Evan August Boyle
Evan August Boyle
Postdoctoral scholar, UC San Diego
Verified email at ucsd.edu
Title
Cited by
Cited by
Year
An expanded view of complex traits: from polygenic to omnigenic
EA Boyle, YI Li, JK Pritchard
Cell 169 (7), 1177-1186, 2017
10312017
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
2222014
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
2112014
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
2102015
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
1782016
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
1612015
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
1462017
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
1272016
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
1142015
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
1072015
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
982017
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
972014
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
812015
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
792017
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
742019
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
552016
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
502014
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
452015
KIAA0586 is Mutated in Joubert Syndrome
R Bachmann‐Gagescu, IG Phelps, JC Dempsey, VA Sharma, GE Ishak, ...
Human mutation 36 (9), 831-835, 2015
402015
Multiplex homology-directed repair
J Shendure, E Boyle, G Findlay
US Patent App. 14/818,217, 2016
372016
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