Santhosh Girirajan, M.B.B.S., Ph.D.

2012- Biochemistry and Molecular Biology Pennsylvania State University, State College, PA, United States 
Copy number variants, neurodevelopmental disorders
"Santhosh Girirajan"


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Sarah H. Elsea grad student 2003-2008 Baylor
Evan Eichler post-doc 2008-2012 University of Washington


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Mayanglambam Dhruba Singh post-doc 2015- Penn State
Janani Iyer post-doc 2012-2015 Penn State (Neurotree)
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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
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