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 | VCU School of Medicine |
| 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) |
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Publications
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| Smolen C, Jensen M, Dyer L, et al. (2023) Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants. American Journal of Human Genetics |
| Lansdon LA, Dickinson A, Arlis S, et al. (2022) Genome-wide analysis of copy number variation in humans with cleft lip and/or cleft palate identifies COBLL1, RIC1, and ARHGEF38 as clefting genes. American Journal of Human Genetics |
| Mhatre SD, Iyer J, Petereit J, et al. (2022) Artificial gravity partially protects space-induced neurological deficits in Drosophila melanogaster. Cell Reports. 40: 111279 |
| Lasser M, Bolduc J, Murphy L, et al. (2022) 16p12.1 Deletion Orthologs are Expressed in Motile Neural Crest Cells and are Important for Regulating Craniofacial Development in . Frontiers in Genetics. 13: 833083 |
| Pounraja VK, Girirajan S. (2022) A general framework for identifying oligogenic combinations of rare variants in complex disorders. Genome Research. 32: 904-915 |
| Jensen M, Tyryshkina A, Pizzo L, et al. (2021) Combinatorial patterns of gene expression changes contribute to variable expressivity of the developmental delay-associated 16p12.1 deletion. Genome Medicine. 13: 163 |
| Das M, Girirajan S. (2021) Genetic subtypes, allelic effects, and convergent neurodevelopmental mechanisms. Genome Medicine. 13: 99 |
| Pizzo L, Lasser M, Yusuff T, et al. (2021) Functional assessment of the "two-hit" model for neurodevelopmental defects in Drosophila and X. laevis. Plos Genetics. 17: e1009112 |
| Yusuff T, Kellaris G, Girirajan S, et al. (2021) Dissecting the complexity of CNV pathogenicity: insights from Drosophila and zebrafish models. Current Opinion in Genetics & Development. 68: 79-87 |
| Cantsilieris S, Sunkin SM, Johnson ME, et al. (2020) An evolutionary driver of interspersed segmental duplications in primates. Genome Biology. 21: 202 |