|An expanded view of complex traits: from polygenic to omnigenic|
EA Boyle, YI Li, JK Pritchard
Cell 169 (7), 1177-1186, 2017
|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
|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, 5595, 2014
|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, 2015
|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
|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
|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, 2017
|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
|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
|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
|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), 1-8, 2017
|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
|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
|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
|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
|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
|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 (12), 530, 2014
|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
|KIAA0586 is Mutated in Joubert Syndrome|
R Bachmann‐Gagescu, IG Phelps, JC Dempsey, VA Sharma, GE Ishak, ...
Human mutation 36 (9), 831-835, 2015
|Multiplex homology-directed repair|
J Shendure, E Boyle, G Findlay
US Patent App. 14/818,217, 2016