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Brian J. O'Roak
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A general framework for estimating the relative pathogenicity of human genetic variants
M Kircher, DM Witten, P Jain, BJ O'roak, GM Cooper, J Shendure
Nature genetics 46 (3), 310-315, 2014
52322014
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
BJ O’Roak, L Vives, S Girirajan, E Karakoc, N Krumm, BP Coe, R Levy, ...
Nature 485 (7397), 246-250, 2012
22002012
The contribution of de novo coding mutations to autism spectrum disorder
I Iossifov, BJ O’roak, SJ Sanders, M Ronemus, N Krumm, D Levy, ...
Nature 515 (7526), 216-221, 2014
21482014
Multiple recurrent de novo CNVs, including duplications of the 7q11. 23 Williams syndrome region, are strongly associated with autism
SJ Sanders, AG Ercan-Sencicek, V Hus, R Luo, MT Murtha, ...
Neuron 70 (5), 863-885, 2011
13712011
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations
BJ O'Roak, P Deriziotis, C Lee, L Vives, JJ Schwartz, S Girirajan, ...
Nature genetics 43 (6), 585-589, 2011
13362011
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders
BJ O’Roak, L Vives, W Fu, JD Egertson, IB Stanaway, IG Phelps, G Carvill, ...
Science 338 (6114), 1619-1622, 2012
12582012
Sequence Variants in SLITRK1 Are Associated with Tourette's Syndrome
JF Abelson, KY Kwan, BJ O'Roak, DY Baek, AA Stillman, TM Morgan, ...
Science 310 (5746), 317-320, 2005
11152005
Rare independent mutations in renal salt handling genes contribute to blood pressure variation
W Ji, JN Foo, BJ O'Roak, H Zhao, MG Larson, DB Simon, C Newton-Cheh, ...
Nature genetics 40 (5), 592-599, 2008
8812008
Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development
R Bernier, C Golzio, B Xiong, HA Stessman, BP Coe, O Penn, ...
Cell 158 (2), 263-276, 2014
6822014
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes
JB Rivière, GM Mirzaa, BJ O'Roak, M Beddaoui, D Alcantara, RL Conway, ...
Nature genetics 44 (8), 934-940, 2012
6432012
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1
GL Carvill, SB Heavin, SC Yendle, JM McMahon, BJ O'Roak, J Cook, ...
Nature genetics 45 (7), 825-830, 2013
6292013
Copy number variation detection and genotyping from exome sequence data
N Krumm, PH Sudmant, A Ko, BJ O'Roak, M Malig, BP Coe, AR Quinlan, ...
Genome research 22 (8), 1525-1532, 2012
6192012
Molecular Cytogenetic Analysis and Resequencing of Contactin Associated Protein-Like 2 in Autism Spectrum Disorders
B Bakkaloglu, BJ O'Roak, A Louvi, AR Gupta, JF Abelson, TM Morgan, ...
The American Journal of Human Genetics 82 (1), 165-173, 2008
5772008
Refining analyses of copy number variation identifies specific genes associated with developmental delay
BP Coe, K Witherspoon, JA Rosenfeld, BWM Van Bon, ...
Nature genetics 46 (10), 1063-1071, 2014
5382014
A de novo convergence of autism genetics and molecular neuroscience
N Krumm, BJ O’Roak, J Shendure, EE Eichler
Trends in neurosciences 37 (2), 95-105, 2014
4372014
GRIN2A mutations cause epilepsy-aphasia spectrum disorders
GL Carvill, BM Regan, SC Yendle, BJ O'Roak, N Lozovaya, N Bruneau, ...
Nature genetics 45 (9), 1073-1076, 2013
3542013
Single molecule molecular inversion probes for targeted, high-accuracy detection of low-frequency variation
JB Hiatt, CC Pritchard, SJ Salipante, BJ O'Roak, J Shendure
Genome research 23 (5), 843-854, 2013
3432013
L-histidine decarboxylase and Tourette's syndrome
AG Ercan-Sencicek, AA Stillman, AK Ghosh, K Bilguvar, BJ O'Roak, ...
New England Journal of Medicine 362 (20), 1901-1908, 2010
3362010
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), 1-6, 2014
3012014
PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia
LA Jansen, GM Mirzaa, GE Ishak, BJ O'Roak, JB Hiatt, WH Roden, ...
Brain 138 (6), 1613-1628, 2015
2932015
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