An integrated map of genetic variation from 1,092 human genomes 1000 Genomes Project Consortium Nature 491 (7422), 56, 2012 | 8528 | 2012 |
Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder D Demontis, RK Walters, J Martin, M Mattheisen, TD Als, E Agerbo, ... Nature genetics 51 (1), 63-75, 2019 | 2270 | 2019 |
Identification of common genetic risk variants for autism spectrum disorder J Grove, S Ripke, TD Als, M Mattheisen, RK Walters, H Won, J Pallesen, ... Nature genetics 51 (3), 431-444, 2019 | 2094 | 2019 |
Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism FK Satterstrom, JA Kosmicki, J Wang, MS Breen, S De Rubeis, JY An, ... Cell 180 (3), 568-584. e23, 2020 | 1944 | 2020 |
Genome-wide association study identifies 30 loci associated with bipolar disorder EA Stahl, G Breen, AJ Forstner, A McQuillin, S Ripke, V Trubetskoy, ... Nature genetics 51 (5), 793-803, 2019 | 1483 | 2019 |
Analysis of shared heritability in common disorders of the brain Brainstorm Consortium, V Anttila, B Bulik-Sullivan, HK Finucane, ... Science 360 (6395), eaap8757, 2018 | 1454 | 2018 |
Genomic relationships, novel loci, and pleiotropic mechanisms across eight psychiatric disorders PH Lee, V Anttila, H Won, YCA Feng, J Rosenthal, Z Zhu, EM Tucker-Drob, ... Cell 179 (7), 1469-1482. e11, 2019 | 1149 | 2019 |
Mapping the human genetic architecture of COVID-19 Writing group Writing group leaders Pathak Gita A. 6 Andrews Shea J. 7 Kanai ... Nature 600 (7889), 472-477, 2021 | 805 | 2021 |
Sequence variants in SLC16A11 are a common risk factor for type 2 diabetes in Mexico AL Williams, SBR Jacobs, H Moreno-Macías, A Huerta-Chagoya, ... Nature 506 (7486), 97-101, 2014 | 573 | 2014 |
Rare coding variants in ten genes confer substantial risk for schizophrenia T Singh, T Poterba, D Curtis, H Akil, M Al Eissa, JD Barchas, N Bass, ... Nature 604 (7906), 509-516, 2022 | 560 | 2022 |
Integrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel O Delaneau, J Marchini Nature communications 5 (1), 3934, 2014 | 458 | 2014 |
Integrative annotation of variants from 1092 humans: application to cancer genomics E Khurana, Y Fu, V Colonna, XJ Mu, HM Kang, T Lappalainen, A Sboner, ... Science 342 (6154), 1235587, 2013 | 425 | 2013 |
Whole-genome sequencing reveals host factors underlying critical COVID-19 A Kousathanas, E Pairo-Castineira, K Rawlik, A Stuckey, CA Odhams, ... Nature 607 (7917), 97-103, 2022 | 284 | 2022 |
Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals YCA Feng, DP Howrigan, LE Abbott, K Tashman, F Cerrato, T Singh, ... The American Journal of Human Genetics 105 (2), 267-282, 2019 | 261 | 2019 |
A genetic investigation of sex bias in the prevalence of attention-deficit/hyperactivity disorder J Martin, RK Walters, D Demontis, M Mattheisen, SH Lee, E Robinson, ... Biological psychiatry 83 (12), 1044-1053, 2018 | 193 | 2018 |
Rare variants in PPARG with decreased activity in adipocyte differentiation are associated with increased risk of type 2 diabetes AR Majithia, J Flannick, P Shahinian, M Guo, MA Bray, P Fontanillas, ... Proceedings of the National Academy of Sciences 111 (36), 13127-13132, 2014 | 181 | 2014 |
The genetics of the mood disorder spectrum: genome-wide association analyses of more than 185,000 cases and 439,000 controls JRI Coleman, HA Gaspar, J Bryois, EM Byrne, AJ Forstner, PA Holmans, ... Biological psychiatry 88 (2), 169-184, 2020 | 159 | 2020 |
Systematic single-variant and gene-based association testing of thousands of phenotypes in 394,841 UK Biobank exomes KJ Karczewski, M Solomonson, KR Chao, JK Goodrich, G Tiao, W Lu, ... Cell Genomics 2 (9), 2022 | 156 | 2022 |
Exome sequencing in schizophrenia-affected parent–offspring trios reveals risk conferred by protein-coding de novo mutations DP Howrigan, SA Rose, KE Samocha, M Fromer, F Cerrato, WJ Chen, ... Nature neuroscience 23 (2), 185-193, 2020 | 147 | 2020 |
Inherited myeloproliferative neoplasm risk affects haematopoietic stem cells EL Bao, SK Nandakumar, X Liao, AG Bick, J Karjalainen, M Tabaka, ... Nature 586 (7831), 769-775, 2020 | 121 | 2020 |