Publications

Recent Publications

Horiuchi Y, Kondo MA, Okada K, Takayanagi Y, Tanaka T, Ho T, Varvaris M, Tajinda K, Hiyama H, Ni K, Colantuoni C, Schretlen D, Cascella NG, Pevsner J, Ishizuka K, Sawa A. Molecular signatures associated with cognitive deficits in schizophrenia: a study of biopsied olfactory neural epithelium. Transl Psychiatry. 2016 Oct 11;6(10). PMID: 27727244
Freed D, Pevsner J. The Contribution of Mosaic Variants to Autism Spectrum Disorder. PLOS Genet. 2016 Sep 15;12(9). PMID: 27632392
Goodwin CR, Woodard CL, Zhou X, Pan J, Olivi A, Xia S, Bettegowda C, Sciubba DM, Pevsner J, Zhu H, Laterra J. Microarray-Based Phospho-Proteomic Profiling of Complex Biological Systems. Transl Oncol. 2016 Apr;9(2):124-9. PMID: 27084428
Shirley MD, Frelin L, Lopez JS, Jedlicka A, Dziedzic A, Frank-Crawford MA, Silverman W, Hagopian L, Pevsner J. Copy Number Variants Associated with 14 Cases of Self-Injurious Behavior. PLOS One. 2016 Mar 2;11(3). PMID: 26933844
Freed D, Stevens EL, Pevsner J. Somatic mosaicism in the human genome. Genes (Basel). 2014 Dec 11;5(4):1064-94. PMID: 25513881
Debeljak M, Freed DN, Welch JA, Haley L, Beierl K, Iglehart BS, Pallavajjala A, Gocke CD, Leffell MS, Lin MT, Pevsner J, Wheelan SJ, Eshleman JR. Haplotype counting by next-generation sequencing for ultrasensitive human DNA detection. J Mol Diagn. 2014 Sep;16(5):495-503. PMID: 25132481
Srivastava S, Cohen J, Pevsner J, Aradhya S, McKnight D, Butler E, Johnston M, Fatemi A. A novel variant in GABRB2 associated with intellectual disability and epilepsy. Am J Med Genet A. 2014 Nov;164A(11):2914-21. PMID: 25124326
Horiuchi Y, Kano S, Ishizuka K, Cascella NG, Ishii S, Talbot CC Jr, Jaffe AE, Okano H, Pevsner J, Colantuoni C, Sawa A. Olfactory cells via nasal biopsy reflect the developing brain in gene expression profiles: utility and limitation of the surrogate tissues in research for brain disorders. Neurosci Res. 2013 Dec;77(4):247-50. PMID: 24120685
Comi AM, Marchuk DA, Pevsner J. A needle in a haystack: Sturge-Weber syndrome gene discovery. Pediatr Neurol. 2013 Dec;49(6):391-2. PMID: 24075845
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. PMID: 23724825
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. PMID: 23656586
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. PMID: 23549417
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. PMID: 23185369
Shirley MD, Baugher JD, Stevens EL, Tang Z, Gerry N, Beiswanger CM, Berlin DS, Pevsner J. Chromosomal variation in lymphoblastoid cell lines. Hum Mutat. 2012 Jul;33(7):1075-86. PMID: 22374857
Stevens EL, Heckenberg G, Baugher JD, Roberson ED, Downey TJ, Pevsner J. Consanguinity in Centre d'Etude du Polymorphisme Humain (CEPH) pedigrees. Eur J Hum Genet. 2012 Jun;20(6):657-67. PMID: 22274586
Stevens EL, Heckenberg G, Roberson ED, Baugher JD, Downey TJ, Pevsner J. Inference of relationships in population data using identity-by-descent and identity-by-state. PLOS Genet. 2011 Sep;7(9). PMID: 21966277
Roberson EDO and Pevsner J. Visualization of Shared Genomic Regions and Meiotic Recombination in High-Density SNP Data. PLOS One, 2009 Aug 21;4:8. PMID: 19696932
Halper-Stromberg E, Frelin L, Ruczinski I, 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 Apr 15;27(8):1052-60. PMID: 21478196
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). PMID: 20577567
Ting JC, Roberson ED, Currier DG, Pevsner J. Locations and patterns of meiotic recombination in two-generation pedigrees. BMC Med Genet. 2009 Sep 17;10:93. PMID: 19761602
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 Hum Gen 2011 Feb 19(2):235-8. PMID: 20823914
Pevsner J. Analysis of genomic DNA with the UCSC genome browser. Methods Mol Biol. 2009;537:277-301. PMID: 19378150
Miller ND, Nance MA, Wohler ES, Hoover-Fong JE, Lisi E, Thomas GH, Pevsner J. Molecular (SNP) analyses of overlapping hemizygous deletions of 10q25.3 to 10qter in four patients: evidence for HMX2 and HMX3 as candidate genes in hearing and vestibular function. Am J Med Genet A . 2009 Feb 15;149A(4):669-80. PMID: 19253379


All Publications

Autism and Rett Syndrome
Bioinformatics and Genomics
Gene Expression in Human Disease
Intracellular trafficking
Lead poisoning
Leonardo
Other