Santhosh Girirajan

Associate Professor of Biochemistry & Molecular Biology; Associate Professor of Anthropology

Santhosh Girirajan

Research Summary

Understanding the genetic basis of neurodevelopmental disorders.

Huck Graduate Students

Huck Affiliations

Links

Publication Tags

Genes Phenotype Autistic Disorder Drosophila Intellectual Disability Gene Exome Mutation Autism Spectrum Disorder Brain Defect Genome Apoptosis Inborn Genetic Diseases Proteins Epilepsy Odds Ratio Xenopus Laevis Defects Primates Child Drosophila Melanogaster Genetic Association Studies Gene Dosage Schizophrenia

Most Recent Papers

Gene discoveries in autism are biased towards comorbidity with intellectual disability

Matthew Jensen, Corrine Smolen, Santhosh Girirajan, 2020, Journal of Medical Genetics on p. 647-652

An evolutionary driver of interspersed segmental duplications in primates

Stuart Cantsilieris, Susan M. Sunkin, Matthew E. Johnson, Fabio Anaclerio, John Huddleston, Carl Baker, Max L. Dougherty, Jason G. Underwood, Arvis Sulovari, Pinghsun Hsieh, Yafei Mao, Claudia Rita Catacchio, Maika Malig, Annemarie E. Welch, Melanie Sorensen, Katherine M. Munson, Weihong Jiang, Santhosh Girirajan, Mario Ventura, Bruce T. Lamb, Ronald A. Conlon, Evan E. Eichler, 2020, Genome Biology

Drosophila models of pathogenic copynumber variant genes show global and nonneuronal defects during development

Tanzeen Yusuff, Matthew Jensen, Sneha Yennawar, Lucilla Pizzo, Siddharth Karthikeyan, Dagny J. Gould, Avik Sarker, Erika Gedvilaite, Yurika Matsui, Janani Iyer, Zhi Chun Lai, Santhosh Girirajan, 2020, PLoS Genetics

NCBP2 modulates neurodevelopmental defects of the 3q29 deletion in Drosophila and Xenopus laevis models

Mayanglambam Dhruba Singh, Matthew Jensen, Micaela Lasser, Emily Huber, Tanzeen Yusuff, Lucilla Pizzo, Brian Lifschutz, Inshya Desai, Alexis Kubina, Sneha Yennawar, Sydney Kim, Janani Iyer, Diego E. Rincon-Limas, Laura Anne Lowery, Santhosh Girirajan, 2020, PLoS Genetics

Dissecting the genetic basis of comorbid epilepsy phenotypes in neurodevelopmental disorders

Julie Chow, Matthew Jensen, Hajar Amini, Farhad Hormozdiari, Osnat Penn, Sagiv Shifman, Santhosh Girirajan, Fereydoun Hormozdiari, 2019, Genome Medicine on p. 65

Molecular basis for phenotypic similarity of genetic disorders

Vijay Kumar Pounraja, Santhosh Girirajan, 2019, Genome Medicine on p. 24

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

Lucilla Pizzo, Matthew Jensen, Andrew Polyak, Jill A. Rosenfeld, Katrin Mannik, Arjun Krishnan, Elizabeth McCready, Olivier Pichon, Cedric Le Caignec, Anke Van Dijck, Kate Pope, Els Voorhoeve, Jieun Yoon, Paweł Stankiewicz, Sau Wai Cheung, Damian Pazuchanics, Emily Huber, Vijay Kumar, Rachel L. Kember, Francesca Mari, Aurora Curró, Lucia Castiglia, Ornella Galesi, Emanuela Avola, Teresa Mattina, Marco Fichera, Luana Mandarà, Marie Vincent, Mathilde Nizon, Sandra Mercier, Claire Bénéteau, Sophie Blesson, Dominique Martin-Coignard, Anne Laure Mosca-Boidron, Jean Hubert Caberg, Maja Bucan, Susan Zeesman, Małgorzata J.M. Nowaczyk, Mathilde Lefebvre, Laurence Faivre, Patrick Callier, Cindy Skinner, Boris Keren, Charles Perrine, Paolo Prontera, Nathalie Marle, Alessandra Renieri, Alexandre Reymond, R. Frank Kooy, Bertrand Isidor, Charles Schwartz, Corrado Romano, Erik Sistermans, David J. Amor, Joris Andrieux, Santhosh Girirajan, 2019, Genetics in Medicine on p. 816-825

An interaction-based model for neuropsychiatric features of copy-number variants

Matthew Jensen, Santhosh Girirajan, 2019, PLoS Genetics

A machine-learning approach for accurate detection of copy number variants from exome sequencing

Vijay Kumar Pounraja, Gopal Jayakar, Matthew Jensen, Neil Kelkar, Santhosh Girirajan, 2019, Genome Research on p. 1134-1143

Pervasive genetic interactions modulate neurodevelopmental defects of the autism-Associated 16p11.2 deletion in Drosophila melanogaster

Janani Iyer, Mayanglambam Dhruba Singh, Matthew Jensen, Payal Patel, Lucilla Pizzo, Emily Huber, Haley Koerselman, Alexis T. Weiner, Paola Lepanto, Komal Vadodaria, Alexis Kubina, Qingyu Wang, Abigail Talbert, Sneha Yennawar, Jose Badano, J. Robert Manak, Melissa Rolls, Arjun Krishnan, Santhosh Girirajan, 2018, Nature Communications

Most-Cited Papers

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

Brian J. O ’ Roak, Laura Vives, Santhosh Girirajan, Emre Karakoc, Niklas Krumm, Bradley P. Coe, Roie Levy, Arthur Ko, Choli Lee, Joshua D. Smith, Emily H. Turner, Ian B. Stanaway, Benjamin Vernot, Maika Malig, Carl Baker, Joshua M. Akey, Elhanan Borenstein, Mark J. Rieder, Deborah A. Nickerson, Raphael Bernier, Jay Shendure, Evan E. Eichler, 2012, Nature on p. 246-250

A copy number variation morbidity map of developmental delay

Gregory M. Cooper, Bradley P. Coe, Santhosh Girirajan, Jill A. Rosenfeld, Tiffany H. Vu, Carl Baker, Charles Williams, Heather Stalker, Rizwan Hamid, Vickie Hannig, Hoda Abdel-Hamid, Patricia Bader, Elizabeth McCracken, Dmitriy Niyazov, Kathleen Leppig, Heidi Thiese, Marybeth Hummel, Nora Alexander, Jerome Gorski, Jennifer Kussmann, Vandana Shashi, Krys Johnson, Catherine Rehder, Blake C. Ballif, Lisa G. Shaffer, Evan E. Eichler, 2011, Nature Genetics on p. 838-846

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

Brian J. O'Roak, Pelagia Deriziotis, Choli Lee, Laura Vives, Jerrod J. Schwartz, Santhosh Girirajan, Emre Karakoc, Alexandra P. MacKenzie, Sarah B. Ng, Carl Baker, Mark J. Rieder, Deborah A. Nickerson, Raphael Bernier, Simon E. Fisher, Jay Shendure, Evan E. Eichler, 2011, Nature Genetics on p. 585-589

Phenotypic heterogeneity of genomic disorders and rare copy-number variants

Santhosh Girirajan, Jill A. Rosenfeld, Bradley P. Coe, Sumit Parikh, Neil Friedman, Amy Goldstein, Robyn A. Filipink, Juliann S. McConnell, Brad Angle, Wendy S. Meschino, Marjan M. Nezarati, Alexander Asamoah, Kelly E. Jackson, Gordon C. Gowans, Judith A. Martin, Erin P. Carmany, David W. Stockton, Rhonda E. Schnur, Lynette S. Penney, Donna M. Martin, Salmo Raskin, Kathleen Leppig, Heidi Thiese, Rosemarie Smith, Erika Aberg, Dmitriy M. Niyazov, Luis F. Escobar, Dima El-Khechen, Kisha D. Johnson, Robert R. Lebel, Kiana Siefkas, Susie Ball, Natasha Shur, Marianne McGuire, Campbell K. Brasington, J. Edward Spence, Laura S. Martin, Carol Clericuzio, Blake C. Ballif, Lisa G. Shaffer, Evan E. Eichler, 2012, New England Journal of Medicine on p. 1321-1331

De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP

Krishna R. Veeramah, Janelle E. O'Brien, Miriam H. Meisler, Xiaoyang Cheng, Sulayman D. Dib-Hajj, Stephen G. Waxman, Dinesh Talwar, Santhosh Girirajan, Evan E. Eichler, Linda L. Restifo, Robert P. Erickson, Michael F. Hammer, 2012, American Journal of Human Genetics on p. 502-510

Human copy number variation and complex genetic disease

Santhosh Girirajan, Catarina D. Campbell, Evan E. Eichler, 2011, Annual Review of Genetics on p. 203-226

Relative burden of large CNVs on a range of neurodevelopmental phenotypes

Santhosh Girirajan, Zoran Brkanac, Bradley P. Coe, Carl Baker, Laura Vives, Tiffany H. Vu, Neil Shafer, Raphael Bernier, Giovanni B. Ferrero, Margherita Silengo, Stephen T. Warren, Carlos S. Moreno, Marco Fichera, Corrado Romano, Wendy H. Raskind, Evan E. Eichler, 2011, PLoS Genetics on p. e1002334

Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder

Santhosh Girirajan, Megan Y. Dennis, Carl Baker, Maika Malig, Bradley P. Coe, Catarina D. Campbell, Kenneth Mark, Tiffany H. Vu, Can Alkan, Ze Cheng, Leslie G. Biesecker, Raphael Bernier, Evan E. Eichler, 2013, American Journal of Human Genetics on p. 221-237

Support for the N-methyl-d-aspartate receptor hypofunction hypothesis of schizophrenia from exome sequencing in multiplex families

Andrew E. Timms, Michael O. Dorschner, Jeremy Wechsler, Kyu Yeong Choi, Robert Kirkwood, Santhosh Girirajan, Carl Baker, Evan E. Eichler, Olena Korvatska, Katherine W. Roche, Marshall S. Horwitz, Debby W. Tsuang, 2013, JAMA Psychiatry on p. 582-590

Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus

Gea Beunders, Els Voorhoeve, Christelle Golzio, Luba M. Pardo, Jill A. Rosenfeld, Michael E. Talkowski, Ingrid Simonic, Anath C. Lionel, Sarah Vergult, Robert E. Pyatt, Jiddeke Van De Kamp, Aggie Nieuwint, Marjan M. Weiss, Patrizia Rizzu, Lucilla E.N.I. Verwer, Rosalina M.L. Van Spaendonk, Yiping Shen, Bai Lin Wu, Tingting Yu, Yongguo Yu, Colby Chiang, James F. Gusella, Amelia M. Lindgren, Cynthia C. Morton, Ellen Van Binsbergen, Saskia Bulk, Els Van Rossem, Olivier Vanakker, Ruth Armstrong, Soo Mi Park, Lynn Greenhalgh, Una Maye, Nicholas J. Neill, Kristin M. Abbott, Susan Sell, Roger Ladda, Darren M. Farber, Patricia I. Bader, Tom Cushing, Joanne M. Drautz, Laura Konczal, Patricia Nash, Emily De Los Reyes, Melissa T. Carter, Elizabeth Hopkins, Christian R. Marshall, Lucy R. Osborne, Karen W. Gripp, Devon Lamb Thrush, Sayaka Hashimoto, Julie M. Gastier-Foster, Caroline Astbury, Bauke Ylstra, Hanne Meijers-Heijboer, Danielle Posthuma, Björn Menten, Geert Mortier, Stephen W. Scherer, Evan E. Eichler, Santhosh Girirajan, Nicholas Katsanis, Alexander J. Groffen, Erik A. Sistermans, 2013, American Journal of Human Genetics on p. 210-220

News Articles Featuring Santhosh Girirajan

Genes affecting brains and brawn?

Genes located in "copy number variants" (CNVs) — parts of chromosomes that are missing in some individuals and duplicated in others — that are associated with neurodevelopmental disorders affect more than just brain development, according to new research..

Apparent new rise in autism may not reflect true prevalence

New statistics on autism prevalence in the United States suggest a dramatic rise in the number of children with the condition. But it is unlikely that these numbers reflect a true rise in prevalence, experts say.

Researchers Create Mini Livers To Test Disease Progression

Scientists have bioengineered miniature human livers – possibly for the first time. The livers were created by University of Pittsburgh researchers in an effort to move away from less reliable experiments on mouse livers.

Pa. researchers create mini livers to test disease progression

Scientists have bioengineered miniature human livers - possibly for the first time. The livers were created by University of Pittsburgh researchers in an effort to move away from less reliable experiments on mouse livers.

Girirajan Lab at Penn State Seeks to Bridge the Gap Between Fly and Human Genomes

For Dr. Santhosh Girirajan, a long flight on the way from Seattle to State College was a career-changing one.

Bioinformatics and Genomics Student Inspires Journal Cover

The July 2019 issue of Genome Research features art inspired by the work of Penn State graduate student Vijay Kumar Pounraja.

New method helping to find deletions and duplications in the human genome

A new machine-learning method accurately identifies regions of the human genome that have been duplicated or deleted — known as copy number variants — that are often associated with autism and other neurodevelopmental disorders. The new method, developed by researchers at Penn State, integrates data from several algorithms that attempt to identify copy number variants from exome-sequencing data — high-throughput DNA sequencing of only the protein-coding regions of the human genome.

Family's 'Genetic Background' Sheds Light On Autism Symptoms

The total amount of rare mutations—deletions, duplications, or other changes to the DNA sequence—in a person’s genome can explain why individuals with a disease-associated mutation can have vastly different symptoms, according to new research.

Family Genetics Key to Severity of Autism and Other Neurodevelopmental Disorders

A major international research effort headed by a team at the Pennsylvania State University now reports study data indicating that while the primary risk variant may make an individual more susceptible to developing a particular disorder, such as ASD, the variability and severity of symptoms will depend on their genetic background of accumulated rare mutations—such as deletions and duplications—which have been inherited from parents and grandparents.