Associate Professor of Biochemistry & Molecular Biology; Associate Professor of Anthropology
205A Huck Life Sciences
University Park, PA
Understanding the genetic basis of neurodevelopmental disorders.
Huck Graduate Students
- Bioinformatics and Genomics
- Molecular, Cellular, and Integrative Biosciences
- Neuroscience Institute
- Center for Molecular Investigation of Neurological Disorders
- Center for Neurotechnology in Mental Health Research
Publication TagsGenes 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
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.
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.
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..
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.
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.
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.
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.
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.
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.
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.