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J. Pevsner · SciRah

Researcher profile · Semantic Scholar

J. Pevsner

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J. Pevsner — researcher profile on SciRah

h-index: 52
Works: 160
Citations: 14K

Most-cited papers

Sturge–Weber Syndrome and Port-Wine Stains Caused by Somatic Mutation in GNAQ
M. Shirley, Hao Tang, C. Gallione, Joseph D. Baugher +6 more
2013New England Journal of Medicine961 citations Open access
Semantic Scholar
Basic Local Alignment Search Tool (BLAST)
J. Pevsner
2005943 citations
Semantic Scholar
HIF-dependent antitumorigenic effect of antioxidants in vivo.
P. Gao, Hua-Feng Zhang, Ramani Dinavahi, Feng Li +9 more
2007Cancer Cell512 citations Open access
Semantic Scholar
Evidence for 26 distinct acyl-coenzyme A synthetase genes in the human genomes⃞s⃞ The online version of this article (available at http://www.jlr.org) contains supplementary data in the form of 3 Tables. Published, JLR Papers in Press, August 30, 2007.
P. Watkins, D. Maiguel, Z. Jia, J. Pevsner
2007Journal of Lipid Research357 citations Open access
Semantic Scholar
Mitochondrial fission proteins regulate programmed cell death in yeast.
Yihru Fannjiang, Wen-Chih Cheng, Sarah J. Lee, B. Qi +5 more
2004Genes & Development325 citations Open access
Semantic Scholar
DNA methylation signatures within the human brain.
C. Ladd-Acosta, J. Pevsner, S. Sabunciyan, R. Yolken +6 more
2007American Journal of Human Genetics278 citations Open access
Semantic Scholar
Intersection of diverse neuronal genomes and neuropsychiatric disease: The Brain Somatic Mosaicism Network
M. J. McConnell, J. V. Moran, A. Abyzov, S. Akbarian +35 more
2017Science231 citations Open access
Semantic Scholar
Whole-Genome Sequencing of a Single Proband Together with Linkage Analysis Identifies a Mendelian Disease Gene
N. Sobreira, E. Cirulli, D. Avramopoulos, Elizabeth Wohler +12 more
2010PLoS Genetics218 citations Open access
Semantic Scholar
Primary and secondary transcriptional effects in the developing human Down syndrome brain and heart
Rong Mao, Xiaowen Wang, Edward L. Jr Spitznagel, L. Frelin +6 more
2005Genome Biology169 citations Open access
Semantic Scholar
FXYD1 is an MeCP2 target gene overexpressed in the brains of Rett syndrome patients and Mecp2-null mice.
Vivianne Deng, V. Matagne, F. Banine, M. Frerking +6 more
2007Human Molecular Genetics162 citations
Semantic Scholar
Somatic Mosaicism in the Human Genome
Donald Freed, Eric L Stevens, J. Pevsner
2014Genes156 citations Open access
Semantic Scholar
X-Linked Adrenoleukodystrophy: Genes, Mutations, and Phenotypes
Kirby D. Smith, S. Kemp, L. Braiterman, Jyh-Feng Lu +6 more
2004Neurochemical Research155 citations
Semantic Scholar
The Contribution of Mosaic Variants to Autism Spectrum Disorder
Donald Freed, J. Pevsner
2016PLoS Genetics120 citations Open access
Semantic Scholar
Inference of Relationships in Population Data Using Identity-by-Descent and Identity-by-State
Eric L Stevens, Greg Heckenberg, E. Roberson, Joseph D. Baugher +2 more
2011PLoS Genetics99 citations Open access
Semantic Scholar
Mosaicism in Human Health and Disease
Jeremy Thorpe, I. Osei-Owusu, B. Avigdor, R. Tupler +1 more
2020Annual Review of Genetics97 citations Open access
Semantic Scholar
A Novel Variantin GABRB2 Associated with Intellectual Disability and Epilepsy
S. Srivastava, J. Cohen, J. Pevsner, S. Aradhya +4 more
2014American Journal of Medical Genetics. Part A69 citations Open access
Semantic Scholar
Gene expression alterations over large chromosomal regions in cancers include multiple genes unrelated to malignant progression.
Brett G Masayesva, Patrick K. Ha, E. Garrett-Mayer, Thomas M. Pilkington +8 more
2004Proceedings of the National Academy of Sciences of the United States of America64 citations Open access
Semantic Scholar
Genomic analysis of partial 21q monosomies with variable phenotypes
E. Roberson, Elizabeth Wohler, J. Hoover-Fong, E. Lisi +5 more
2011European Journal of Human Genetics61 citations Open access
Semantic Scholar
Comprehensive identification of somatic nucleotide variants in human brain tissue
Yi-Fan Wang, Taejeong Bae, Jeremy Thorpe, Maxwell A. Sherman +46 more
2020Genome Biology54 citations Open access
Semantic Scholar
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
Y. Horiuchi, S. Kano, K. Ishizuka, N. Cascella +7 more
2013Neurosciences research54 citations Open access
Semantic Scholar
Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission
Hui Guo, Ying Li, Lu Shen, Tianyun Wang +69 more
2019Science Advances53 citations Open access
Semantic Scholar
Molecular Phylogeny and Evolution
J. Pevsner
200952 citations
Semantic Scholar
Long-read single-molecule maps of the functional methylome
Hila Sharim, Assaf Grunwald, Tslil Gabrieli, Yael Michaeli +22 more
2019Genome Research51 citations Open access
Semantic Scholar
Physical and Family History Variables Associated With Neurological and Cognitive Development in Sturge-Weber Syndrome
Alyssa M. Day, C. McCulloch, Adrienne M. Hammill, C. Juhász +15 more
2018Pediatric Neurology51 citations Open access
Semantic Scholar
Adolescent Δ9-THC exposure and astrocyte-specific genetic vulnerability converge on NF-κB-COX-2 signaling to impair memory in adulthood.
Y. Jouroukhin, Xiao-Lei Zhu, A. Shevelkin, Yuto Hasegawa +5 more
2018Biological Psychiatry49 citations Open access
Semantic Scholar
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
Nathaniel D. Miller, M. Nance, Elizabeth Wohler, J. Hoover-Fong +3 more
2009American Journal of Medical Genetics. Part A46 citations Open access
Semantic Scholar
Visualization of Shared Genomic Regions and Meiotic Recombination in High-Density SNP Data
E. Roberson, J. Pevsner
2009PLoS ONE46 citations Open access
Semantic Scholar
Endothelial GNAQ p.R183Q increases angiopoietin-2 and drives formation of enlarged blood vessels
Lan Huang, Colette Bichsel, Alexis L. Norris, Jeremy Thorpe +8 more
2021Arteriosclerosis, Thrombosis and Vascular Biology45 citations Open access
Semantic Scholar
The case for open science: rare diseases.
Y. Rubinstein, Peter N. Robinson, W. Gahl, P. Avillach +21 more
2020JAMIA Open44 citations Open access
Semantic Scholar
Increased Protein Insolubility in Brains From a Subset of Patients With Schizophrenia.
L. Nucifora, M. MacDonald, Brian J. Lee, M. Peters +11 more
2019American Journal of Psychiatry43 citations
Semantic Scholar
Chromosomal variation in lymphoblastoid cell lines
M. Shirley, Joseph D. Baugher, Eric L Stevens, Zhen-Ya Tang +4 more
2012Human Mutation43 citations Open access
Semantic Scholar
Visualization of uniparental inheritance, Mendelian inconsistencies, deletions, and parent of origin effects in single nucleotide polymorphism trio data with SNPtrio
Jason C. Ting, E. Roberson, Nathaniel D. Miller, Alana Lysholm-Bernacchi +5 more
2007Human Mutation43 citations Open access
Semantic Scholar
Wireless control of cellular function by activation of a novel protein responsive to electromagnetic fields
Vijai Krishnan, Sarah A Park, Samuel S. Shin, L. Alon +11 more
2018Scientific Reports42 citations Open access
Semantic Scholar
Deficiency of WARS2, encoding mitochondrial tryptophanyl tRNA synthetase, causes severe infantile onset leukoencephalopathy
Benjamin E Theisen, Anastasia Rumyantseva, J. Cohen, W. Alcaraz +6 more
2017American Journal of Medical Genetics. Part A42 citations
Semantic Scholar
A novel somatic mutation in GNB2 provides new insights to the pathogenesis of Sturge–Weber syndrome
Roar Fjær, K. Marciniak, O. Sundnes, H. Hjorthaug +14 more
2021Human Molecular Genetics36 citations Open access
Semantic Scholar
Efficient Array-Based Identification of Novel Cardiac Genes through Differentiation of Mouse ESCs
Ronald A. Miller, N. Christoforou, J. Pevsner, A. McCallion +1 more
2008PLoS ONE36 citations Open access
Semantic Scholar
Molecular signatures associated with cognitive deficits in schizophrenia: a study of biopsied olfactory neural epithelium
Y. Horiuchi, Mari A. Kondo, K. Okada, Y. Takayanagi +12 more
2016Translational Psychiatry34 citations Open access
Semantic Scholar
Identification of a mosaic activating mutation in GNA11 in atypical Sturge-Weber Syndrome
Jeremy Thorpe, L. Frelin, M. McCann, C. Pardo +3 more
2020Journal of Investigative Dermatology31 citations Open access
Semantic Scholar
Bioinformatics and Functional Genomics 3rd Edition
J. Pevsner
201531 citations
Semantic Scholar
Unique pharmacological actions of atypical neuroleptic quetiapine: possible role in cell cycle/fate control
Mari A. Kondo, K. Tajinda, C. Colantuoni, H. Hiyama +12 more
2013Translational Psychiatry27 citations Open access
Semantic Scholar
Quality of Life in Children With Sturge-Weber Syndrome
Kelly A. Harmon, Alyssa M. Day, Adrienne M. Hammill, Anna L. R. Pinto +15 more
2019Pediatric Neurology24 citations Open access
Semantic Scholar
Sensitive and specific detection of mosaic chromosomal abnormalities using the Parent-of-Origin-based Detection (POD) method
Joseph D. Baugher, B. Baugher, M. Shirley, J. Pevsner
2013BMC Genomics23 citations Open access
Semantic Scholar
Haplotype counting by next-generation sequencing for ultrasensitive human DNA detection.
Marija Debeljak, Donald Freed, J. Welch, Lisa M Haley +9 more
2014Journal of Molecular Diagnostics22 citations Open access
Semantic Scholar
Performance assessment of copy number microarray platforms using a spike-in experiment
E. Halper-Stromberg, L. Frelin, I. Ruczinski, R. Scharpf +12 more
2011Bioinform.22 citations Open access
Semantic Scholar
HIF-dependent Anti-tumorigenic Effect of Anti-oxidants In Vivo
P. Gao, Hua-Feng Zhang, Ramani Dinavahi, Feng Li +10 more
200722 citations
Semantic Scholar
Estimating Genome-wide Copy Number using Allele Specific Mixture Models
Wenyi Wang, B. Carvalho, Nathaniel D. Miller, J. Pevsner +2 more
2007Annual International Conference on Research in Computational Molecular Biology20 citations Open access
Semantic Scholar
mVps24p functions in EGF receptor sorting/trafficking from the early endosome.
Qing Yan, P. Hunt, L. Frelin, T. Vida +2 more
2005Experimental Cell Research20 citations
Semantic Scholar
FXYD 1 is an MeCP 2 target gene overexpressed in the brains of Rett syndrome patients and Mecp 2-null mice
Vivianne Deng, V. Matagne, F. Banine, M. Frerking +6 more
200718 citations
Semantic Scholar
Leonardo da Vinci's studies of the brain.
J. Pevsner
2019The Lancet17 citations
Semantic Scholar
Analysis of differential gene expression mediated by clozapine in human postmortem brains
Brian J. Lee, L. Marchionni, Carrie E Andrews, Alexis L. Norris +8 more
2016Schizophrenia Research16 citations Open access
Semantic Scholar

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