Genetics of multiple sclerosis DA Dyment, GC Ebers, AD Sadovnick The Lancet Neurology 3 (2), 104-110, 2004 | 880 | 2004 |
Twin concordance and sibling recurrence rates in multiple sclerosis CJ Willer, DA Dyment, NJ Risch, AD Sadovnick, GC Ebers, ... Proceedings of the National Academy of Sciences 100 (22), 12877-12882, 2003 | 852 | 2003 |
Expression of the Multiple Sclerosis-Associated MHC Class II Allele HLA-DRB1*1501 Is Regulated by Vitamin D SV Ramagopalan, NJ Maugeri, L Handunnetthi, MR Lincoln, SM Orton, ... PLoS genetics 5 (2), e1000369, 2009 | 707 | 2009 |
Timing of birth and risk of multiple sclerosis: population based study CJ Willer, DA Dyment, AD Sadovnick, PM Rothwell, TJ Murray, GC Ebers Bmj 330 (7483), 120, 2005 | 670 | 2005 |
Evidence for genetic basis of multiple sclerosis AD Sadovnick, DA Dyment, GC Ebers, NJ Risch, ... The Lancet 347 (9017), 1728-1730, 1996 | 497 | 1996 |
Utility of whole‐exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care SL Sawyer, T Hartley, DA Dyment, CL Beaulieu, J Schwartzentruber, ... Clinical genetics 89 (3), 275-284, 2016 | 453 | 2016 |
A predominant role for the HLA class II region in the association of the MHC region with multiple sclerosis MR Lincoln, A Montpetit, MZ Cader, J Saarela, DA Dyment, M Tiislar, ... Nature genetics 37 (10), 1108-1112, 2005 | 435 | 2005 |
Parent-of-origin effect in multiple sclerosis: observations in half-siblings GC Ebers, AD Sadovnick, DA Dyment, IML Yee, CJ Willer, N Risch The Lancet 363 (9423), 1773-1774, 2004 | 367 | 2004 |
Biallelic Mutations in BRCA1 Cause a New Fanconi Anemia Subtype SL Sawyer, L Tian, M Kähkönen, J Schwartzentruber, M Kircher, ... Cancer discovery 5 (2), 135-142, 2015 | 316 | 2015 |
Rare variants in the CYP27B1 gene are associated with multiple sclerosis SV Ramagopalan, DA Dyment, MZ Cader, KM Morrison, G Disanto, ... Annals of neurology 70 (6), 881-886, 2011 | 301 | 2011 |
Complex interactions among MHC haplotypes in multiple sclerosis: susceptibility and resistance DA Dyment, BM Herrera, MZ Cader, CJ Willer, MR Lincoln, AD Sadovnick, ... Human molecular genetics 14 (14), 2019-2026, 2005 | 301 | 2005 |
FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project CL Beaulieu, J Majewski, J Schwartzentruber, ME Samuels, ... The American Journal of Human Genetics 94 (6), 809-817, 2014 | 288 | 2014 |
XRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxia NC Hoch, H Hanzlikova, SL Rulten, M Tétreault, E Komulainen, L Ju, ... Nature 541 (7635), 87-91, 2017 | 269 | 2017 |
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders V Salpietro, CL Dixon, H Guo, OD Bello, J Vandrovcova, S Efthymiou, ... Nature communications 10 (1), 3094, 2019 | 227 | 2019 |
Genetics of multiple sclerosis DA Dyment, AD Sadnovich, GC Ebers Human Molecular Genetics 6 (10), 1693-1698, 1997 | 215 | 1997 |
Epistasis among HLA-DRB1, HLA-DQA1, and HLA-DQB1 loci determines multiple sclerosis susceptibility MR Lincoln, SV Ramagopalan, MJ Chao, BM Herrera, GC DeLuca, ... Proceedings of the National Academy of Sciences 106 (18), 7542-7547, 2009 | 199 | 2009 |
The inheritance of resistance alleles in multiple sclerosis SV Ramagopalan, AP Morris, DA Dyment, BM Herrera, GC DeLuca, ... PLoS genetics 3 (9), e150, 2007 | 199 | 2007 |
Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked … FJ Kaiser, M Ansari, D Braunholz, M Concepción Gil-Rodríguez, ... Human molecular genetics 23 (11), 2888-2900, 2014 | 190 | 2014 |
Monogenic variants in dystonia: an exome-wide sequencing study M Zech, R Jech, S Boesch, M Škorvánek, S Weber, M Wagner, C Zhao, ... The Lancet Neurology 19 (11), 908-918, 2020 | 188 | 2020 |
Mutations in PIK3R1 cause SHORT syndrome DA Dyment, AC Smith, D Alcantara, JA Schwartzentruber, ... The American Journal of Human Genetics 93 (1), 158-166, 2013 | 188 | 2013 |