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 Intellectual Disability Neurodevelopmental Disorders Mutation Zebrafish Child Heart Autism Spectrum Disorder Heart Diseases Exome Brain Comorbidity Pathology Schizophrenia Infections Microcephaly Drosophila Therapeutics Gene Infection Sexism Selenoproteins Loci

Most Recent Publications

Artificial gravity partially protects space-induced neurological deficits in Drosophila melanogaster

Siddhita D. Mhatre, Janani Iyer, Juli Petereit, Roberta M. Dolling-Boreham, Anastasia Tyryshkina, Amber M. Paul, Rachel Gilbert, Matthew Jensen, Rebekah J. Woolsey, Sulekha Anand, Marianne B. Sowa, David R. Quilici, Sylvain V. Costes, Santhosh Girirajan, Sharmila Bhattacharya, 2022, Cell Reports

Neurodevelopmental copy-number variants: A roadmap to improving outcomes by uniting patient advocates, researchers, and clinicians for collective impact

Elizabeth Buttermore, Stormy Chamberlain, Jannine Cody, Gregory Costain, Louis Dang, Andrew DeWoody, Yssa DeWoody, Kira Dies, Evan Eichler, Santhosh Girirajan, Marie Gramm, Alycia Halladay, Dennis Lal, Matthew Lalli, Tess Levy, Glennis Logsdon, Daniel Lowenstein, Heather Mefford, Jennifer Mulle, Alysson Muotri, Melissa Murphy, Eduardo Perez Palma, Stefan Pinter, Rebecca Pollak, Ryan Purcell, Rodney Samaco, Bina Shah, Karun Singh, Joyce So, Maria Sundberg, Surabi Veeraragavan, Vanessa Vogel-Farley, Anthony Wynshaw-Boris, 2022, American Journal of Human Genetics on p. 1353-1365

The gene dose makes the disease

Corrine Smolen, Santhosh Girirajan, 2022, Cell on p. 2850-2852

A general framework for identifying oligogenic combinations of rare variants in complex disorders

Vijay Kumar Pounraja, Santhosh Girirajan, 2022, Genome Research on p. 904-915

Implications of the first complete human genome assembly

Can Alkan, Lucia Carbone, Megan Dennis, Jason Ernst, Gilad Evrony, Santhosh Girirajan, Danny Chi Yeu Leung, Clooney C.Y. Cheng, David MacAlpine, Ting Ni, Michèle Ramsay, Helen Rowe, Poppy Gould, Rocio Enriquez-Gasca, Beth Sullivan, 2022, Genome Research on p. 595-598

16p12.1 Deletion Orthologs are Expressed in Motile Neural Crest Cells and are Important for Regulating Craniofacial Development in Xenopus laevis

Micaela Lasser, Jessica Bolduc, Luke Murphy, Caroline O'Brien, Sangmook Lee, Santhosh Girirajan, Laura Anne Lowery, 2022, Frontiers in Genetics

Genetic subtypes, allelic effects, and convergent neurodevelopmental mechanisms

Maitreya Das, Santhosh Girirajan, 2021, Genome Medicine

Combinatorial patterns of gene expression changes contribute to variable expressivity of the developmental delay-associated 16p12.1 deletion

Matthew Jensen, Anastasia Tyryshkina, Lucilla Pizzo, Corrine Smolen, Maitreya Das, Emily Huber, Arjun Krishnan, Santhosh Girirajan, 2021, Genome Medicine

Macrophage Selenoproteins Restrict Intracellular Replication of Francisella tularensis and Are Essential for Host Immunity

Rachel Markley, Katherine Restori, Bhuvana Katkere, Sarah Sumner, McKayla Nicol, Anastasia Tyryshkina, Shaneice Nettleford, David Williamson, David Place, Kalyan Dewan, Ashley Shay, Bradley Carlson, Santhosh Girirajan, K. Prabhu, Girish S. Kirimanjeswara, 2021, Frontiers in Immunology

Dissecting the complexity of CNV pathogenicity: insights from Drosophila and zebrafish models

Tanzeen Yusuff, Georgios Kellaris, Santhosh Girirajan, Nicholas Katsanis, 2021, Current Opinion in Genetics and Development on p. 79-87

Most-Cited Papers

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

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

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

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

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

Comorbidity of intellectual disability confounds ascertainment of autism: Implications for genetic diagnosis

Andrew Polyak, Richard M. Kubina, Santhosh Girirajan, 2015, American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics on p. 600-608

Epigenetics of autism-related impairment: Copy number variation and maternal infection

Varvara Mazina, Jennifer Gerdts, Sandy Trinh, Katy Ankenman, Tracey Ward, Megan Y. Dennis, Santhosh Girirajan, Evan E. Eichler, Raphael Bernier, 2015, Journal of Developmental and Behavioral Pediatrics on p. 61-67

De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects

James R. Priest, Kazutoyo Osoegawa, Nebil Mohammed, Vivek Nanda, Ramendra Kundu, Kathleen Schultz, Edward J. Lammer, Santhosh Girirajan, Todd Scheetz, Daryl Waggott, Francois Haddad, Sushma Reddy, Daniel Bernstein, Trudy Burns, Jeffrey D. Steimle, Xinan H. Yang, Ivan P. Moskowitz, Matthew Hurles, Richard P. Lifton, Debbie Nickerson, Michael Bamshad, Evan E. Eichler, Seema Mital, Val Sheffield, Thomas Quertermous, Bruce D. Gelb, Michael Portman, Euan A. Ashley, 2016, PLoS Genetics on p. e1005963

An assessment of sex bias in neurodevelopmental disorders

Andrew Polyak, Jill A. Rosenfeld, Santhosh Girirajan, 2015, Genome Medicine

Global increases in both common and rare copy number load associated with autism

Santhosh Girirajan, Rebecca L. Johnson, Flora Tassone, Jorune Balciuniene, Neerja Katiyar, Keolu Fox, Carl Baker, Abhinaya Srikanth, Kian Hui Yeoh, Su Jen Khoo, Therese B. Nauth, Robin Hansen, Marylyn Ritchie, Irva Hertz-Picciotto, Evan E. Eichler, Isaac N. Pessah, Scott B. Selleck, 2013, Human Molecular Genetics on p. 2870-2880

News Articles Featuring Santhosh Girirajan

Jan 26, 2023

Autism rates have tripled. Is it now more common or are we just better at diagnosis?

Autism rates tripled among children in the New York and New Jersey metropolitan area from 2000 to 2016, according to a study published Thursday in the journal Pediatrics.

Full Article

Jan 26, 2023

Autism rates have tripled. Is it now more common or are we just better at diagnosis?

New research suggests doctors have improved at identifying autism, especially among children with average or above-average IQs. But that doesn't fully explain the trend.

Full Article

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..

Full Article

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.

Full Article

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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Jul 30, 2019

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.

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Jul 09, 2019

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.

Full Article

Sep 19, 2018

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.

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