Nikbakht H, Panditharatna E, Mikael LG, Li R, Gayden T, Osmond M, Ho CY, Kambhampati M, Hwang EI, Faury D, Siu A, Papillon-Cavanagh S, Bechet D, Ligon KL, Ellezam B, ... ... Majewski J, et al. Spatial and temporal homogeneity of driver mutations in diffuse intrinsic pontine glioma. Nature Communications. 7: 11185. PMID 27048880 DOI: 10.1038/Ncomms11185 |
0.765 |
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| 2016 |
Cybulski C, Carrot-Zhang J, Kluźniak W, Rivera B, Kashyap A, Wokołorczyk D, Giroux S, Nadaf J, Hamel N, Zhang S, Huzarski T, Gronwald J, Byrski T, Szwiec M, Jakubowska A, ... ... Majewski J, et al. Corrigendum: Germline RECQL mutations are associated with breast cancer susceptibility. Nature Genetics. 48: 473. PMID 27023777 DOI: 10.1038/Ng0329-473C |
0.324 |
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| 2016 |
Bennett JT, Tan TY, Alcantara D, Tétrault M, Timms AE, Jensen D, Collins S, Nowaczyk MJ, Lindhurst MJ, Christensen KM, Braddock SR, Brandling-Bennett H, Hennekam RC, Chung B, Lehman A, ... ... Majewski J, et al. Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis. American Journal of Human Genetics. 98: 579-87. PMID 26942290 DOI: 10.1016/J.Ajhg.2016.02.006 |
0.484 |
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| 2016 |
Rivera B, Gayden T, Carrot-Zhang J, Nadaf J, Boshari T, Faury D, Zeinieh M, Blanc R, Burk DL, Fahiminiya S, Bareke E, Schüller U, Monoranu CM, Sträter R, Kerl K, ... ... Majewski J, et al. Germline and somatic FGFR1 abnormalities in dysembryoplastic neuroepithelial tumors. Acta Neuropathologica. PMID 26920151 DOI: 10.1007/S00401-016-1549-X |
0.469 |
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| 2016 |
Shao YH, Choquet K, La Piana R, Tétreault M, Dicaire MJ, Boycott KM, Majewski J, Brais B. Mutations in GALC cause late-onset Krabbe disease with predominant cerebellar ataxia. Neurogenetics. PMID 26915362 DOI: 10.1007/S10048-016-0476-2 |
0.393 |
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| 2016 |
Castellsague E, Carrot-Zhang J, Gamache I, Rivera B, Moustafa M, Barford D, Majewski J, Teodoro J, Foulkes WD. Abstract PR13: Germ-line mutations in CDC20 result in familial cancers via deregulation of the cell cycle Molecular Cancer Research. 14. DOI: 10.1158/1557-3125.Cellcycle16-Pr13 |
0.436 |
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| 2016 |
Basik M, Aguilar-Mahecha A, Lafleur J, Bareke E, Przybytkowski E, Alirezaie N, Discepola F, Légaré S, Kovacina B, Lan C, Mihalcioiu C, Robidoux A, Marcus E, Roy J, Pelmus M, ... ... Majewski J, et al. Abstract P6-03-03: The Q-CROC-3 project reveals novel genomic alterations in triple negative breast cancers in residual tumors after neoadjuvant chemotherapy Cancer Research. 76. DOI: 10.1158/1538-7445.Sabcs15-P6-03-03 |
0.373 |
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| 2016 |
Rivera B, Gayden T, Zhang J, Nadaf J, Boshari T, Faury D, Zeinieh M, Blanc R, Burk D, Fahiminiya S, Bareke E, Schueller U, Monoranu CM, Sträter R, Kerl K, ... ... Majewski J, et al. Abstract LB-019: FGFR1 abnormalities in seizure-associated familial and sporadic dysembryoplastic neuroepithelial tumors Cancer Research. 76. DOI: 10.1158/1538-7445.Am2016-Lb-019 |
0.478 |
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| 2016 |
Panditharatna E, Nikbakht H, Mikael L, Li R, Gayden T, Osmand M, Ho C, Kambhampati M, Hwang EI, Faury D, Siu A, Papillon-Cavanagh S, Bechet D, Ligon KL, Ellezam B, ... ... Majewski J, et al. Hg-76Spatial And Temporal Homogeneity Of Driver Mutations In Diffuse Intrinsic Pontine Glioma Neuro-Oncology. 18. DOI: 10.1093/Neuonc/Now073.72 |
0.735 |
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| 2015 |
Zhang AY, Mysore N, Vali H, Koenekoop J, Cao SN, Li S, Ren H, Keser V, Lopez-Solache I, Siddiqui SN, Khan A, Mui J, Sears K, Dixon J, Schwartzentruber J, ... Majewski J, et al. Choroideremia Is a Systemic Disease With Lymphocyte Crystals and Plasma Lipid and RBC Membrane Abnormalities. Investigative Ophthalmology & Visual Science. 56: 8158-8165. PMID 26720468 DOI: 10.1167/Iovs.14-15751 |
0.359 |
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| 2015 |
Choquet K, Zurita-Rendón O, La Piana R, Yang S, Dicaire MJ, Boycott KM, Majewski J, Shoubridge EA, Brais B, Tétreault M. Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA. Brain : a Journal of Neurology. PMID 26657514 DOI: 10.1093/brain/awv362 |
0.355 |
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| 2015 |
Fahiminiya S, Witkowski L, Nadaf J, Carrot-Zhang J, Goudie C, Hasselblatt M, Johann P, Kool M, Lee RS, Gayden T, Roberts CW, Biegel JA, Jabado N, Majewski J, Foulkes WD. Molecular analyses reveal close similarities between small cell carcinoma of the ovary, hypercalcemic type and atypical teratoid/rhabdoid tumor. Oncotarget. PMID 26646792 DOI: 10.18632/Oncotarget.6459 |
0.465 |
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| 2015 |
Boycott KM, Beaulieu CL, Kernohan KD, Gebril OH, Mhanni A, Chudley AE, Redl D, Qin W, Hampson S, Küry S, Tetreault M, Puffenberger EG, Scott JN, Bezieau S, Reis A, ... ... Majewski J, et al. Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8. American Journal of Human Genetics. 97: 886-93. PMID 26637978 DOI: 10.1016/J.Ajhg.2015.11.002 |
0.387 |
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| 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 |
0.482 |
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| 2015 |
Shamseldin H, Alazami AM, Manning M, Hashem A, Caluseiu O, Tabarki B, Esplin E, Schelley S, Innes AM, Parboosingh JS, Lamont R, Majewski J, Bernier FP, Alkuraya FS. RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans. American Journal of Human Genetics. PMID 26608784 DOI: 10.1016/J.Ajhg.2015.10.012 |
0.491 |
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| 2015 |
Smith AL, Alirezaie N, Connor A, Chan-Seng-Yue M, Grant R, Selander I, Bascuñana C, Borgida A, Hall A, Whelan T, Holter S, McPherson T, Cleary S, Petersen GM, Omeroglu A, ... ... Majewski J, et al. Candidate DNA repair susceptibility genes identified by exome sequencing in high-risk pancreatic cancer. Cancer Letters. PMID 26546047 DOI: 10.1016/J.Canlet.2015.10.030 |
0.361 |
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| 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, ... ... Majewski J, 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 |
0.476 |
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| 2015 |
Kernohan KD, Tétreault M, Liwak-Muir U, Geraghty MT, Qin W, Venkateswaran S, Davila J, Holcik M, Majewski J, Richer J, Boycott KM. Homozygous mutation in the eukaryotic translation initiation factor 2alpha phosphatase gene, PPP1R15B, is associated with severe microcephaly, short stature and intellectual disability. Human Molecular Genetics. 24: 6293-300. PMID 26307080 DOI: 10.1093/Hmg/Ddv337 |
0.423 |
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| 2015 |
Wagner JD, Huang L, Tetreault M, Majewski J, Boycott KM, Bulman DE, Dyment DA, McMillan HJ. Autosomal recessive axonal polyneuropathy in a sibling pair due to a novel homozygous mutation in IGHMBP2. Neuromuscular Disorders : Nmd. 25: 794-9. PMID 26298607 DOI: 10.1016/J.Nmd.2015.07.017 |
0.498 |
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| 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, ... ... Majewski J, 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 |
0.432 |
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| 2015 |
Au PY, You J, Caluseriu O, Schwartzentruber J, Majewski J, Bernier FP, Ferguson M, Valle D, Parboosingh JS, Sobreira N, Innes AM, Kline AD. GeneMatcher Aids in the Identification of a New Malformation Syndrome with Intellectual Disability, Unique Facial Dysmorphisms, and Skeletal and Connective Tissue Abnormalities Caused by De Novo Variants in HNRNPK. Human Mutation. PMID 26173930 DOI: 10.1002/Humu.22837 |
0.372 |
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| 2015 |
Imai A, Nakaya A, Fahiminiya S, Tétreault M, Majewski J, Sakata Y, Takashima S, Lathrop M, Ott J. Beyond Homozygosity Mapping: Family-Control analysis based on Hamming distance for prioritizing variants in exome sequencing. Scientific Reports. 5: 12028. PMID 26143870 DOI: 10.1038/Srep12028 |
0.34 |
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| 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 |
0.442 |
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| 2015 |
Sawyer SL, Cheuk-Him Ng A, Innes AM, Wagner JD, Dyment DA, Tetreault M, Majewski J, Boycott KM, Screaton RA, Nicholson G. Homozygous mutations in MFN2 cause multiple symmetric lipomatosis associated with neuropathy. Human Molecular Genetics. PMID 26085578 DOI: 10.1093/Hmg/Ddv229 |
0.497 |
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| 2015 |
Mendoza-Londono R, Fahiminiya S, Majewski J, Tétreault M, Nadaf J, Kannu P, Sochett E, Howard A, Stimec J, Dupuis L, Roschger P, Klaushofer K, Palomo T, Ouellet J, et al. Recessive osteogenesis imperfecta caused by missense mutations in SPARC. American Journal of Human Genetics. 96: 979-85. PMID 26027498 DOI: 10.1016/J.Ajhg.2015.04.021 |
0.364 |
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| 2015 |
Munns CF, Fahiminiya S, Poudel N, Munteanu MC, Majewski J, Sillence DO, Metcalf JP, Biggin A, Glorieux F, Fassier F, Rauch F, Hinsdale ME. Homozygosity for frameshift mutations in XYLT2 result in a spondylo-ocular syndrome with bone fragility, cataracts, and hearing defects. American Journal of Human Genetics. 96: 971-8. PMID 26027496 DOI: 10.1016/J.Ajhg.2015.04.017 |
0.417 |
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| 2015 |
Tetreault M, Bareke E, Nadaf J, Alirezaie N, Majewski J. Whole-exome sequencing as a diagnostic tool: current challenges and future opportunities. Expert Review of Molecular Diagnostics. 15: 749-60. PMID 25959410 DOI: 10.1586/14737159.2015.1039516 |
0.329 |
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| 2015 |
Boycott K, Hartley T, Adam S, Bernier F, Chong K, Fernandez BA, Friedman JM, Geraghty MT, Hume S, Knoppers BM, Laberge AM, Majewski J, Mendoza-Londono R, Meyn MS, Michaud JL, et al. The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists. Journal of Medical Genetics. 52: 431-7. PMID 25951830 DOI: 10.1136/Jmedgenet-2015-103144 |
0.314 |
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| 2015 |
Frosk P, Chodirker B, Simard L, El-Matary W, Hanlon-Dearman A, Schwartzentruber J, Majewski J, Rockman-Greenberg C. A novel CCBE1 mutation leading to a mild form of hennekam syndrome: case report and review of the literature. Bmc Medical Genetics. 16: 28. PMID 25925991 DOI: 10.1186/S12881-015-0175-0 |
0.451 |
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| 2015 |
Cybulski C, Carrot-Zhang J, Klu?niak W, Rivera B, Kashyap A, Woko?orczyk D, Giroux S, Nadaf J, Hamel N, Zhang S, Huzarski T, Gronwald J, Byrski T, Szwiec M, Jakubowska A, ... ... Majewski J, et al. Germline RECQL mutations are associated with breast cancer susceptibility. Nature Genetics. 47: 643-6. PMID 25915596 DOI: 10.1038/Ng.3284 |
0.369 |
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| 2015 |
Hinttala R, Sasarman F, Nishimura T, Antonicka H, Brunel-Guitton C, Schwartzentruber J, Fahiminiya S, Majewski J, Faubert D, Ostergaard E, Smeitink JA, Shoubridge EA. An N-terminal formyl methionine on COX 1 is required for the assembly of cytochrome c oxidase. Human Molecular Genetics. 24: 4103-13. PMID 25911677 DOI: 10.1093/Hmg/Ddv149 |
0.321 |
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| 2015 |
Richer J, Daoud H, Geier P, Jarinova O, Carson N, Feberova J, Ben Fadel N, Fadfel NB, Unrau J, Bareke E, Khatchadourian K, Bulman DE, Majewski J, Boycott KM, Dyment DA. Resolution of refractory hypotension and anuria in a premature newborn with loss-of-function of ACE. American Journal of Medical Genetics. Part A. 167: 1654-8. PMID 25899979 DOI: 10.1002/Ajmg.A.37067 |
0.339 |
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| 2015 |
Liu H, Sawyer SL, Gos M, Grynspan D, Issa K, Ramphal R, Rotaru C, Consortium FC, Majewski J, Boycott KM, Graham G, Bromwich M. Atypical fibrodysplasia ossificans progressiva diagnosed by whole-exome sequencing. American Journal of Medical Genetics. Part A. 167: 1337-41. PMID 25899773 DOI: 10.1002/Ajmg.A.36969 |
0.381 |
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| 2015 |
Ben-Omran T, Fahiminiya S, Sorfazlian N, Almuriekhi M, Nawaz Z, Nadaf J, Khadija KA, Zaineddin S, Kamel H, Majewski J, Tropepe V. Nonsense mutation in the WDR73 gene is associated with Galloway-Mowat syndrome. Journal of Medical Genetics. 52: 381-90. PMID 25873735 DOI: 10.1136/Jmedgenet-2014-102707 |
0.446 |
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| 2015 |
Yamamoto GL, Aguena M, Gos M, Hung C, Pilch J, Fahiminiya S, Abramowicz A, Cristian I, Buscarilli M, Naslavsky MS, Malaquias AC, Zatz M, Bodamer O, Majewski J, Jorge AA, et al. Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome. Journal of Medical Genetics. 52: 413-21. PMID 25795793 DOI: 10.1136/Jmedgenet-2015-103018 |
0.449 |
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| 2015 |
Xi Y, Honeywell C, Zhang D, Schwartzentruber J, Beaulieu CL, Tetreault M, Hartley T, Marton J, Vidal SM, Majewski J, Aravind L, Gollob M, Boycott KM, Gow RM. Whole exome sequencing identifies the TNNI3K gene as a cause of familial conduction system disease and congenital junctional ectopic tachycardia. International Journal of Cardiology. 185: 114-6. PMID 25791106 DOI: 10.1016/J.Ijcard.2015.03.130 |
0.304 |
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| 2015 |
Almuriekhi M, Shintani T, Fahiminiya S, Fujikawa A, Kuboyama K, Takeuchi Y, Nawaz Z, Nadaf J, Kamel H, Kitam AK, Samiha Z, Mahmoud L, Ben-Omran T, Majewski J, Noda M. Loss-of-Function Mutation in APC2 Causes Sotos Syndrome Features. Cell Reports. PMID 25753423 DOI: 10.1016/J.Celrep.2015.02.011 |
0.42 |
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| 2015 |
Rauch F, Fahiminiya S, Majewski J, Carrot-Zhang J, Boudko S, Glorieux F, Mort JS, Bächinger HP, Moffatt P. Cole-Carpenter syndrome is caused by a heterozygous missense mutation in P4HB. American Journal of Human Genetics. 96: 425-31. PMID 25683117 DOI: 10.1016/J.Ajhg.2014.12.027 |
0.482 |
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| 2015 |
Chardon JW, Smith AC, Woulfe J, Pena E, Rakhra K, Dennie C, Beaulieu C, Huang L, Schwartzentruber J, Hawkins C, Harms MB, Dojeiji S, Zhang M, Majewski J, et al. LIMS2 mutations are associated with a novel muscular dystrophy, severe cardiomyopathy and triangular tongues. Clinical Genetics. PMID 25589244 DOI: 10.1111/Cge.12561 |
0.43 |
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| 2015 |
Kmoch S, Majewski J, Ramamurthy V, Cao S, Fahiminiya S, Ren H, MacDonald IM, Lopez I, Sun V, Keser V, Khan A, Stránecký V, Hartmannová H, P?istoupilová A, Hoda?ová K, et al. Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness. Nature Communications. 6: 5614. PMID 25574898 DOI: 10.1038/Ncomms6614 |
0.443 |
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| 2015 |
Sawyer SL, Tian L, Kähkönen M, Schwartzentruber J, Kircher M, Majewski J, Dyment DA, Innes AM, Boycott KM, Moreau LA, Moilanen JS, Greenberg RA. Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype. Cancer Discovery. 5: 135-42. PMID 25472942 DOI: 10.1158/2159-8290.CD-14-1156 |
0.303 |
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| 2015 |
Smith A, Bulman DE, Goldsmith C, Bareke E, Majewski J, Boycott KM, Nikkel SM. Meconium ileus in a Lebanese family secondary to mutations in the GUCY2C gene. European Journal of Human Genetics : Ejhg. 23: 990-2. PMID 25370039 DOI: 10.1038/Ejhg.2014.236 |
0.456 |
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| 2015 |
McMillan HJ, Humphreys P, Smith A, Schwartzentruber J, Chakraborty P, Bulman DE, Beaulieu CL, Majewski J, Boycott KM, Geraghty MT. Congenital Visual Impairment and Progressive Microcephaly Due to Lysyl-Transfer Ribonucleic Acid (RNA) Synthetase (KARS) Mutations: The Expanding Phenotype of Aminoacyl-Transfer RNA Synthetase Mutations in Human Disease. Journal of Child Neurology. 30: 1037-43. PMID 25330800 DOI: 10.1177/0883073814553272 |
0.366 |
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| 2015 |
Dyment DA, Smith AC, Humphreys P, Schwartzentruber J, Beaulieu CL, Bulman DE, Majewski J, Woulfe J, Michaud J, Boycott KM. Homozygous nonsense mutation in SYNJ1 associated with intractable epilepsy and tau pathology. Neurobiology of Aging. 36: 1222.e1-5. PMID 25316601 DOI: 10.1016/J.Neurobiolaging.2014.09.005 |
0.391 |
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| 2015 |
Nadaf J, Majewski J, Fahiminiya S. ExomeAI: detection of recurrent allelic imbalance in tumors using whole-exome sequencing data. Bioinformatics (Oxford, England). 31: 429-31. PMID 25297069 DOI: 10.1093/Bioinformatics/Btu665 |
0.331 |
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| 2015 |
Dyment DA, Tétreault M, Beaulieu CL, Hartley T, Ferreira P, Chardon JW, Marcadier J, Sawyer SL, Mosca SJ, Innes AM, Parboosingh JS, Bulman DE, Schwartzentruber J, Majewski J, Tarnopolsky M, et al. Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study. Clinical Genetics. 88: 34-40. PMID 25046240 DOI: 10.1111/Cge.12464 |
0.423 |
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| 2015 |
Witkowski L, Carrot-Zhang J, Majewski J, Foulkes WD. Abstract AS01: Molecular genetic approaches to understanding ovarian cancer Clinical Cancer Research. 21. DOI: 10.1158/1557-3265.Ovcasymp14-As01 |
0.517 |
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| 2015 |
Aguilar-Mahecha A, Przybytkowski E, Lafleur J, Lan C, Légaré S, Alirezaie N, Séguin C, Discepola F, Kovacina B, Mihalcioiu C, Robidoux A, Marcus E, Roy JA, Pelmus M, Aleynikova O, ... ... Majewski J, et al. Abstract 4320: Genomic change in residual triple-negative breast cancers after neoadjuvant chemotherapy Cancer Research. 75: 4320-4320. DOI: 10.1158/1538-7445.Am2015-4320 |
0.399 |
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| 2015 |
Daoud H, Luco SM, Li R, Armour C, Carson N, Jarinova O, Nikkel S, Richer J, Majewski J, Boycott K, Dyment D. MG-132 Next-generation sequencing in the neonatal intensive care unit: Pilot data from 12 newborns Journal of Medical Genetics. 52. DOI: 10.1136/Jmedgenet-2015-103577.23 |
0.43 |
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| 2014 |
Brue T, Quentien MH, Khetchoumian K, Bensa M, Capo-Chichi JM, Delemer B, Balsalobre A, Nassif C, Papadimitriou DT, Pagnier A, Hasselmann C, Patry L, Schwartzentruber J, Souchon PF, Takayasu S, ... ... Majewski J, et al. Mutations in NFKB2 and potential genetic heterogeneity in patients with DAVID syndrome, having variable endocrine and immune deficiencies Bmc Medical Genetics. 15. PMID 25524009 DOI: 10.1186/S12881-014-0139-9 |
0.5 |
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| 2014 |
Kennedy JM, Fodil N, Torre S, Bongfen SE, Olivier JF, Leung V, Langlais D, Meunier C, Berghout J, Langat P, Schwartzentruber J, Majewski J, Lathrop M, Vidal SM, Gros P. CCDC88B is a novel regulator of maturation and effector functions of T cells during pathological inflammation. The Journal of Experimental Medicine. 211: 2519-35. PMID 25403443 DOI: 10.1084/Jem.20140455 |
0.346 |
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| 2014 |
Gaston D, Hansford S, Oliveira C, Nightingale M, Pinheiro H, Macgillivray C, Kaurah P, Rideout AL, Steele P, Soares G, Huang WY, Whitehouse S, Blowers S, LeBlanc MA, Jiang H, ... ... Majewski J, et al. Germline mutations in MAP3K6 are associated with familial gastric cancer. Plos Genetics. 10: e1004669. PMID 25340522 DOI: 10.1371/Journal.Pgen.1004669 |
0.381 |
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| 2014 |
Joseph JT, Innes AM, Smith AC, Vanstone MR, Schwartzentruber JA, Bulman DE, Majewski J, Daza RA, Hevner RF, Michaud J, Boycott KM. Neuropathologic features of pontocerebellar hypoplasia type 6. Journal of Neuropathology and Experimental Neurology. 73: 1009-25. PMID 25289895 DOI: 10.1097/Nen.0000000000000123 |
0.373 |
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| 2014 |
Reddy R, Fahiminiya S, El Zir E, Mansour A, Megarbane A, Majewski J, Slim R. Molecular genetics of the Usher syndrome in Lebanon: identification of 11 novel protein truncating mutations by whole exome sequencing. Plos One. 9: e107326. PMID 25211151 DOI: 10.1371/Journal.Pone.0107326 |
0.513 |
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| 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 |
0.473 |
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| 2014 |
Robitaille JM, Gillett RM, LeBlanc MA, Gaston D, Nightingale M, Mackley MP, Parkash S, Hathaway J, Thomas A, Ells A, Traboulsi EI, Héon E, Roy M, Shalev S, Fernandez CV, ... ... Majewski J, et al. Phenotypic overlap between familial exudative vitreoretinopathy and microcephaly, lymphedema, and chorioretinal dysplasia caused by KIF11 mutations. Jama Ophthalmology. 132: 1393-9. PMID 25124931 DOI: 10.1001/Jamaophthalmol.2014.2814 |
0.466 |
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| 2014 |
Aldinger KA, Mosca SJ, Tétreault M, Dempsey JC, Ishak GE, Hartley T, Phelps IG, Lamont RE, O'Day DR, Basel D, Gripp KW, Baker L, Stephan MJ, Bernier FP, Boycott KM, ... Majewski J, et al. Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy. American Journal of Human Genetics. 95: 227-34. PMID 25105227 DOI: 10.1016/J.Ajhg.2014.07.007 |
0.447 |
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| 2014 |
Fontebasso AM, Gayden T, Nikbakht H, Neirinck M, Papillon-Cavanagh S, Majewski J, Jabado N. Epigenetic dysregulation: a novel pathway of oncogenesis in pediatric brain tumors. Acta Neuropathologica. 128: 615-27. PMID 25077668 DOI: 10.1007/S00401-014-1325-8 |
0.771 |
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| 2014 |
Lynch DC, Revil T, Schwartzentruber J, Bhoj EJ, Innes AM, Lamont RE, Lemire EG, Chodirker BN, Taylor JP, Zackai EH, McLeod DR, Kirk EP, Hoover-Fong J, Fleming L, Savarirayan R, ... ... Majewski J, et al. Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndrome. Nature Communications. 5: 4483. PMID 25047197 DOI: 10.1038/Ncomms5483 |
0.435 |
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| 2014 |
Gos M, Fahiminiya S, Poznański J, Klapecki J, Obersztyn E, Piotrowicz M, Wierzba J, Posmyk R, Bal J, Majewski J. Contribution of RIT1 mutations to the pathogenesis of Noonan syndrome: four new cases and further evidence of heterogeneity. American Journal of Medical Genetics. Part A. 164: 2310-6. PMID 24939608 DOI: 10.1002/Ajmg.A.36646 |
0.492 |
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| 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, ... ... Majewski J, 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 |
0.736 |
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| 2014 |
Beaulieu CL, Majewski J, Schwartzentruber J, Samuels ME, Fernandez BA, Bernier FP, Brudno M, Knoppers B, Marcadier J, Dyment D, Adam S, Bulman DE, Jones SJ, Avard D, Nguyen MT, et al. FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project. American Journal of Human Genetics. 94: 809-17. PMID 24906018 DOI: 10.1016/J.Ajhg.2014.05.003 |
0.388 |
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| 2014 |
Venkateswaran S, Myers KA, Smith AC, Beaulieu CL, Schwartzentruber JA, Majewski J, Bulman D, Boycott KM, Dyment DA. Whole-exome sequencing in an individual with severe global developmental delay and intractable epilepsy identifies a novel, de novo GRIN2A mutation. Epilepsia. 55: e75-9. PMID 24903190 DOI: 10.1111/Epi.12663 |
0.406 |
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| 2014 |
Martin E, Palmic N, Sanquer S, Lenoir C, Hauck F, Mongellaz C, Fabrega S, Nitschké P, Esposti MD, Schwartzentruber J, Taylor N, Majewski J, Jabado N, Wynn RF, Picard C, et al. CTP synthase 1 deficiency in humans reveals its central role in lymphocyte proliferation. Nature. 510: 288-92. PMID 24870241 DOI: 10.1038/Nature13386 |
0.32 |
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| 2014 |
Foulkes WD, Clarke BA, Hasselblatt M, Majewski J, Albrecht S, McCluggage WG. No small surprise - small cell carcinoma of the ovary, hypercalcaemic type, is a malignant rhabdoid tumour. The Journal of Pathology. 233: 209-14. PMID 24752781 DOI: 10.1002/Path.4362 |
0.426 |
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| 2014 |
Smith AC, Mears AJ, Bunker R, Ahmed A, MacKenzie M, Schwartzentruber JA, Beaulieu CL, Ferretti E, Majewski J, Bulman DE, Celik FC, Boycott KM, Graham GE. Mutations in the enzyme glutathione peroxidase 4 cause Sedaghatian-type spondylometaphyseal dysplasia. Journal of Medical Genetics. 51: 470-4. PMID 24706940 DOI: 10.1136/Jmedgenet-2013-102218 |
0.45 |
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| 2014 |
Mirzaa GM, Parry DA, Fry AE, Giamanco KA, Schwartzentruber J, Vanstone M, Logan CV, Roberts N, Johnson CA, Singh S, Kholmanskikh SS, Adams C, Hodge RD, Hevner RF, Bonthron DT, ... ... Majewski J, et al. De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome. Nature Genetics. 46: 510-5. PMID 24705253 DOI: 10.1038/Ng.2948 |
0.43 |
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| 2014 |
Fontebasso AM, Papillon-Cavanagh S, Schwartzentruber J, Nikbakht H, Gerges N, Fiset PO, Bechet D, Faury D, De Jay N, Ramkissoon LA, Corcoran A, Jones DT, Sturm D, Johann P, Tomita T, ... ... Majewski J, et al. Recurrent somatic mutations in ACVR1 in pediatric midline high-grade astrocytoma. Nature Genetics. 46: 462-6. PMID 24705250 DOI: 10.1038/Ng.2950 |
0.786 |
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| 2014 |
Gavino C, Cotter A, Lichtenstein D, Lejtenyi D, Fortin C, Legault C, Alirezaie N, Majewski J, Sheppard DC, Behr MA, Foulkes WD, Vinh DC. CARD9 deficiency and spontaneous central nervous system candidiasis: complete clinical remission with GM-CSF therapy. Clinical Infectious Diseases : An Official Publication of the Infectious Diseases Society of America. 59: 81-4. PMID 24704721 DOI: 10.1093/Cid/Ciu215 |
0.331 |
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| 2014 |
McMillan HJ, Schwartzentruber J, Smith A, Lee S, Chakraborty P, Bulman DE, Beaulieu CL, Majewski J, Boycott KM, Geraghty MT. Compound heterozygous mutations in glycyl-tRNA synthetase are a proposed cause of systemic mitochondrial disease. Bmc Medical Genetics. 15: 36. PMID 24669931 DOI: 10.1186/1471-2350-15-36 |
0.388 |
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| 2014 |
Brownstein CA, Beggs AH, Homer N, Merriman B, Yu TW, Flannery KC, DeChene ET, Towne MC, Savage SK, Price EN, Holm IA, Luquette LJ, Lyon E, Majzoub J, Neupert P, ... ... Majewski J, et al. An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. Genome Biology. 15: R53. PMID 24667040 DOI: 10.1186/Gb-2014-15-3-R53 |
0.335 |
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| 2014 |
Witkowski L, Carrot-Zhang J, Albrecht S, Fahiminiya S, Hamel N, Tomiak E, Grynspan D, Saloustros E, Nadaf J, Rivera B, Gilpin C, Castellsagué E, Silva-Smith R, Plourde F, Wu M, ... ... Majewski J, et al. Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type. Nature Genetics. 46: 438-43. PMID 24658002 DOI: 10.1038/Ng.2931 |
0.472 |
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| 2014 |
Fahiminiya S, Majewski J, Al-Jallad H, Moffatt P, Mort J, Glorieux FH, Roschger P, Klaushofer K, Rauch F. Osteoporosis Caused by Mutations in PLS3: Clinical and Bone Tissue Characteristics Journal of Bone and Mineral Research. 29: 1805-1814. PMID 24616189 DOI: 10.1002/Jbmr.2208 |
0.318 |
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| 2014 |
Srour M, Putorti ML, Schwartzentruber J, Bolduc V, Shevell MI, Poulin C, O'ferrall E, Buhas D, Majewski J, Brais B. Mutations in riboflavin transporter present with severe sensory loss and deafness in childhood. Muscle & Nerve. 50: 775-9. PMID 24616084 DOI: 10.1002/Mus.24224 |
0.367 |
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| 2014 |
McDonell LM, Warman Chardon J, Schwartzentruber J, Foster D, Beaulieu CL, Majewski J, Bulman DE, Boycott KM. The utility of exome sequencing for genetic diagnosis in a familial microcephaly epilepsy syndrome. Bmc Neurology. 14: 22. PMID 24479948 DOI: 10.1186/1471-2377-14-22 |
0.346 |
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| 2014 |
Sturm D, Bender S, Jones DT, Lichter P, Grill J, Becher O, Hawkins C, Majewski J, Jones C, Costello JF, Iavarone A, Aldape K, Brennan CW, Jabado N, Pfister SM. Paediatric and adult glioblastoma: multiform (epi)genomic culprits emerge. Nature Reviews. Cancer. 14: 92-107. PMID 24457416 DOI: 10.1038/Nrc3655 |
0.306 |
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| 2014 |
Shaheen R, Shamseldin HE, Loucks CM, Seidahmed MZ, Ansari S, Ibrahim Khalil M, Al-Yacoub N, Davis EE, Mola NA, Szymanska K, Herridge W, Chudley AE, Chodirker BN, Schwartzentruber J, Majewski J, et al. Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans. American Journal of Human Genetics. 94: 73-9. PMID 24360803 DOI: 10.1016/J.Ajhg.2013.11.010 |
0.483 |
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| 2014 |
Kleinman CL, Gerges N, Papillon-Cavanagh S, Sin-Chan P, Pramatarova A, Quang DA, Adoue V, Busche S, Caron M, Djambazian H, Bemmo A, Fontebasso AM, Spence T, Schwartzentruber J, Albrecht S, ... ... Majewski J, et al. Fusion of TTYH1 with the C19MC microRNA cluster drives expression of a brain-specific DNMT3B isoform in the embryonal brain tumor ETMR. Nature Genetics. 46: 39-44. PMID 24316981 DOI: 10.1038/Ng.2849 |
0.346 |
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| 2014 |
Eva MM, Yuki KE, Dauphinee SM, Schwartzentruber JA, Pyzik M, Paquet M, Lathrop M, Majewski J, Vidal SM, Malo D. Altered IFN-γ-mediated immunity and transcriptional expression patterns in N-Ethyl-N-nitrosourea-induced STAT4 mutants confer susceptibility to acute typhoid-like disease. Journal of Immunology (Baltimore, Md. : 1950). 192: 259-70. PMID 24285835 DOI: 10.4049/Jimmunol.1301370 |
0.34 |
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| 2014 |
Dyment DA, Sell E, Vanstone MR, Smith AC, Garandeau D, Garcia V, Carpentier S, Le Trionnaire E, Sabourdy F, Beaulieu CL, Schwartzentruber JA, McMillan HJ, Majewski J, Bulman DE, et al. Evidence for clinical, genetic and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsy. Clinical Genetics. 86: 558-63. PMID 24164096 DOI: 10.1111/Cge.12307 |
0.434 |
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| 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, ... Majewski J, et al. Exome sequencing as a diagnostic tool for pediatric-onset ataxia. Human Mutation. 35: 45-9. PMID 24108619 DOI: 10.1002/Humu.22451 |
0.426 |
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| 2014 |
Fahiminiya S, Almuriekhi M, Nawaz Z, Staffa A, Lepage P, Ali R, Hashim L, Schwartzentruber J, Abu Khadija K, Zaineddin S, Gamal H, Majewski J, Ben-Omran T. Whole exome sequencing unravels disease-causing genes in consanguineous families in Qatar Clinical Genetics. 86: 134-141. PMID 24102521 DOI: 10.1111/Cge.12280 |
0.463 |
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| 2014 |
Nikkel SM, Huang L, Lachman R, Beaulieu CL, Schwartzentruber J, Majewski J, Geraghty MT, Boycott KM. Whole-exome sequencing expands the phenotype of Hunter syndrome. Clinical Genetics. 86: 172-6. PMID 23844659 DOI: 10.1111/Cge.12236 |
0.38 |
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| 2014 |
Smith A, Grant R, Hall A, Alirezaie N, Holter S, Whelan T, Selander I, McPherson T, McPherson J, Omeroglu A, Majewski J, Foulkes W, Gallinger S, Zogopoulos G. Abstract 09: Contribution of known and novel BRCA-mediated DNA repair pathway genes to pancreatic cancer susceptibility Cancer Research. 74: 9-9. DOI: 10.1158/1538-7445.Cansusc14-09 |
0.48 |
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| 2014 |
Witkowski L, Carrot-Zhang J, Albrecht S, Hamel N, Tomiak E, Grynspan D, Saloustros E, Gilpin C, Silva-Smith R, Plourde F, Rivera B, Castellsagué E, Wu M, Fahiminiya S, Nadaf J, ... ... Majewski J, et al. Abstract LB-89: Germ-line and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type Cancer Research. 74. DOI: 10.1158/1538-7445.Am2014-Lb-89 |
0.472 |
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| 2013 |
Caignard G, Leiva-Torres GA, Leney-Greene M, Charbonneau B, Dumaine A, Fodil-Cornu N, Pyzik M, Cingolani P, Schwartzentruber J, Dupaul-Chicoine J, Guo H, Saleh M, Veillette A, Lathrop M, Blanchette M, ... Majewski J, et al. Genome-wide mouse mutagenesis reveals CD45-mediated T cell function as critical in protective immunity to HSV-1. Plos Pathogens. 9: e1003637. PMID 24068938 DOI: 10.1371/Journal.Ppat.1003637 |
0.406 |
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| 2013 |
Leary SC, Antonicka H, Sasarman F, Weraarpachai W, Cobine PA, Pan M, Brown GK, Brown R, Majewski J, Ha KC, Rahman S, Shoubridge EA. Novel mutations in SCO1 as a cause of fatal infantile encephalopathy and lactic acidosis. Human Mutation. 34: 1366-70. PMID 23878101 DOI: 10.1002/Humu.22385 |
0.4 |
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| 2013 |
Marcadier JL, Smith AM, Pohl D, Schwartzentruber J, Al-Dirbashi OY, Majewski J, Ferdinandusse S, Wanders RJ, Bulman DE, Boycott KM, Chakraborty P, Geraghty MT. Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria. Orphanet Journal of Rare Diseases. 8: 98. PMID 23835272 DOI: 10.1186/1750-1172-8-98 |
0.419 |
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| 2013 |
Jones DT, Hutter B, Jäger N, Korshunov A, Kool M, Warnatz HJ, Zichner T, Lambert SR, Ryzhova M, Quang DA, Fontebasso AM, Stütz AM, Hutter S, Zuckermann M, Sturm D, ... ... Majewski J, et al. Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytoma. Nature Genetics. 45: 927-32. PMID 23817572 DOI: 10.1038/Ng.2682 |
0.484 |
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| 2013 |
Dyment DA, Smith AC, Alcantara D, Schwartzentruber JA, Basel-Vanagaite L, Curry CJ, Temple IK, Reardon W, Mansour S, Haq MR, Gilbert R, Lehmann OJ, Vanstone MR, Beaulieu CL, ... Majewski J, et al. Mutations in PIK3R1 cause SHORT syndrome. American Journal of Human Genetics. 93: 158-66. PMID 23810382 DOI: 10.1016/J.Ajhg.2013.06.005 |
0.499 |
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| 2013 |
LeBlanc MA, Penney LS, Gaston D, Shi Y, Aberg E, Nightingale M, Jiang H, Gillett RM, Fahiminiya S, Macgillivray C, Wood EP, Acott PD, Khan MN, Samuels ME, Majewski J, et al. A novel rearrangement of occludin causes brain calcification and renal dysfunction. Human Genetics. 132: 1223-34. PMID 23793442 DOI: 10.1007/S00439-013-1327-Y |
0.485 |
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| 2013 |
Witkowski L, Lalonde E, Zhang J, Albrecht S, Hamel N, Cavallone L, May ST, Nicholson JC, Coleman N, Murray MJ, Tauber PF, Huntsman DG, Schönberger S, Yandell D, Hasselblatt M, ... ... Majewski J, et al. Familial rhabdoid tumour 'avant la lettre'--from pathology review to exome sequencing and back again. The Journal of Pathology. 231: 35-43. PMID 23775540 DOI: 10.1002/Path.4225 |
0.449 |
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| 2013 |
Coussa RG, Otto EA, Gee HY, Arthurs P, Ren H, Lopez I, Keser V, Fu Q, Faingold R, Khan A, Schwartzentruber J, Majewski J, Hildebrandt F, Koenekoop RK. WDR19: an ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome. Clinical Genetics. 84: 150-9. PMID 23683095 DOI: 10.1111/Cge.12196 |
0.431 |
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| 2013 |
Beaulieu CL, Huang L, Innes AM, Akimenko MA, Puffenberger EG, Schwartz C, Jerry P, Ober C, Hegele RA, McLeod DR, Schwartzentruber J, Majewski J, Bulman DE, Parboosingh JS, et al. Intellectual disability associated with a homozygous missense mutation in THOC6. Orphanet Journal of Rare Diseases. 8: 62. PMID 23621916 DOI: 10.1186/1750-1172-8-62 |
0.399 |
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| 2013 |
McDonell LM, Mirzaa GM, Alcantara D, Schwartzentruber J, Carter MT, Lee LJ, Clericuzio CL, Graham JM, Morris-Rosendahl DJ, Polster T, Acsadi G, Townshend S, Williams S, Halbert A, Isidor B, ... ... Majewski J, et al. Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome. Nature Genetics. 45: 556-62. PMID 23542699 DOI: 10.1038/Ng.2602 |
0.426 |
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| 2013 |
Shi Y, Majewski J. FishingCNV: a graphical software package for detecting rare copy number variations in exome-sequencing data. Bioinformatics. 29: 1461-1462. PMID 23539306 DOI: 10.1093/Bioinformatics/Btt151 |
0.307 |
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| 2013 |
Moshous D, Martin E, Carpentier W, Lim A, Callebaut I, Canioni D, Hauck F, Majewski J, Schwartzentruber J, Nitschke P, Sirvent N, Frange P, Picard C, Blanche S, Revy P, et al. Whole-exome sequencing identifies Coronin-1A deficiency in 3 siblings with immunodeficiency and EBV-associated B-cell lymphoproliferation. The Journal of Allergy and Clinical Immunology. 131: 1594-603. PMID 23522482 DOI: 10.1016/J.Jaci.2013.01.042 |
0.347 |
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| 2013 |
Zhang J, Shi Y, Lalonde E, Li L, Cavallone L, Ferenczy A, Gotlieb WH, Foulkes WD, Majewski J. Exome profiling of primary, metastatic and recurrent ovarian carcinomas in a BRCA1-positive patient Bmc Cancer. 13: 146-146. PMID 23522120 DOI: 10.1186/1471-2407-13-146 |
0.417 |
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| 2013 |
Fahiminiya S, Majewski J, Mort J, Moffatt P, Glorieux FH, Rauch F. Mutations in WNT1 are a cause of osteogenesis imperfecta Journal of Medical Genetics. 50: 345-348. PMID 23434763 DOI: 10.1136/Jmedgenet-2013-101567 |
0.46 |
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| 2013 |
Gupta IR, Baldwin C, Auguste D, Ha KC, El Andalousi J, Fahiminiya S, Bitzan M, Bernard C, Akbari MR, Narod SA, Rosenblatt DS, Majewski J, Takano T. ARHGDIA: a novel gene implicated in nephrotic syndrome. Journal of Medical Genetics. 50: 330-8. PMID 23434736 DOI: 10.1136/Jmedgenet-2012-101442 |
0.469 |
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| 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 |
0.463 |
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| 2013 |
Fontebasso AM, Schwartzentruber J, Khuong-Quang DA, Liu XY, Sturm D, Korshunov A, Jones DT, Witt H, Kool M, Albrecht S, Fleming A, Hadjadj D, Busche S, Lepage P, Montpetit A, ... ... Majewski J, et al. Mutations in SETD2 and genes affecting histone H3K36 methylation target hemispheric high-grade gliomas. Acta Neuropathologica. 125: 659-69. PMID 23417712 DOI: 10.1007/S00401-013-1095-8 |
0.508 |
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| 2013 |
Rødahl E, Knappskog PM, Majewski J, Johansson S, Telstad W, Kråkenes J, Boman H. Variants of anterior segment dysgenesis and cerebral involvement in a large family with a novel COL4A1 mutation. American Journal of Ophthalmology. 155: 946-53. PMID 23394911 DOI: 10.1016/J.Ajo.2012.11.028 |
0.413 |
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| 2013 |
Prasad C, Melançon SB, Rupar CA, Prasad AN, Nunez LD, Rosenblatt DS, Majewski J. Exome sequencing reveals a homozygous mutation in TWINKLE as the cause of multisystemic failure including renal tubulopathy in three siblings. Molecular Genetics and Metabolism. 108: 190-4. PMID 23375728 DOI: 10.1016/J.Ymgme.2012.12.007 |
0.467 |
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| 2013 |
Khuong-Quang DA, Schwartzentruber J, Westerman M, Lepage P, Finberg KE, Majewski J, Jabado N. Iron refractory iron deficiency anemia: presentation with hyperferritinemia and response to oral iron therapy. Pediatrics. 131: e620-5. PMID 23319530 DOI: 10.1542/Peds.2012-1303 |
0.354 |
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| 2013 |
Samuels ME, Gallo-Payet N, Pinard S, Hasselmann C, Magne F, Patry L, Chouinard L, Schwartzentruber J, René P, Sawyer N, Bouvier M, Djemli A, Delvin E, Huot C, Eugene D, ... ... Majewski J, et al. Bioinactive ACTH causing glucocorticoid deficiency. The Journal of Clinical Endocrinology and Metabolism. 98: 736-42. PMID 23293326 DOI: 10.1210/Jc.2012-3199 |
0.446 |
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| 2013 |
Moffatt P, Ben Amor M, Glorieux FH, Roschger P, Klaushofer K, Schwartzentruber JA, Paterson AD, Hu P, Marshall C, Fahiminiya S, Majewski J, Beaulieu CL, Boycott KM, Rauch F. Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly is caused by a duplication in RUNX2. American Journal of Human Genetics. 92: 252-8. PMID 23290074 DOI: 10.1016/J.Ajhg.2012.12.001 |
0.423 |
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| 2013 |
Rauch F, Moffatt P, Cheung M, Roughley P, Lalic L, Lund AM, Ramirez N, Fahiminiya S, Majewski J, Glorieux FH. Osteogenesis imperfecta type V: marked phenotypic variability despite the presence of the IFITM5 c.−14C>T mutation in all patients Journal of Medical Genetics. 50: 21-24. PMID 23240094 DOI: 10.1136/Jmedgenet-2012-101307 |
0.389 |
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| 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, ... ... Majewski J, 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 |
0.463 |
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| 2013 |
Hasselmann C, Deladoëy J, Vuissoz J, Patry L, Alirezaie N, Schwartzentruber J, Deal CL, Vliet GV, Majewski J, Samuels ME. Expanding the Phenotypic Spectrum of Nicotinamide Nucleotide Transhydrogenase (NNT) Mutations and using Whole Exome Sequencing to Discover Potential Disease Modifiers Journal of Genomes and Exomes. 2013: 19-30. DOI: 10.4137/Jge.S11378 |
0.492 |
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| 2013 |
Aguilar-Mahecha A, Przybytkowski E, Ahmadzadeh E, Lafleur J, Alirezaie N, Mihalcioiu C, Robidoux A, Roy J, Majewski J, Basik M. 29Pgenomic Analysis Of Drug Resistant Triple Negative Breast Cancers: A Translational Biopsy Study Annals of Oncology. 24. DOI: 10.1093/Annonc/Mdt082.1 |
0.356 |
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| 2012 |
McMillan HJ, Worthylake T, Schwartzentruber J, Gottlieb CC, Lawrence SE, Mackenzie A, Beaulieu CL, Mooyer PA, Wanders RJ, Majewski J, Bulman DE, Geraghty MT, Ferdinandusse S, Boycott KM. Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency. Orphanet Journal of Rare Diseases. 7: 90. PMID 23181892 DOI: 10.1186/1750-1172-7-90 |
0.32 |
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| 2012 |
Kim JC, Lee NC, Hwu PW, Chien YH, Fahiminiya S, Majewski J, Watkins D, Rosenblatt DS. Late onset of symptoms in an atypical patient with the cblJ inborn error of vitamin B12 metabolism: diagnosis and novel mutation revealed by exome sequencing. Molecular Genetics and Metabolism. 107: 664-8. PMID 23141461 DOI: 10.1016/J.Ymgme.2012.10.005 |
0.444 |
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| 2012 |
Sturm D, Witt H, Hovestadt V, Khuong-Quang DA, Jones DT, Konermann C, Pfaff E, Tönjes M, Sill M, Bender S, Kool M, Zapatka M, Becker N, Zucknick M, Hielscher T, ... ... Majewski J, et al. Hotspot mutations in H3F3A and IDH1 define distinct epigenetic and biological subgroups of glioblastoma. Cancer Cell. 22: 425-37. PMID 23079654 DOI: 10.1016/J.Ccr.2012.08.024 |
0.496 |
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| 2012 |
Janer A, Antonicka H, Lalonde E, Nishimura T, Sasarman F, Brown GK, Brown RM, Majewski J, Shoubridge EA. An RMND1 Mutation causes encephalopathy associated with multiple oxidative phosphorylation complex deficiencies and a mitochondrial translation defect. American Journal of Human Genetics. 91: 737-43. PMID 23022098 DOI: 10.1016/J.Ajhg.2012.08.020 |
0.371 |
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| 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, ... ... Majewski J, 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 |
0.49 |
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| 2012 |
Coelho D, Kim JC, Miousse IR, Fung S, du Moulin M, Buers I, Suormala T, Burda P, Frapolli M, Stucki M, Nürnberg P, Thiele H, Robenek H, Höhne W, Longo N, ... ... Majewski J, et al. Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism. Nature Genetics. 44: 1152-5. PMID 22922874 DOI: 10.1038/Ng.2386 |
0.379 |
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| 2012 |
Liu XY, Gerges N, Korshunov A, Sabha N, Khuong-Quang DA, Fontebasso AM, Fleming A, Hadjadj D, Schwartzentruber J, Majewski J, Dong Z, Siegel P, Albrecht S, Croul S, Jones DT, et al. Frequent ATRX mutations and loss of expression in adult diffuse astrocytic tumors carrying IDH1/IDH2 and TP53 mutations. Acta Neuropathologica. 124: 615-25. PMID 22886134 DOI: 10.1007/S00401-012-1031-3 |
0.457 |
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| 2012 |
Koenekoop RK, Wang H, Majewski J, Wang X, Lopez I, Ren H, Chen Y, Li Y, Fishman GA, Genead M, Schwartzentruber J, Solanki N, Traboulsi EI, Cheng J, Logan CV, et al. Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration. Nature Genetics. 44: 1035-9. PMID 22842230 DOI: 10.1038/Ng.2356 |
0.46 |
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| 2012 |
Kleinman CL, Adoue V, Majewski J. RNA editing of protein sequences: A rare event in human transcriptomes Rna. 18: 1586-1596. PMID 22832026 DOI: 10.1261/Rna.033233.112 |
0.312 |
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| 2012 |
Rivière JB, Mirzaa GM, O'Roak BJ, Beddaoui M, Alcantara D, Conway RL, St-Onge J, Schwartzentruber JA, Gripp KW, Nikkel SM, Worthylake T, Sullivan CT, Ward TR, Butler HE, Kramer NA, ... ... Majewski J, et al. De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. Nature Genetics. 44: 934-40. PMID 22729224 DOI: 10.1038/Ng.2331 |
0.483 |
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| 2012 |
Khuong-Quang DA, Buczkowicz P, Rakopoulos P, Liu XY, Fontebasso AM, Bouffet E, Bartels U, Albrecht S, Schwartzentruber J, Letourneau L, Bourgey M, Bourque G, Montpetit A, Bourret G, Lepage P, ... ... Majewski J, et al. K27M mutation in histone H3.3 defines clinically and biologically distinct subgroups of pediatric diffuse intrinsic pontine gliomas. Acta Neuropathologica. 124: 439-47. PMID 22661320 DOI: 10.1007/S00401-012-0998-0 |
0.426 |
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| 2012 |
Bernier FP, Caluseriu O, Ng S, Schwartzentruber J, Buckingham KJ, Innes AM, Jabs EW, Innis JW, Schuette JL, Gorski JL, Byers PH, Andelfinger G, Siu V, Lauzon J, Fernandez BA, ... ... Majewski J, et al. Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome. American Journal of Human Genetics. 90: 925-33. PMID 22541558 DOI: 10.1016/J.Ajhg.2012.04.004 |
0.434 |
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| 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, ... ... Majewski J, 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 |
0.455 |
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| 2012 |
Majewski J, Rosenblatt DS. Exome and whole-genome sequencing for gene discovery: the future is now! Human Mutation. 33: 591-2. PMID 22411407 DOI: 10.1002/Humu.22055 |
0.311 |
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| 2012 |
Lines MA, Huang L, Schwartzentruber J, Douglas SL, Lynch DC, Beaulieu C, Guion-Almeida ML, Zechi-Ceide RM, Gener B, Gillessen-Kaesbach G, Nava C, Baujat G, Horn D, Kini U, Caliebe A, ... ... Majewski J, et al. Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly. American Journal of Human Genetics. 90: 369-77. PMID 22305528 DOI: 10.1016/J.Ajhg.2011.12.023 |
0.462 |
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| 2012 |
Schwartzentruber J, Korshunov A, Liu XY, Jones DT, Pfaff E, Jacob K, Sturm D, Fontebasso AM, Quang DA, Tönjes M, Hovestadt V, Albrecht S, Kool M, Nantel A, Konermann C, ... ... Majewski J, et al. Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma. Nature. 482: 226-31. PMID 22286061 DOI: 10.1038/Nature10833 |
0.487 |
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| 2012 |
Hood RL, Lines MA, Nikkel SM, Schwartzentruber J, Beaulieu C, Nowaczyk MJ, Allanson J, Kim CA, Wieczorek D, Moilanen JS, Lacombe D, Gillessen-Kaesbach G, Whiteford ML, Quaio CR, Gomy I, ... ... Majewski J, et al. Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome. American Journal of Human Genetics. 90: 308-13. PMID 22265015 DOI: 10.1016/J.Ajhg.2011.12.001 |
0.478 |
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| 2012 |
Campeau PM, Kim JC, Lu JT, Schwartzentruber JA, Abdul-Rahman OA, Schlaubitz S, Murdock DM, Jiang MM, Lammer EJ, Enns GM, Rhead WJ, Rowland J, Robertson SP, Cormier-Daire V, Bainbridge MN, ... ... Majewski J, et al. Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome. American Journal of Human Genetics. 90: 282-9. PMID 22265014 DOI: 10.1016/J.Ajhg.2011.11.023 |
0.472 |
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| 2012 |
Schwartzentruber J, Korshunov A, Liu X, Jones DTW, Pfaff E, Jacob K, Sturm D, Fontebasso AM, Quang DK, Tönjes M, Hovestadt V, Albrecht S, Kool M, Nantel A, Konermann C, ... ... Majewski J, et al. Erratum: Corrigendum: Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma Nature. 484: 130-130. DOI: 10.1038/Nature11026 |
0.398 |
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| 2011 |
Ha KC, Lalonde E, Li L, Cavallone L, Natrajan R, Lambros MB, Mitsopoulos C, Hakas J, Kozarewa I, Fenwick K, Lord CJ, Ashworth A, Vincent-Salomon A, Basik M, Reis-Filho JS, ... Majewski J, et al. Identification of gene fusion transcripts by transcriptome sequencing in BRCA1-mutated breast cancers and cell lines. Bmc Medical Genomics. 4: 75. PMID 22032724 DOI: 10.1186/1755-8794-4-75 |
0.338 |
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| 2011 |
Majewski J, Wang Z, Lopez I, Al Humaid S, Ren H, Racine J, Bazinet A, Mitchel G, Braverman N, Koenekoop RK. A new ocular phenotype associated with an unexpected but known systemic disorder and mutation: novel use of genomic diagnostics and exome sequencing. Journal of Medical Genetics. 48: 593-6. PMID 21862673 DOI: 10.1136/jmedgenet-2011-100288 |
0.301 |
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| 2011 |
Watkins D, Schwartzentruber JA, Ganesh J, Orange JS, Kaplan BS, Nunez LD, Majewski J, Rosenblatt DS. Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single proband. Journal of Medical Genetics. 48: 590-2. PMID 21813566 DOI: 10.1136/Jmedgenet-2011-100286 |
0.49 |
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| 2011 |
Alfares A, Nunez LD, Al-Thihli K, Mitchell J, Melançon S, Anastasio N, Ha KC, Majewski J, Rosenblatt DS, Braverman N. Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype. Journal of Medical Genetics. 48: 602-5. PMID 21785126 DOI: 10.1136/Jmedgenet-2011-100230 |
0.433 |
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| 2011 |
Majewski J, Schwartzentruber J, Lalonde E, Montpetit A, Jabado N. What can exome sequencing do for you? Journal of Medical Genetics. 48: 580-9. PMID 21730106 DOI: 10.1136/Jmedgenet-2011-100223 |
0.342 |
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| 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 |
0.477 |
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| 2011 |
Majewski J, Pastinen T. The study of eQTL variations by RNA-seq: from SNPs to phenotypes Trends in Genetics. 27: 72-79. PMID 21122937 DOI: 10.1016/J.Tig.2010.10.006 |
0.314 |
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| 2010 |
Anastasio N, Ben-Omran T, Teebi A, Ha KC, Lalonde E, Ali R, Almureikhi M, Der Kaloustian VM, Liu J, Rosenblatt DS, Majewski J, Jerome-Majewska LA. Mutations in SCARF2 are responsible for Van Den Ende-Gupta syndrome. American Journal of Human Genetics. 87: 553-9. PMID 20887961 DOI: 10.1016/J.Ajhg.2010.09.005 |
0.418 |
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| 2010 |
Bemmo A, Dias C, Rose AA, Russo C, Siegel P, Majewski J. Exon-level transcriptome profiling in murine breast cancer reveals splicing changes specific to tumors with different metastatic abilities. Plos One. 5: e11981. PMID 20700505 DOI: 10.1371/Journal.Pone.0011981 |
0.362 |
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| 2010 |
Revil T, Gaffney D, Dias C, Majewski J, Jerome-Majewska LA. Alternative splicing is frequent during early embryonic development in mouse. Bmc Genomics. 11: 399. PMID 20573213 DOI: 10.1186/1471-2164-11-399 |
0.314 |
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| 2010 |
Lalonde E, Albrecht S, Ha KCH, Jacob K, Bolduc N, Polychronakos C, Dechelotte P, Majewski J, Jabado N. Unexpected allelic heterogeneity and spectrum of mutations in Fowler syndrome revealed by next‐generation exome sequencing Human Mutation. 31: 918-923. PMID 20518025 DOI: 10.1002/Humu.21293 |
0.504 |
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| 2009 |
Coulombe-Huntington J, Lam KC, Dias C, Majewski J. Fine-scale variation and genetic determinants of alternative splicing across individuals. Plos Genetics. 5: e1000766. PMID 20011102 DOI: 10.1371/Journal.Pgen.1000766 |
0.351 |
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| 2009 |
Kwan T, Grundberg E, Koka V, Ge B, Lam KC, Dias C, Kindmark A, Mallmin H, Ljunggren O, Rivadeneira F, Estrada K, van Meurs JB, Uitterlinden A, Karlsson M, Ohlsson C, ... ... Majewski J, et al. Tissue effect on genetic control of transcript isoform variation. Plos Genetics. 5: e1000608. PMID 19680542 DOI: 10.1371/Journal.Pgen.1000608 |
0.348 |
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| 2009 |
Fiskerstrand T, Knappskog P, Majewski J, Wanders RJ, Boman H, Bindoff LA. A novel Refsum-like disorder that maps to chromosome 20 Neurology. 72: 20-27. PMID 19005174 DOI: 10.1212/01.Wnl.0000333664.90605.23 |
0.371 |
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| 2008 |
Gaffney DJ, Blekhman R, Majewski J. Selective constraints in experimentally defined primate regulatory regions. Plos Genetics. 4: e1000157. PMID 18704158 DOI: 10.1371/Journal.Pgen.1000157 |
0.435 |
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| 2008 |
Kwan T, Benovoy D, Dias C, Gurd S, Provencher C, Beaulieu P, Hudson TJ, Sladek R, Majewski J. Genome-wide analysis of transcript isoform variation in humans. Nature Genetics. 40: 225-31. PMID 18193047 DOI: 10.1038/Ng.2007.57 |
0.337 |
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| 2007 |
Coulombe-Huntington J, Majewski J. Intron Loss and Gain in Drosophila Molecular Biology and Evolution. 24: 2842-2850. PMID 17965454 DOI: 10.1093/Molbev/Msm235 |
0.317 |
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| 2007 |
Kwan T, Benovoy D, Dias C, Gurd S, Serre D, Zuzan H, Clark TA, Schweitzer A, Staples MK, Wang H, Blume JE, Hudson TJ, Sladek R, Majewski J. Heritability of alternative splicing in the human genome. Genome Research. 17: 1210-8. PMID 17671095 DOI: 10.1101/Gr.6281007 |
0.385 |
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| 2006 |
Coulombe-Huntington J, Majewski J. Characterization of intron loss events in mammals Genome Research. 17: 23-32. PMID 17108319 DOI: 10.1101/Gr.5703406 |
0.346 |
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| 2006 |
Hrebícek M, Mrázová L, Seyrantepe V, Durand S, Roslin NM, Nosková L, Hartmannová H, Ivánek R, Cízkova A, Poupetová H, Sikora J, Urinovská J, Stranecký V, Zeman J, Lepage P, ... ... Majewski J, et al. Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome). American Journal of Human Genetics. 79: 807-19. PMID 17033958 DOI: 10.1086/508294 |
0.468 |
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| 2006 |
Vylet'al P, Kublová M, Kalbácová M, Hodanová K, Baresová V, Stib?rková B, Sikora J, H?lková H, Zivný J, Majewski J, Simmonds A, Fryns JP, Venkat-Raman G, Elleder M, Kmoch S. Alterations of uromodulin biology: a common denominator of the genetically heterogeneous FJHN/MCKD syndrome. Kidney International. 70: 1155-69. PMID 16883323 DOI: 10.1038/Sj.Ki.5001728 |
0.408 |
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| 2005 |
Hodaňová K, Majewski J, Kublová M, Vyleťal P, Kalbáčová M, Stibůrková B, Hůlková H, Chagnon YC, Lanouette C, Marinaki A, Fryns J, Venkat-Raman G, Kmoch S. Mapping of a new candidate locus for uromodulin-associated kidney disease (UAKD) to chromosome 1q41. Kidney International. 68: 1472-1482. PMID 16164624 DOI: 10.1111/J.1523-1755.2005.00560.X |
0.355 |
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| 2005 |
Francis PJ, Schultz DW, Gregory AM, Schain MB, Barra R, Majewski J, Ott J, Acott T, Weleber RG, Klein ML. Genetic and phenotypic heterogeneity in pattern dystrophy. The British Journal of Ophthalmology. 89: 1115-9. PMID 16113362 DOI: 10.1136/Bjo.2004.062695 |
0.348 |
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| 2005 |
Schultz DW, Weleber RG, Lawrence G, Barral S, Majewski J, Acott TS, Klein ML. HEMICENTIN-1 (FIBULIN-6) and the 1q31 AMD locus in the context of complex disease: review and perspective. Ophthalmic Genetics. 26: 101-5. PMID 16020313 DOI: 10.1080/13816810590968023 |
0.366 |
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| 2005 |
Fisher SA, Abecasis GR, Yashar BM, Zareparsi S, Swaroop A, Iyengar SK, Klein BE, Klein R, Lee KE, Majewski J, Schultz DW, Klein ML, Seddon JM, Santangelo SL, Weeks DE, et al. Meta-analysis of genome scans of age-related macular degeneration. Human Molecular Genetics. 14: 2257-64. PMID 15987700 DOI: 10.1093/Hmg/Ddi230 |
0.309 |
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| 2005 |
Bredrup C, Knappskog PM, Majewski J, Rødahl E, Boman H. Congenital stromal dystrophy of the cornea caused by a mutation in the decorin gene. Investigative Ophthalmology & Visual Science. 46: 420-426. PMID 15671264 DOI: 10.1167/Iovs.04-0804 |
0.421 |
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| 2003 |
Louie E, Ott J, Majewski J. Nucleotide frequency variation across human genes. Genome Research. 13: 2594-601. PMID 14613976 DOI: 10.1101/Gr.1317703 |
0.411 |
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| 2003 |
Majewski J, Schultz DW, Weleber RG, Schain MB, Edwards AO, Matise TC, Acott TS, Ott J, Klein ML. Age-related macular degeneration--a genome scan in extended families. American Journal of Human Genetics. 73: 540-50. PMID 12900797 DOI: 10.1086/377701 |
0.319 |
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| 2003 |
Majewski J. Dependence of mutational asymmetry on gene-expression levels in the human genome. American Journal of Human Genetics. 73: 688-692. PMID 12881777 DOI: 10.1086/378134 |
0.419 |
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| 2003 |
Stib?rková B, Majewski J, Hodanová K, Ondrová L, Jerábková M, Zikánová M, Vylet'al P, Sebesta I, Marinaki A, Simmonds A, Matthijs G, Fryns JP, Torres R, Puig JG, Ott J, et al. Familial juvenile hyperuricaemic nephropathy (FJHN): linkage analysis in 15 families, physical and transcriptional characterisation of the FJHN critical region on chromosome 16p11.2 and the analysis of seven candidate genes. European Journal of Human Genetics : Ejhg. 11: 145-54. PMID 12634862 DOI: 10.1038/Sj.Ejhg.5200937 |
0.375 |
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| 2002 |
Knappskog PM, Majewski J, Livneh A, Nilsen PT, Bringsli JS, Ott J, Boman H. Cold-induced sweating syndrome is caused by mutations in the CRLF1 gene. American Journal of Human Genetics. 72: 375-83. PMID 12509788 DOI: 10.1086/346120 |
0.406 |
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| 2002 |
Majewski J, Ott J. Distribution and Characterization of Regulatory Elements in the Human Genome Genome Research. 12: 1827-1836. PMID 12466286 DOI: 10.1101/Gr.606402 |
0.332 |
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| 2000 |
Stibůrková B, Majewski J, Sebesta I, Zhang W, Ott J, Kmoch S. Familial juvenile hyperuricemic nephropathy: localization of the gene on chromosome 16p11.2-and evidence for genetic heterogeneity. American Journal of Human Genetics. 66: 1989-94. PMID 10780922 DOI: 10.1086/302936 |
0.329 |
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