|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
|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
|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
|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
|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
|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
|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
|Human copy number variation and complex genetic disease|
S Girirajan, CD Campbell, EE Eichler
Annual review of genetics 45, 203, 2011
|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 genetics 7 (11), e1002334, 2011
|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
|Phenotypic variability and genetic susceptibility to genomic disorders|
S Girirajan, EE Eichler
Human molecular genetics 19 (R2), R176-R187, 2010
|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
SH Elsea, S Girirajan
European Journal of Human Genetics 16 (4), 412-421, 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
|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
|The origins and impact of primate segmental duplications|
T Marques-Bonet, S Girirajan, EE Eichler
Trends in Genetics 25 (10), 443-454, 2009
|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
|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
|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
|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