| 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 | 6516 | 2014 |
| 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 | 2715 | 2014 |
| 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 | 2451 | 2012 |
| 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 | 1517 | 2011 |
| 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 | 1455 | 2011 |
| 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 | 1444 | 2012 |
| 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 | 1248 | 2005 |
| 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 | 963 | 2008 |
| 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 | 840 | 2014 |
| 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 | 750 | 2013 |
| 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 | 742 | 2012 |
| 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 | 724 | 2012 |
| 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 | 691 | 2014 |
| 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 | 621 | 2008 |
| 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 | 504 | 2014 |
| 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 | 443 | 2013 |
| 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 | 407 | 2013 |
| 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 | 379 | 2015 |
| 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 | 378 | 2010 |
| SPARK: A US cohort of 50,000 families to accelerate autism research P Feliciano, AM Daniels, LAG Snyder, A Beaumont, A Camba, A Esler, ... Neuron 97 (3), 488-493, 2018 | 377 | 2018 |
