Santhosh Girirajan, M.B.B.S., Ph.D.
Affiliations: | 2012- | Biochemistry and Molecular Biology | Pennsylvania State University, State College, PA, United States |
Area:
Copy number variants, neurodevelopmental disordersWebsite:
https://autism.bx.psu.edu/Google:
"Santhosh Girirajan"Parents
Sign in to add mentor| Sarah H. Elsea | grad student | 2003-2008 | Baylor |
| Evan Eichler | post-doc | 2008-2012 | University of Washington |
Children
Sign in to add trainee| Mayanglambam Dhruba Singh | post-doc | 2015- | Penn State |
| Janani Iyer | post-doc | 2012-2015 | Penn State (Neurotree) |
BETA: Related publications
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Publications
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| Cantsilieris S, Sunkin SM, Johnson ME, et al. (2020) An evolutionary driver of interspersed segmental duplications in primates. Genome Biology. 21: 202 |
| Yusuff T, Jensen M, Yennawar S, et al. (2020) Drosophila models of pathogenic copy-number variant genes show global and non-neuronal defects during development. Plos Genetics. 16: e1008792 |
| Singh MD, Jensen M, Lasser M, et al. (2020) NCBP2modulates neurodevelopmental defects of the 3q29 deletion in Drosophila and Xenopus laevis models. Plos Genetics. 16: e1008590 |
| Yusuff T, Jensen M, Yennawar S, et al. (2020) Phenotypic expression of CNV carriers across tissues. Plos Genetics |
| Chow J, Jensen M, Amini H, et al. (2019) Dissecting the genetic basis of comorbid epilepsy phenotypes in neurodevelopmental disorders. Genome Medicine. 11: 65 |
| Pizzo L, Jensen M, Polyak A, et al. (2018) Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants. Genetics in Medicine : Official Journal of the American College of Medical Genetics |
| Iyer J, Singh MD, Jensen M, et al. (2018) Pervasive genetic interactions modulate neurodevelopmental defects of the autism-associated 16p11.2 deletion in Drosophila melanogaster. Nature Communications. 9: 2548 |
| Jensen M, Kooy RF, Simon TJ, et al. (2017) A higher rare CNV burden in the genetic background potentially contributes to intellectual disability phenotypes in 22q11.2 deletion syndrome. European Journal of Medical Genetics |
| Wang Q, Shashikant CS, Jensen M, et al. (2017) Novel metrics to measure coverage in whole exome sequencing datasets reveal local and global non-uniformity. Scientific Reports. 7: 885 |
| Maussion G, Cruceanu C, Rosenfeld JA, et al. (2017) Cover Image, Volume 173A, Number 2, February 2017. American Journal of Medical Genetics. Part A. 173: i |