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 Mutation Autistic Disorder Phenotype Drosophila Intellectual Disability Brain Exome Genome Child Zebrafish Neurodevelopmental Disorders Xenopus Laevis Comorbidity Autism Spectrum Disorder Gene Genetic Association Studies Whole Genome Sequencing Proteins Pathology Microcephaly Neural Crest Defect Dyskinesias Virulence

Most Recent Papers

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

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

Birt-Hogg-Dubé symptoms in Smith-Magenis syndrome include pediatric-onset pneumothorax

Brenda Finucane, Juliann M. Savatt, Hermela Shimelis, Santhosh Girirajan, Scott M. Myers, 2021, American Journal of Medical Genetics, Part A on p. 1922-1924

Functional assessment of the "two-hit" model for neurodevelopmental defects in drosophila and x. laevis

Pizzo Lucilla, Lasser Micaela, Yusuff Tanzeen, Jensen Matthew, Ingraham Phoebe, Huber Emily, Dhruba Singh Mayanglambam, Monahan Connor, Iyer Janani, Desai Inshya, Karthikeyan Siddharth, J. Gould Dagny, Yennawar Sneha, T. Weiner I. Alexis, Kumar Pounraja Vijay, Krishnan Arjun, M. Rolls Melissa, Anne Lowery Laura, Girirajan Santhosh, 2021, PLoS Genetics

The chromatin remodeler ISWI acts during Drosophila development to regulate adult sleep

Naihua N. Gong, Leela Chakravarti Dilley, Charlette E. Williams, Emilia H. Moscato, Milan Szuperak, Qin Wang, Matthew Jensen, Santhosh Girirajan, Tiong Yang Tan, Matthew A. Deardorff, Dong Li, Yuanquan Song, Matthew S. Kayser, 2021, Science advances

Gene discoveries in autism are biased towards comorbidity with intellectual disability

Matthew Jensen, Corrine Smolen, Santhosh Girirajan, 2020, Journal of Medical Genetics on p. 647-652

Most-Cited Papers

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

Brian J. O ’ Roak, Laura Vives, Santhosh Girirajan, Emre Karakoc, Niklas Krumm, Bradley P. Coe, Roie Levy, Arthur Ko, Choli Lee, Joshua D. Smith, Emily H. Turner, Ian B. Stanaway, Benjamin Vernot, Maika Malig, Carl Baker, Joshua M. Akey, Elhanan Borenstein, Mark J. Rieder, Deborah A. Nickerson, Raphael Bernier, Jay Shendure, Evan E. Eichler, 2012, Nature on p. 246-250

Phenotypic heterogeneity of genomic disorders and rare copy-number variants

Santhosh Girirajan, Jill A. Rosenfeld, Bradley P. Coe, Sumit Parikh, Neil Friedman, Amy Goldstein, Robyn A. Filipink, Juliann S. McConnell, Brad Angle, Wendy S. Meschino, Marjan M. Nezarati, Alexander Asamoah, Kelly E. Jackson, Gordon C. Gowans, Judith A. Martin, Erin P. Carmany, David W. Stockton, Rhonda E. Schnur, Lynette S. Penney, Donna M. Martin, Salmo Raskin, Kathleen Leppig, Heidi Thiese, Rosemarie Smith, Erika Aberg, Dmitriy M. Niyazov, Luis F. Escobar, Dima El-Khechen, Kisha D. Johnson, Robert R. Lebel, Kiana Siefkas, Susie Ball, Natasha Shur, Marianne McGuire, Campbell K. Brasington, J. Edward Spence, Laura S. Martin, Carol Clericuzio, Blake C. Ballif, Lisa G. Shaffer, Evan E. Eichler, 2012, New England Journal of Medicine on p. 1321-1331

De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP

Krishna R. Veeramah, Janelle E. O'Brien, Miriam H. Meisler, Xiaoyang Cheng, Sulayman D. Dib-Hajj, Stephen G. Waxman, Dinesh Talwar, Santhosh Girirajan, Evan E. Eichler, Linda L. Restifo, Robert P. Erickson, Michael F. Hammer, 2012, American Journal of Human Genetics on p. 502-510

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

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

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

Autosomal dominant familial dyskinesia and facial myokymia

Ying Zhang Chen, Mark M. Matsushita, Peggy Robertson, Mark Rieder, Santhosh Girirajan, Francesca Antonacci, Hillary Lipe, Evan E. Eichler, Deborah A. Nickerson, Thomas D. Bird, Wendy H. Raskind, 2012, Archives of Neurology on p. 630-635

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

The genetic variability and commonality of neurodevelopmental disease

Bradley P. Coe, Santhosh Girirajan, Evan E. Eichler, 2012, American Journal of Medical Genetics, Part C: Seminars in Medical Genetics on p. 118-129

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

News Articles Featuring Santhosh Girirajan

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..

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.

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.

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.

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.

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.

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.

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.

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.