| An expanded view of complex traits: from polygenic to omnigenic EA Boyle, YI Li, JK Pritchard Cell 169 (7), 1177-1186, 2017 | 2894 | 2017 |
| Enhancer connectome in primary human cells identifies target genes of disease-associated DNA elements MR Mumbach, AT Satpathy, EA Boyle, C Dai, BG Gowen, SW Cho, ... Nature genetics 49 (11), 1602-1612, 2017 | 471 | 2017 |
| A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer RDA Weren, MJL Ligtenberg, CM Kets, RM De Voer, ETP Verwiel, ... Nature genetics 47 (6), 668-671, 2015 | 405 | 2015 |
| Saturation editing of genomic regions by multiplex homology-directed repair GM Findlay, EA Boyle, RJ Hause, JC Klein, J Shendure Nature 513 (7516), 120-123, 2014 | 404 | 2014 |
| Detection of human adaptation during the past 2000 years Y Field, EA Boyle, N Telis, Z Gao, KJ Gaulton, D Golan, L Yengo, ... Science 354 (6313), 760-764, 2016 | 395 | 2016 |
| Reduced signal for polygenic adaptation of height in UK Biobank JJ Berg, A Harpak, N Sinnott-Armstrong, AM Joergensen, H Mostafavi, ... Elife 8, e39725, 2019 | 361 | 2019 |
| Recurrent de novo mutations implicate novel genes underlying simplex autism risk BJ O'roak, HA Stessman, EA Boyle, KT Witherspoon, B Martin, C Lee, ... Nature communications 5 (1), 5595, 2014 | 360 | 2014 |
| Genome-scale measurement of off-target activity using Cas9 toxicity in high-throughput screens DW Morgens, M Wainberg, EA Boyle, O Ursu, CL Araya, CK Tsui, ... Nature communications 8 (1), 15178, 2017 | 359 | 2017 |
| Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia AM D'Gama, Y Geng, JA Couto, B Martin, EA Boyle, CM LaCoursiere, ... Annals of neurology 77 (4), 720-725, 2015 | 306 | 2015 |
| Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity R Bachmann-Gagescu, JC Dempsey, IG Phelps, BJ O'roak, DM Knutzen, ... Journal of medical genetics 52 (8), 514-522, 2015 | 279 | 2015 |
| Association of MTOR mutations with developmental brain disorders, including megalencephaly, focal cortical dysplasia, and pigmentary mosaicism GM Mirzaa, CD Campbell, N Solovieff, CP Goold, LA Jansen, S Menon, ... JAMA neurology 73 (7), 836-845, 2016 | 271 | 2016 |
| An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes G Wheway, M Schmidts, DA Mans, K Szymanska, TMT Nguyen, H Racher, ... Nature cell biology 17 (8), 1074-1087, 2015 | 256 | 2015 |
| High-throughput biochemical profiling reveals sequence determinants of dCas9 off-target binding and unbinding EA Boyle, JOL Andreasson, LM Chircus, SH Sternberg, MJ Wu, ... Proceedings of the National Academy of Sciences 114 (21), 5461-5466, 2017 | 215 | 2017 |
| Multiplex homology-directed repair J Shendure, E Boyle, G Findlay US Patent App. 14/818,217, 2016 | 203 | 2016 |
| MIPgen: optimized modeling and design of molecular inversion probes for targeted resequencing EA Boyle, BJ O’Roak, BK Martin, A Kumar, J Shendure Bioinformatics 30 (18), 2670-2672, 2014 | 183 | 2014 |
| Identification of phagocytosis regulators using magnetic genome-wide CRISPR screens MS Haney, CJ Bohlen, DW Morgens, JA Ousey, AA Barkal, CK Tsui, ... Nature genetics 50 (12), 1716-1727, 2018 | 165 | 2018 |
| PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution G Mirzaa, AE Timms, V Conti, EA Boyle, KM Girisha, B Martin, M Kircher, ... JCI insight 1 (9), 2016 | 165 | 2016 |
| De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay JX Chong, MJ McMillin, KM Shively, AE Beck, CT Marvin, JR Armenteros, ... The American Journal of Human Genetics 96 (3), 462-473, 2015 | 144 | 2015 |
| Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study GM Mirzaa, V Conti, AE Timms, CD Smyser, S Ahmed, M Carter, S Barnett, ... The Lancet Neurology 14 (12), 1182-1195, 2015 | 99 | 2015 |
| Deep sequencing of multiple regions of glial tumors reveals spatial heterogeneity for mutations in clinically relevant genes A Kumar, EA Boyle, M Tokita, AM Mikheev, MC Sanger, E Girard, ... Genome biology 15, 1-9, 2014 | 87 | 2014 |
