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 disorders
Website:
https://autism.bx.psu.edu/
Google:
"Santhosh Girirajan"
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Publications

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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
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
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
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
Jensen M, Smolen C, Girirajan S. (2020) Gene discoveries in autism are biased towards comorbidity with intellectual disability. Journal of Medical Genetics
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
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