Host–microbe interactions have shaped the genetic architecture of inflammatory bowel disease L Jostins, S Ripke, RK Weersma, RH Duerr, DP McGovern, KY Hui, ... Nature 491 (7422), 119-124, 2012 | 5311 | 2012 |
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci A Franke, DPB McGovern, JC Barrett, K Wang, GL Radford-Smith, ... Nature genetics 42 (12), 1118-1125, 2010 | 3193 | 2010 |
Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations JZ Liu, S Van Sommeren, H Huang, SC Ng, R Alberts, A Takahashi, ... Nature genetics 47 (9), 979-986, 2015 | 2601 | 2015 |
Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47 CA Anderson, G Boucher, CW Lees, A Franke, M D'Amato, KD Taylor, ... Nature genetics 43 (3), 246-252, 2011 | 1739 | 2011 |
Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease KM De Lange, L Moutsianas, JC Lee, CA Lamb, Y Luo, NA Kennedy, ... Nature genetics 49 (2), 256-261, 2017 | 1322 | 2017 |
Polygenic risk scores for prediction of breast cancer and breast cancer subtypes N Mavaddat, K Michailidou, J Dennis, M Lush, L Fachal, A Lee, JP Tyrer, ... The American Journal of Human Genetics 104 (1), 21-34, 2019 | 987 | 2019 |
Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls Nature 464 (7289), 713-720, 2010 | 943 | 2010 |
Breast cancer risk genes—association analysis in more than 113,000 women Breast Cancer Association Consortium New England Journal of Medicine 384 (5), 428-439, 2021 | 724 | 2021 |
International IBD Genetics Consortium (IIBDGC). Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease L Jostins, S Ripke, RK Weersma, RH Duerr, DP McGovern, KY Hui, ... Nature 491 (7422), 119-124, 2012 | 636 | 2012 |
Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region Data and Analysis Group: Spencer Chris CA chris. spencer@ well. ox. ac. uk 5 ... Nature genetics 41 (12), 1330-1334, 2009 | 636 | 2009 |
100,000 genomes pilot on rare-disease diagnosis in health care—preliminary report 100,000 Genomes Project Pilot Investigators New England Journal of Medicine 385 (20), 1868-1880, 2021 | 442 | 2021 |
Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome G Rice, WG Newman, J Dean, T Patrick, R Parmar, K Flintoff, P Robins, ... The American Journal of Human Genetics 80 (4), 811-815, 2007 | 423 | 2007 |
Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses H Zhang, TU Ahearn, J Lecarpentier, D Barnes, J Beesley, G Qi, X Jiang, ... Nature genetics 52 (6), 572-581, 2020 | 355 | 2020 |
High-density mapping of the MHC identifies a shared role for HLA-DRB1* 01: 03 in inflammatory bowel diseases and heterozygous advantage in ulcerative colitis P Goyette, G Boucher, D Mallon, E Ellinghaus, L Jostins, H Huang, ... Nature genetics 47 (2), 172-179, 2015 | 347 | 2015 |
Analysis of T cell stimulation by superantigen plus major histocompatibility complex class II molecules or by CD3 monoclonal antibody: costimulation by purified adhesion … GA van Seventer, W Newman, Y Shimizu, TB Nutman, Y Tanaka, ... The Journal of experimental medicine 174 (4), 901-913, 1991 | 346 | 1991 |
Germline Mutations in SUFU Cause Gorlin Syndrome–Associated Childhood Medulloblastoma and Redefine the Risk Associated With PTCH1 Mutations MJ Smith, C Beetz, SG Williams, SS Bhaskar, J O'Sullivan, B Anderson, ... Journal of Clinical Oncology 32 (36), 4155-4161, 2014 | 316 | 2014 |
The genetic basis of DOORS syndrome: an exome-sequencing study PM Campeau, D Kasperaviciute, JT Lu, LC Burrage, C Kim, M Hori, ... The Lancet Neurology 13 (1), 44-58, 2014 | 293 | 2014 |
Psoriasis is associated with pleiotropic susceptibility loci identified in type II diabetes and Crohn disease N Wolf, M Quaranta, NJ Prescott, M Allen, R Smith, AD Burden, ... Journal of medical genetics 45 (2), 114-116, 2008 | 290* | 2008 |
Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer E Ruark, K Snape, P Humburg, C Loveday, I Bajrami, R Brough, ... Nature 493 (7432), 406-410, 2013 | 277 | 2013 |
Dominant mutations in the autoimmune regulator AIRE are associated with common organ-specific autoimmune diseases BE Oftedal, A Hellesen, MM Erichsen, E Bratland, A Vardi, J Perheentupa, ... Immunity 42 (6), 1185-1196, 2015 | 267 | 2015 |