Các bài viết có thể truy cập công khai - Santhosh GirirajanTìm hiểu thêm
Có tại một số nơi: 85
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
Các cơ quan ủy nhiệm: US National Institutes of Health, Howard Hughes Medical Institute
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
Các cơ quan ủy nhiệm: US National Institutes of Health, Howard Hughes Medical Institute, Canadian …
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
Các cơ quan ủy nhiệm: US National Institutes of Health, Howard Hughes Medical Institute
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
Các cơ quan ủy nhiệm: US National Institutes of Health
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
Các cơ quan ủy nhiệm: US National Institutes of Health, Howard Hughes Medical Institute
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
Các cơ quan ủy nhiệm: US National Institutes of Health, Howard Hughes Medical Institute
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
Các cơ quan ủy nhiệm: US National Institutes of Health, Autism Speaks Inc, USA
Human copy number variation and complex genetic disease
S Girirajan, CD Campbell, EE Eichler
Annual review of genetics 45 (1), 203-226, 2011
Các cơ quan ủy nhiệm: US National Institutes of Health, Howard Hughes Medical Institute
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
Các cơ quan ủy nhiệm: US National Institutes of Health, Howard Hughes Medical Institute
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
Các cơ quan ủy nhiệm: US National Institutes of Health, Howard Hughes Medical Institute
Phenotypic variability and genetic susceptibility to genomic disorders
S Girirajan, EE Eichler
Human molecular genetics 19 (R2), R176-R187, 2010
Các cơ quan ủy nhiệm: US National Institutes of Health, Howard Hughes Medical Institute
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
Các cơ quan ủy nhiệm: US National Institutes of Health, Howard Hughes Medical Institute
Smith–Magenis syndrome
SH Elsea, S Girirajan
European Journal of Human Genetics 16 (4), 412-421, 2008
Các cơ quan ủy nhiệm: US National Institutes of Health
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, 26-38, 2010
Các cơ quan ủy nhiệm: US National Institutes of Health, Howard Hughes Medical Institute
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
Các cơ quan ủy nhiệm: US National Institutes of Health, Howard Hughes Medical Institute
The origins and impact of primate segmental duplications
T Marques-Bonet, S Girirajan, EE Eichler
Trends in Genetics 25 (10), 443-454, 2009
Các cơ quan ủy nhiệm: US National Institutes of Health, Howard Hughes Medical Institute
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants
L Pizzo, M Jensen, A Polyak, JA Rosenfeld, K Mannik, A Krishnan, ...
Genetics in Medicine 21 (4), 816-825, 2019
Các cơ quan ủy nhiệm: Swiss National Science Foundation, US National Institutes of Health …
R47H variant of TREM2 associated with Alzheimer disease in a large late-onset family: clinical, genetic, and neuropathological study
O Korvatska, JB Leverenz, S Jayadev, P McMillan, I Kurtz, X Guo, ...
JAMA neurology 72 (8), 920-927, 2015
Các cơ quan ủy nhiệm: US National Institutes of Health, US Department of Veterans Affairs
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
Các cơ quan ủy nhiệm: US National Institutes of Health
The genetic variability and commonality of neurodevelopmental disease
BP Coe, S Girirajan, EE Eichler
American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2012
Các cơ quan ủy nhiệm: Howard Hughes Medical Institute, Canadian Institutes of Health Research
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