| 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 | 1932 | 2012 |
| 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, 2011 | 1220 | 2011 |
| A copy number variation morbidity map of developmental delay GM Cooper, BP Coe, S Girirajan, JA Rosenfeld, TH Vu, C Baker, ... Nature genetics 43 (9), 838-846, 2011 | 1126 | 2011 |
| Population analysis of large copy number variants and hotspots of human genetic disease A Itsara, GM Cooper, C Baker, S Girirajan, J Li, D Absher, RM Krauss, ... The American Journal of Human Genetics 84 (2), 148-161, 2009 | 604 | 2009 |
| A recurrent 16p12. 1 microdeletion supports a two-hit model for severe developmental delay S Girirajan, JA Rosenfeld, GM Cooper, F Antonacci, P Siswara, A Itsara, ... Nature genetics 42 (3), 203-209, 2010 | 559 | 2010 |
| Phenotypic heterogeneity of genomic disorders and rare copy-number variants S Girirajan, JA Rosenfeld, BP Coe, S Parikh, N Friedman, A Goldstein, ... New England Journal of Medicine 367 (14), 1321-1331, 2012 | 487 | 2012 |
| Human copy number variation and complex genetic disease S Girirajan, CD Campbell, EE Eichler Annual review of genetics 45, 203-226, 2011 | 351 | 2011 |
| De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP KR Veeramah, JE O'Brien, MH Meisler, X Cheng, SD Dib-Hajj, ... The American Journal of Human Genetics 90 (3), 502-510, 2012 | 332 | 2012 |
| Relative burden of large CNVs on a range of neurodevelopmental phenotypes S Girirajan, Z Brkanac, BP Coe, C Baker, L Vives, TH Vu, N Shafer, ... PLoS Genet 7 (11), e1002334, 2011 | 280 | 2011 |
| Phenotypic variability and genetic susceptibility to genomic disorders S Girirajan, EE Eichler Human molecular genetics 19 (R2), R176-R187, 2010 | 264 | 2010 |
| Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder S Girirajan, MY Dennis, C Baker, M Malig, BP Coe, CD Campbell, K Mark, ... The American Journal of Human Genetics 92 (2), 221-237, 2013 | 261 | 2013 |
| A burst of segmental duplications in the genome of the African great ape ancestor T Marques-Bonet, JM Kidd, M Ventura, TA Graves, Z Cheng, LDW Hillier, ... Nature 457 (7231), 877-881, 2009 | 257 | 2009 |
| Smith–Magenis syndrome SH Elsea, S Girirajan European Journal of Human Genetics 16 (4), 412-421, 2008 | 232 | 2008 |
| Genotype–phenotype correlation in Smith-Magenis syndrome: Evidence that multiple genes in 17p11. 2 contribute to the clinical spectrum S Girirajan, CN Vlangos, BB Szomju, E Edelman, CD Trevors, L Dupuis, ... Genetics in Medicine 8 (7), 417-427, 2006 | 152 | 2006 |
| The origins and impact of primate segmental duplications T Marques-Bonet, S Girirajan, EE Eichler Trends in Genetics 25 (10), 443-454, 2009 | 150 | 2009 |
| Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11. 2 microdeletions and microduplications JA Rosenfeld, J Coppinger, BA Bejjani, S Girirajan, EE Eichler, LG Shaffer, ... Journal of neurodevelopmental disorders 2 (1), 26-38, 2010 | 144 | 2010 |
| Contribution of connexin26 (GJB2) mutations and founder effect to non-syndromic hearing loss in India M RamShankar, S Girirajan, O Dagan, HMR Shankar, R Jalvi, ... Journal of Medical Genetics 40 (5), e68-e68, 2003 | 136 | 2003 |
| Gender, genotype, and phenotype differences in Smith–Magenis syndrome: a meta‐analysis of 105 cases EA Edelman, S Girirajan, B Finucane, PI Patel, JR Lupski, ACM Smith, ... Clinical genetics 71 (6), 540-550, 2007 | 135 | 2007 |
| Support for the N-methyl-D-aspartate receptor hypofunction hypothesis of schizophrenia from exome sequencing in multiplex families AE Timms, MO Dorschner, J Wechsler, KY Choi, R Kirkwood, S Girirajan, ... JAMA psychiatry 70 (6), 582-590, 2013 | 126 | 2013 |
| Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus G Beunders, E Voorhoeve, C Golzio, LM Pardo, JA Rosenfeld, ... The American Journal of Human Genetics 92 (2), 210-220, 2013 | 122 | 2013 |
