Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test. AC Lionel, G Costain, N Monfared, S Walker, MS Reuter, SM Hosseini, ... Genetics in medicine: official journal of the American College of Medical …, 2017 | 600 | 2017 |
Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia VJM Verhoeven, PG Hysi, R Wojciechowski, Q Fan, JA Guggenheim, ... Nature genetics 45 (3), 314-318, 2013 | 552 | 2013 |
Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error MS Tedja, R Wojciechowski, PG Hysi, N Eriksson, NA Furlotte, ... Nature genetics 50 (6), 834-848, 2018 | 345 | 2018 |
Reappraisal of reported genes for sudden arrhythmic death: evidence-based evaluation of gene validity for Brugada syndrome SM Hosseini, R Kim, S Udupa, G Costain, R Jobling, E Liston, SM Jamal, ... Circulation 138 (12), 1195-1205, 2018 | 336 | 2018 |
New susceptibility loci associated with kidney disease in type 1 diabetes N Sandholm, RM Salem, AJ McKnight, EP Brennan, C Forsblom, ... PLoS genetics 8 (9), e1002921, 2012 | 282 | 2012 |
Genome-wide association identifies the ABO blood group as a major locus associated with serum levels of soluble E-selectin AD Paterson, MF Lopes-Virella, D Waggott, AP Boright, SM Hosseini, ... Arteriosclerosis, thrombosis, and vascular biology 29 (11), 1958-1967, 2009 | 237 | 2009 |
Common genetic determinants of intraocular pressure and primary open-angle glaucoma LME van Koolwijk, WD Ramdas, MK Ikram, NM Jansonius, F Pasutto, ... PLoS genetics 8 (5), e1002611, 2012 | 217 | 2012 |
Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error CY Cheng, M Schache, MK Ikram, TL Young, JA Guggenheim, V Vitart, ... The American Journal of Human Genetics 93 (2), 264-277, 2013 | 189 | 2013 |
Meta-analysis of gene-environment-wide association scans accounting for education level identifies additional loci for refractive error Q Fan, VJM Verhoeven, R Wojciechowski, VA Barathi, PG Hysi, ... Nature Communications 7, 2016 | 151 | 2016 |
A genome-wide association study identifies a novel major locus for glycemic control in type 1 diabetes, as measured by both A1C and glucose AD Paterson, D Waggott, AP Boright, SM Hosseini, E Shen, MP Sylvestre, ... Diabetes 59 (2), 539-549, 2010 | 133 | 2010 |
Childhood gene-environment interactions and age-dependent effects of genetic variants associated with refractive error and myopia: The CREAM Consortium Q Fan, X Guo, JWL Tideman, KM Williams, SM Hosseini, LD Howe, ... Scientific reports 6 (1), 1-14, 2016 | 123 | 2016 |
CRYBA4, a novel human cataract gene, is also involved in microphthalmia G Billingsley, ST Santhiya, AD Paterson, K Ogata, S Wodak, SM Hosseini, ... The American Journal of Human Genetics 79 (4), 702-709, 2006 | 115 | 2006 |
Mutational spectrum of the ZEB1 gene in corneal dystrophies supports a genotype–phenotype correlation J Lechner, DP Dash, D Muszynska, M Hosseini, F Segev, S George, ... Investigative ophthalmology & visual science 54 (5), 3215-3223, 2013 | 86 | 2013 |
Haploinsufficiency of vascular endothelial growth factor related signaling genes is associated with tetralogy of Fallot MS Reuter, R Jobling, RR Chaturvedi, R Manshaei, G Costain, T Heung, ... Genetics in Medicine 21 (4), 1001-1007, 2019 | 84 | 2019 |
The Cardiac Genome Clinic: implementing genome sequencing in pediatric heart disease MS Reuter, RR Chaturvedi, E Liston, R Manshaei, RB Aul, S Bowdin, ... Genetics in Medicine 22 (6), 1015-1024, 2020 | 80 | 2020 |
The association of previously reported polymorphisms for microvascular complications in a meta-analysis of diabetic retinopathy SM Hosseini, AP Boright, L Sun, AJ Canty, SB Bull, BEK Klein, R Klein, ... Human genetics 134 (2), 247-257, 2015 | 77 | 2015 |
Meta-analysis of genome-wide association studies in five cohorts reveals common variants in RBFOX1, a regulator of tissue-specific splicing, associated with refractive error D Stambolian, R Wojciechowski, K Oexle, M Pirastu, X Li, LJ Raffel, ... Human molecular genetics 22 (13), 2754-2764, 2013 | 76 | 2013 |
Multiethnic genome-wide association study of diabetic retinopathy using liability threshold modeling of duration of diabetes and glycemic control S Pollack, RP Igo Jr, RA Jensen, M Christiansen, X Li, CY Cheng, ... Diabetes 68 (2), 441-456, 2019 | 70 | 2019 |
The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants MS Reuter, S Walker, B Thiruvahindrapuram, J Whitney, I Cohn, ... CMAJ 190 (5), E126-E136, 2018 | 68 | 2018 |
The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants MS Reuter, S Walker, B Thiruvahindrapuram, J Whitney, I Cohn, ... CMAJ 190 (5), E126-E136, 2018 | 68 | 2018 |