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

Assistant Professor, Pennsylvania State University

SFARI Investigator Website

Santhosh Girirajan is an associate professor of genomics and a member in the Department of Biochemistry and Molecular Biology and the Department of Anthropology at Pennsylvania State University. Girirajan obtained a Ph.D. from Baylor College of Medicine and performed postdoctoral training in the laboratory of Evan Eichler at the University of Washington.

The Girirajan laboratory is interested in untangling the genetic and phenotypic heterogeneity associated with neurodevelopmental disorders, including autism spectrum disorders, schizophrenia, epilepsy, intellectual disability and congenital malformation. Using a combination of experimental human genetics, functional genomics in model organisms, and computational genomics, the laboratory’s primary focus is to discover and characterize genetic changes, including genomic deletions and duplications and single-nucleotide mutations contributing to the etiology of these disorders.

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Funded Projects

SFARI Funded Publications

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants. Pizzo L., Jensen M., Polyak A., Rosenfeld J.A., Mannik K., Krishnan A., McCready E., Pichon O., Le Caignec C., Van Dijck A., Pope K., Voorhoeve E., Yoon J., Stankiewicz P., Wai Cheung S., Pazuchanics D., Huber E., Kumar V., Kember R., Mari F., Curró A., Castiglia L., Galesi O., Avola E., Mattina T., Fichera M., Mandarà L., Vincent M., Nizon M., Mercier S., Bénéteau C., Blesson S., Martin-Coignard D., Mosca-Boidron A-L., Caberg J.H., Bucan M., Zeesman S., Nowaczyk M.J.M., Lefebvre M., Faivre L., Callier P., Skinner C., Keren B., Perrine C., Prontera P., Marle N., Renieri A., Reymond A., Kooy F.R., Isidor B., Schwartz B., Romano C., Sistermans E., Amor D.J., Andrieux J., Girirajan S.
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