Professor of Genomics; Interim Department Head of Biochemistry and Molecular Biology; Professor of Anthropology
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
These publication tags are generated from the output of this researcher. Click any tag below to view other Huck researchers working on the same topic.Genes Autistic Disorder Phenotype Intellectual Disability Mutation Neurodevelopmental Disorders Heart Autism Spectrum Disorder Heart Diseases Genome Zebrafish Exome Cerebral Palsy Comorbidity Mothers Schizophrenia Xenopus Laevis Microcephaly Therapeutics Gene Alzheimer's Disease Microgravity Chromatin Immunoprecipitation Sequencing Cleft Lip Research Personnel
Most Recent Publications
Maitreya Das, Ayaan Hossain, Deepro Banerjee, Craig Alan Praul, Santhosh Girirajan, 2023, Genome Research on p. 479-495
Genome-wide analysis of copy-number variation in humans with cleft lip and/or cleft palate identifies COBLL1, RIC1, and ARHGEF38 as clefting genes
Lisa A. Lansdon, Amanda Dickinson, Sydney Arlis, Huan Liu, Arman Hlas, Alyssa Hahn, Greg Bonde, Abby Long, Jennifer Standley, Anastasia Tyryshkina, George Wehby, Nanette R. Lee, Sandra Daack-Hirsch, Karen Mohlke, Santhosh Girirajan, Benjamin W. Darbro, Robert A. Cornell, Douglas W. Houston, Jeffrey C. Murray, J. Robert Manak, 2023, American Journal of Human Genetics on p. 71-91
Deepro Banerjee, Santhosh Girirajan, 2023, American Journal of Psychiatry on p. 11-13
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
Corrine Smolen, Santhosh Girirajan, 2022, Cell on p. 2850-2852
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
Vijay Kumar Pounraja, Santhosh Girirajan, 2022, Genome Research on p. 904-915
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
Maitreya Das, Santhosh Girirajan, 2021, Genome Medicine
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
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
Andrew Polyak, Jill A. Rosenfeld, Santhosh Girirajan, 2015, Genome Medicine
Gai McMichael, Santhosh Girirajan, Andres Moreno-De-Luca, Jozef Gecz, Chloe Shard, Lam Son Nguyen, Jillian Nicholl, Catherine Gibson, Eric Haan, Evan Eichler, Christa Lese Martin, Alastair MacLennan, 2014, European Journal of Human Genetics on p. 40-45
News Articles Featuring Santhosh Girirajan
Jul 06, 2023
Partner selection may amplify rare variants in children
Partners who share similar traits of a given condition, such as autism, may concentrate rare genetic variants in their children, increasing the likelihood of having a child with that condition, according to a new preprint.
Jun 12, 2023
Penn State announces tenure-line faculty promotions, effective July 1, 2023
The following is a list of academic promotions for tenured and tenure-line faculty members at Penn State, effective July 1, 2023.
May 18, 2023
Genetic background sways effects of autism-linked mutation
An autism-linked mutation disrupts the development of clusters of brain cells, or brain organoids, generated from autistic people but displays significantly less of an effect in organoids produced from neurotypical donors, a new study finds.
Apr 19, 2023
U.S. study charts changing prevalence of profound and non-profound autism
More than a quarter of autistic 8-year-olds in the United States have profound autism, according to a study published today in Public Health Reports. Although the overall prevalence of profound autism in this age group increased from 2002 to 2016, the prevalence of non-profound autism did so at a sharper rate, the findings show.
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.