Santhosh Girirajan

Professor of Genomics; Interim Department Head of Biochemistry and Molecular Biology; Professor of Anthropology

Santhosh Girirajan

Research Summary

Understanding the genetic basis of neurodevelopmental disorders.

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Genes Phenotype Autistic Disorder Neurodevelopmental Disorders Intellectual Disability Schizophrenia Mothers Heart Diseases Heart Mutation Drosophila Melanogaster Genome Gene Autism Pathogenicity Autism Spectrum Disorder Exome Comorbidity Epigenomics Datasets Alzheimer's Disease Microgravity Chromatin Immunoprecipitation Sequencing Cleft Lip Research Personnel

Most Recent Publications

Strategies for dissecting the complexity of neurodevelopmental disorders

Jiawan Sun, Serena Noss, Deepro Banerjee, Maitreya Das, Santhosh Girirajan, 2024, Trends in Genetics on p. 187-202

Corrine Smolen, Matthew Jensen, Lisa Dyer, Lucilla Pizzo, Anastasia Tyryshkina, Deepro Banerjee, Laura Rohan, Emily Huber, Laila El Khattabi, Paolo Prontera, Jean Hubert Caberg, Anke Van Dijck, Charles Schwartz, Laurence Faivre, Patrick Callier, Anne Laure Mosca-Boidron, Mathilde Lefebvre, Kate Pope, Penny Snell, Paul J. Lockhart, Lucia Castiglia, Ornella Galesi, Emanuela Avola, Teresa Mattina, Marco Fichera, Giuseppa Maria Luana Mandarà, Maria Grazia Bruccheri, Olivier Pichon, Cedric Le Caignec, Radka Stoeva, Silvestre Cuinat, Sandra Mercier, Claire Bénéteau, Sophie Blesson, Ashley Nordsletten, Dominique Martin-Coignard, Erik Sistermans, R. Frank Kooy, David J. Amor, Corrado Romano, Bertrand Isidor, Jane Juusola, Santhosh Girirajan, 2023, American Journal of Human Genetics on p. 2015-2028

Maitreya Das, Ayaan Hossain, Deepro Banerjee, Craig Alan Praul, Santhosh Girirajan, 2023, Genome Research on p. 479-495

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

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

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

Most-Cited Papers

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

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

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

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

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

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

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

Anthony R. Isles, Andrés Ingason, Chelsea Lowther, James Walters, Micha Gawlick, Gerald Stöber, Elliott Rees, Joanna Martin, Rosie B. Little, Harry Potter, Lyudmila Georgieva, Lucilla Pizzo, Norio Ozaki, Branko Aleksic, Itaru Kushima, Masashi Ikeda, Nakao Iwata, Douglas F. Levinson, Pablo V. Gejman, Jianxin Shi, Alan R. Sanders, Jubao Duan, Joseph Willis, Sanjay Sisodiya, Gregory Costain, Thomas M. Werge, Franziska Degenhardt, Ina Giegling, Dan Rujescu, Stefan J. Hreidarsson, Evald Saemundsen, Joo Wook Ahn, Caroline Ogilvie, Santhosh D. Girirajan, Hreinn Stefansson, Kari Stefansson, Michael C. O’Donovan, Michael J. Owen, Anne Bassett, George Kirov, 2016, PLoS Genetics

Qingyu Wang, Cooduvalli S. Shashikant, Matthew Jensen, Naomi S. Altman, Santhosh Girirajan, 2017, Scientific Reports

News Articles Featuring Santhosh Girirajan

Penn State molecular biologist Ross Hardison named an AAAS Fellow

Ross Hardison, Academy Professor and professor emeritus of biochemistry and molecular biology, has been named a fellow of the American Association for the Advancement of Science (AAAS).

Penn State molecular biologist Joseph Reese named distinguished professor

Joseph Reese, professor of biochemistry and molecular biology, has been selected to receive the title of Distinguished Professor of Biochemistry and Molecular Biology

Predicting neurodevelopmental disease in children from parent’s traits

Predicting the trajectory of neurodevelopmental and psychiatric disorders like autism or schizophrenia is difficult because they can be influenced by many different genetic and environmental factors

Parental Traits May Influence Neurodevelopmental Disorders

Researchers revealed that evaluating parental traits for neurodevelopmental and psychiatric disorders offers a more precise prediction for these conditions in children than genetic testing alone

Honors for Booker, Girirajan, Llinás

3 Penn State researchers have received awards and new titles

Girirajan named T. Ming Chu Professor of Biochemistry and Molecular Biology

Santhosh Girirajan, professor and interim head of the Penn State Department of Biochemistry and Molecular Biology, has been named the T. Ming Chu Professor of Biochemistry and Molecular Biology.

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.

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.

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.

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.