Santhosh Girirajan
Professor of Genomics; Professor of Anthropology; Department Head of Biochemistry and Molecular Biology
-
205A Huck Life Sciences
University Park, PA - sxg47@psu.edu
- 814-865-0674
Research Summary
Understanding the genetic basis of neurodevelopmental disorders.
Huck Graduate Students
Huck Affiliations
- Bioinformatics and Genomics
- Molecular, Cellular, and Integrative Biosciences
- Neuroscience Institute
- Neuroscience
- Center for Molecular Investigation of Neurological Disorders
- Center for Neurotechnology in Mental Health Research
Links
Publication Tags
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 Phenotype Autistic Disorder Copy Number Variation Neurodevelopmental Disorders Drosophila Melanogaster Intellectual Disability Gene Mothers Schizophrenia Heart Defect Defects Genetics Mutation Heart Diseases Pathogenicity Drosophila Genome Autism Autism Spectrum Disorder Progeny Comorbidity Eye EpigeneticsMost 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
Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants
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
Challenges and considerations for reproducibility of STARR-seq assays
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
Pathogenic Variants and Ascertainment: Neuropsychiatric Disease Risk in a Health System Cohort
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
The gene dose makes the disease
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
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
Most-Cited Papers
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
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
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
An assessment of sex bias in neurodevelopmental disorders
Andrew Polyak, Jill A. Rosenfeld, Santhosh Girirajan, 2015, Genome Medicine
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
Rare copy number variation in cerebral palsy
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
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
Parental Origin of Interstitial Duplications at 15q11.2-q13.3 in Schizophrenia and Neurodevelopmental Disorders
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
Pervasive genetic interactions modulate neurodevelopmental defects of the autism-Associated 16p11.2 deletion in Drosophila melanogaster
Janani Iyer, Mayanglambam Dhruba Singh, Matthew Jensen, Payal Patel, Lucilla Pizzo, Emily Huber, Haley Koerselman, Alexis T. Weiner, Paola Lepanto, Komal Vadodaria, Alexis Kubina, Qingyu Wang, Abigail Talbert, Sneha Yennawar, Jose Badano, J. Robert Manak, Melissa M. Rolls, Arjun Krishnan, Santhosh Girirajan, 2018, Nature Communications
News Articles Featuring Santhosh Girirajan
Aug 22, 2024
What is a nonverbal learning disorder? Tim Walz’s son Gus’ condition, explained
Almost 3 million kids in North America have the learning disability NVLD. It affects spatial-visual skills and has nothing to do with speaking abilities.
Full Article
Apr 23, 2024
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).
Full Article
Feb 14, 2024
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
Full Article
Feb 07, 2024
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
Full Article
Feb 07, 2024
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
Full Article
Jan 15, 2024
Honors for Booker, Girirajan, Llinás
3 Penn State researchers have received awards and new titles
Full Article
Oct 03, 2023
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.
Full Article
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.
Full Article
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.
Full Article
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.
Full Article
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.
Full Article
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.
Full Article
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.
Full Article
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.
Full Article
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.
Full Article
Sep 10, 2018
Family Genetics Key to Severity of Autism and Other Neurodevelopmental Disorders
A major international research effort headed by a team at the Pennsylvania State University now reports study data indicating that while the primary risk variant may make an individual more susceptible to developing a particular disorder, such as ASD, the variability and severity of symptoms will depend on their genetic background of accumulated rare mutations—such as deletions and duplications—which have been inherited from parents and grandparents.
Full Article