Santhosh Girirajan

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

Santhosh Girirajan

Publication Tags

Phenotype Genes Genome Mutation Intellectual Disability Autistic Disorder Exome Neurodevelopmental Disorders Genomics Inborn Genetic Diseases Epilepsy Odds Ratio Heritability Gene Exons Autism Spectrum Disorder Proteins Dyskinesia, Familial, With Facial Myokymia Grandparents Alzheimer Disease Language Development Disorders Chondrogenesis Disability Genetic Background Drosophila Melanogaster

Most Recent Papers

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

Molecular basis for phenotypic similarity of genetic disorders

Vijay Kumar Pounraja, Santhosh Girirajan, 2019, Genome Medicine

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

Missing heritability and where to find it

Santhosh Girirajan, 2017, Genome biology

Cover Image, Volume 173A, Number 2, February 2017

Gilles Maussion, Cristiana Cruceanu, Jill A. Rosenfeld, Scott C. Bell, Fabrice Jollant, Jin Szatkiewicz, Ryan L. Collins, Carrie Hanscom, Ilaria Kolobova, Nicolas Menjot de Champfleur, Ian Blumenthal, Colby Chiang, Vanessa Ota, Christina Hultman, Colm O'Dushlaine, Steve McCarroll, Martin Alda, Sebastien Jacquemont, Zehra Ordulu, Christian R. Marshall, Melissa T. Carter, Lisa G. Shaffer, Pamela Sklar, Santhosh Girirajan, Cynthia C. Morton, James F. Gusella, Gustavo Turecki, Dimitri J. Stavropoulos, Patrick F. Sullivan, Stephen W. Scherer, Michael E. Talkowski, Carl Ernst, 2017, American journal of medical genetics. Part A on p. i

Clinical utility gene card for

Lucilla Pizzo, Joris Andrieux, David J. Amor, Santhosh Girirajan, 2017, European Journal of Human Genetics on p. e1-e4

Implication of LRRC4C and DPP6 in neurodevelopmental disorders

Gilles Maussion, Cristiana Cruceanu, Jill A. Rosenfeld, Scott C. Bell, Fabrice Jollant, Jin Szatkiewicz, Ryan L. Collins, Carrie Hanscom, Ilaria Kolobova, Nicolas Menjot de Champfleur, Ian Blumenthal, Colby Chiang, Vanessa Ota, Christina Hultman, Colm O'Dushlaine, Steve McCarroll, Martin Alda, Sebastien Jacquemont, Zehra Ordulu, Christian R. Marshall, Melissa T. Carter, Lisa G. Shaffer, Pamela Sklar, Santhosh Girirajan, Cynthia C. Morton, James F. Gusella, Gustavo Turecki, Dimitri J. Stavropoulos, Patrick F. Sullivan, Stephen W. Scherer, Michael E. Talkowski, Carl Ernst, 2017, American Journal of Medical Genetics, Part A on p. 395-406

Quantitative assessment of eye phenotypes for functional genetic studies using Drosophila melanogaster

Janani Iyer, Qingyu Wang, Thanh Le, Lucilla Pizzo, Sebastian Grönke, Surendra S. Ambegaokar, Yuzuru Imai, Ashutosh Srivastava, Beatriz Llamusí Troisí, Graeme Mardon, Ruben Artero, George R. Jackson, Adrian M. Isaacs, Linda Partridge, Bingwei Lu, Justin P. Kumar, Santhosh Girirajan, 2016, G3: Genes, Genomes, Genetics on p. 1427-1437

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

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

The genetic variability and commonality of neurodevelopmental disease

Bradley P. Coe, Santhosh Girirajan, Evan E. Eichler, 2012, American Journal of Medical Genetics, Part C: Seminars in Medical Genetics on p. 118-129

Autosomal dominant familial dyskinesia and facial myokymia

Ying Zhang Chen, Mark M. Matsushita, Peggy Robertson, Mark Rieder, Santhosh Girirajan, Francesca Antonacci, Hillary Lipe, Evan E. Eichler, Deborah A. Nickerson, Thomas D. Bird, Wendy H. Raskind, 2012, Archives of Neurology on p. 630-635

R47H variant of TREM2 associated with Alzheimer disease in a large late-onset family clinical, genetic, and neuropathological study

Olena Korvatska, James B. Leverenz, Suman Jayadev, Pamela McMillan, Irina Kurtz, Xindi Guo, Malia Rumbaugh, Mark Matsushita, Santhosh Girirajan, Michael O. Dorschner, Kostantin Kiianitsa, Chang En Yu, Zoran Brkanac, Gwenn A. Garden, Wendy H. Raskind, Thomas D. Bird, 2015, JAMA neurology on p. 920-927

Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features

Allen N. Lamb, Jill A. Rosenfeld, Nicholas J. Neill, Michael E. Talkowski, Ian Blumenthal, Santhosh Girirajan, Debra Keelean-Fuller, Zheng Fan, Jill Pouncey, Cathy Stevens, Loren Mackay-Loder, Deborah Terespolsky, Patricia I. Bader, Kenneth Rosenbaum, Stephanie E. Vallee, John B. Moeschler, Roger Ladda, Susan Sell, Judith Martin, Shawnia Ryan, Marilyn C. Jones, Rocio Moran, Amy Shealy, Suneeta Madan-Khetarpal, Juliann Mcconnell, Urvashi Surti, Andrée Delahaye, Bénédicte Heron-Longe, Eva Pipiras, Brigitte Benzacken, Sandrine Passemard, Alain Verloes, Bertrand Isidor, Cedric Le Caignec, Gwen M. Glew, Kent E. Opheim, Maria Descartes, Evan E. Eichler, Cynthia C. Morton, James F. Gusella, Roger A. Schultz, Blake C. Ballif, Lisa G. Shaffer, 2012, Human mutation on p. 728-740

News Articles Featuring Santhosh Girirajan

Jun 24, 2020

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..

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Sep 26, 2019

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.

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Aug 19, 2019

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.

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Aug 19, 2019

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.

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Aug 15, 2019

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.

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