Jonathan Pevsner


(443) 923-2686

707 N. Broadway
400D KKI
Baltimore MD 21205

Psychiatry and Behavioral Sciences


The Pevsner lab studies the molecular basis of childhood brain disorders. We focus on chromosomal abnormalities (measured with single nucleotide polymorphism or SNP arrays) as well as genetic variants (measured using whole genome, whole exome, or targeted sequencing). The lab specializes in bioinformatics approaches: we use computational tools to make progress in understanding disease, and we write software programs to facilitate our research. Our goals are to identify genes and proteins implicated in childhood disease, and to develop rational therapeutic strategies for treatment.    We recently identified mutations in GNAQ (encoding a G protein alpha subunit) as the cause of both Sturge-Weber syndrome (a rare neurocutaneous disorder) and port-wine stains (a commonly occurring birthmark affecting 1:333 people). This discovery was accomplished through whole genome sequencing and targeted next-generation sequencing. The mutation is somatic, mosaic, and activating, and suggests a possible treatment based on modulating specific signaling pathways.   Disease we currently study include: • autism spectrum disorder • Sturge-Weber syndrome • self-injury and intellectual disability • schizophrenia

Baugher JD, Baugher BD, Shirley MD, Pevsner J. Sensitive and specific detection of mosaic chromosomal abnormalities using the Parent-of-Origin-based Detection (POD) method. BMC Genomics. 2013 May 31;14:367. doi: 10.1186/1471-2164-14-367.

Shirley MD, Tang H, Gallione CJ, Baugher JD, Frelin LP, Cohen B, North PE, Marchuk DA, Comi AM, Pevsner J. Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ. N Engl J Med. 2013 May 23;368(21):1971-9. doi: 10.1056/NEJMoa1213507.

Kondo MA, Tajinda K, Colantuoni C, Hiyama H, Seshadri S, Huang B, Pou S, Furukori K, Hookway C, Jaaro-Peled H, Kano SI, Matsuoka N, Harada K, Ni K, Pevsner J, Sawa A. Unique pharmacological actions of atypical neuroleptic quetiapine: possible role in cell cycle/fate control. Transl Psychiatry. 2013 Apr 2;3:e243. doi: 10.1038/tp.2013.19.

Stevens EL, Heckenberg G, Baugher JD, Roberson ED, Downey TJ, Pevsner J. Consanguinity in Centre d’Йtude du Polymorphisme Humain (CEPH) pedigrees. Eur J Hum Genet. 2012; 10.1038/ejhg.2011.266.

Shirley MD, Baugher JD, Stevens EL, Tang Z, Gerry N, Beiswanger CM, Berlin DS, Pevsner J. Chromosomal variation in lymphoblastoid cell lines. Human Mutation. 2012  10.1002/humu.22062.

Stevens EL, Baugher JD, Shirley MD, Frelin LP, Pevsner J. Unexpected relationships and inbreeding in HapMap phase III populations. PLoS One. 2012; 7(11):e49575.

Halper-Stromberg E, Frelin L, Ruczinski R, Scharpf R, Jie C, Carvalho B, Hao H, Hetrick K, Jedlicka A, Dziedzic A, Doheny K, Scott AF, Baylin S, Pevsner J, Spencer F, Irizarry RA. Performance assessment of copy number microarray platforms using a spike-in experiment. Bioinformatics. 2011; 27(8):1052-1060.

Stevens E, Heckenberg G, Roberson EDO, Baugher JD, Downey TJ, Pevsner J. Inference of relationships in population data using identity-by-descent and identity-by-state. PLoS Genetics. 2011; 7(9):e1002287.

Roberson EDO, Wohler ES, Hoover-Fong JE, Lisi E,  Stevens EL, Thomas GH, Leonard J, Hamosh A, Pevsner J. Genomic analysis of partial 21q monosomies with variable phenotypes. Eur. J. Human Genetics. 2010; 19(2):235-238.

Sobreira NL, Cirulli ET, Avramopoulos D, Wohler E, Oswald GL, Stevens EL, Ge D, Shianna KV, Smith JP, Maia JM, Gumbs CE, Pevsner J, Thomas G, Valle D, Hoover-Fong JE, Goldstein DB. Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene. PLoS Genet. 2010 Jun 17;6(6):e1000991. doi: 10.1371/journal.pgen.1000991.

Roberson ED and Pevsner J. Visualization of shared genomic regions and meiotic recombination in high-density SNP data. PLoS ONE. 2009; 4(8):e6711.

Ting JC, Roberson ED, Currier DG, Pevsner J. Locations and patterns of meiotic recombination in two-generation pedigrees. BMC Med. Genet. 2009; 10(1):93.

Freed D, Pevsner J. The Contribution of Mosaic Variants to Autism Spectrum Disorder. PLoS Genet. 2016 Sep 15;12(9):e1006245. doi: 10.1371/journal.pgen.1006245. eCollection 2016 Sep. PubMed PMID: 27632392; PubMed Central PMCID: PMC5024993.

Freed D, Stevens EL, Pevsner J. Somatic mosaicism in the human genome. Genes (Basel). 2014 Dec 11;5(4):1064-94. doi: 10.3390/genes5041064. Review. PubMed PMID: 25513881; PubMed Central PMCID: PMC4276927.

McConnell MJ, Moran JV, Abyzov A, Akbarian S, Bae T, Cortes-Ciriano I, Erwin JA, Fasching L, Flasch DA, Freed D, Ganz J, Jaffe AE, Kwan KY, Kwon M, Lodato MA, Mills RE, Paquola ACM, Rodin RE, Rosenbluh C, Sestan N, Sherman MA, Shin JH, Song S, Straub RE, Thorpe J, Weinberger DR, Urban AE, Zhou B, Gage FH, Lehner T, Senthil G, Walsh CA, Chess A, Courchesne E, Gleeson JG, Kidd JM, Park PJ, Pevsner J, Vaccarino FM; Brain Somatic Mosaicism Network. Intersection of diverse neuronal genomes and neuropsychiatric disease: The Brain Somatic Mosaicism Network. Science. 2017 Apr 28;356(6336). pii: eaal1641. doi: 10.1126/science.aal1641. Epub 2017 Apr 27. Review. PubMed PMID: 28450582; PubMed Central PMCID: PMC5558435.