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Author Details

Jonathan Pevsner
Kennedy Krieger Institute, Johns Hopkins University School of Medicine
1984
124
50
PMIDPaper TitleJournal TitlePublished Year
34670408Endothelial <i>GNAQ</i> p.R183Q Increases ANGPT2 (Angiopoietin-2) and Drives Formation of Enlarged Blood Vessels.Arterioscler Thromb Vasc Biol2022
36162734Dysfunction of mitochondria and GABAergic interneurons in the anterior cingulate cortex of individuals with schizophrenia.Neurosci Res2022
32771470Identification of a Mosaic Activating Mutation in GNA11 in Atypical Sturge-Weber Syndrome.J Invest Dermatol2021
34124757A novel somatic mutation in GNB2 provides new insights to the pathogenesis of Sturge-Weber syndrome.Hum Mol Genet2021
32916079Mosaicism in Human Health and Disease.Annu Rev Genet2020
33426479The case for open science: rare diseases.JAMIA Open2020
33335013Characterization of an unbalanced translocation causing 3q28qter duplication and 10q26.2qter deletion in a patient with global developmental delay and self-injury.Cold Spring Harb Mol Case Stud2020
30846530Long-read single-molecule maps of the functional methylome.Genome Res2019
30219209Adolescent ο<sup>9</sup>-Tetrahydrocannabinol Exposure and Astrocyte-Specific Genetic Vulnerability Converge on Nuclear Factor-κB-Cyclooxygenase-2 Signaling to Impair Memory in Adulthood.Biol Psychiatry2019
31587863Sturge-Weber Syndrome Patient Registry: Delayed Diagnosis and Poor Seizure Control.J Pediatr2019
31579823Disruptive variants of <i>CSDE1</i> associate with autism and interfere with neuronal development and synaptic transmission.Sci Adv2019
31204062The transcriptome landscape associated with Disrupted-in-Schizophrenia-1 locus impairment in early development and adulthood.Schizophr Res2019
30853154Physical and Family History Variables Associated With Neurological and Cognitive Development in Sturge-Weber Syndrome.Pediatr Neurol2019
31055969Increased Protein Insolubility in Brains From a Subset of Patients With Schizophrenia.Am J Psychiatry2019
30967217Leonardo da Vinci's studies of the brain.Lancet2019
29884813Wireless control of cellular function by activation of a novel protein responsive to electromagnetic fields.Sci Rep2018
30075799Genetic and genomic stability across lymphoblastoid cell line expansions.BMC Res Notes2018
28038920Analysis of differential gene expression mediated by clozapine in human postmortem brains.Schizophr Res2017
28450582Intersection of diverse neuronal genomes and neuropsychiatric disease: The Brain Somatic Mosaicism Network.Science2017
28650581Deficiency of WARS2, encoding mitochondrial tryptophanyl tRNA synthetase, causes severe infantile onset leukoencephalopathy.Am J Med Genet A2017
27084428Microarray-Based Phospho-Proteomic Profiling of Complex Biological Systems.Transl Oncol2016
27727244Molecular signatures associated with cognitive deficits in schizophrenia: a study of biopsied olfactory neural epithelium.Transl Psychiatry2016
27632392The Contribution of Mosaic Variants to Autism Spectrum Disorder.PLoS Genet2016
26933844Copy Number Variants Associated with 14 Cases of Self-Injurious Behavior.PLoS One2016
25132481Haplotype counting by next-generation sequencing for ultrasensitive human DNA detection.J Mol Diagn2014
25513881Somatic mosaicism in the human genome.Genes (Basel)2014
25124326A novel variant in GABRB2 associated with intellectual disability and epilepsy.Am J Med Genet A2014
23549417Unique pharmacological actions of atypical neuroleptic quetiapine: possible role in cell cycle/fate control.Transl Psychiatry2013
24075845A needle in a haystack: Sturge-Weber syndrome gene discovery.Pediatr Neurol2013
24120685Olfactory 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 Res2013
23656586Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ.N Engl J Med2013
23724825Sensitive and specific detection of mosaic chromosomal abnormalities using the Parent-of-Origin-based Detection (POD) method.BMC Genomics2013
22374857Chromosomal variation in lymphoblastoid cell lines.Hum Mutat2012
23185369Unexpected relationships and inbreeding in HapMap phase III populations.PLoS One2012
22274586Consanguinity in Centre d'ÿtude du Polymorphisme Humain (CEPH) pedigrees.Eur J Hum Genet2012
20823914Genomic analysis of partial 21q monosomies with variable phenotypes.Eur J Hum Genet2011
21966277Inference of relationships in population data using identity-by-descent and identity-by-state.PLoS Genet2011
21478196Performance assessment of copy number microarray platforms using a spike-in experiment.Bioinformatics2011
20577567Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene.PLoS Genet2010
19253379Molecular (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 A2009
19696932Visualization of shared genomic regions and meiotic recombination in high-density SNP data.PLoS One2009
19761602Locations and patterns of meiotic recombination in two-generation pedigrees.BMC Med Genet2009
19378150Analysis of genomic DNA with the UCSC genome browser.Methods Mol Biol2009
18707534Estimating genome-wide copy number using allele-specific mixture models.J Comput Biol2008
19609370Hidden Markov models for the assessment of chromosomal alterations using high-throughput SNP arrays.Ann Appl Stat2008
18478100Efficient array-based identification of novel cardiac genes through differentiation of mouse ESCs.PLoS One2008
17204461SNPchip: R classes and methods for SNP array data.Bioinformatics2007
17999367DNA methylation signatures within the human brain.Am J Hum Genet2007
17785204HIF-dependent antitumorigenic effect of antioxidants in vivo.Cancer Cell2007
17668838Removal of cerumen from ear canal using lighted curettes.Am Fam Physician2007
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Collaborators

Solomon H Snyder
Co-authored papers 10
Ingo Ruczinski
Co-authored papers 6
Pamela Sklar
Co-authored papers 4
Andrew E Jaffe
Co-authored papers 3
Sakkubai Naidu
Kennedy Krieger Institute, Johns Hopkins Medical Institutions
Co-authored papers 3
Julie Hoover-Fong
Johns Hopkins University
Co-authored papers 3
Ada Hamosh
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Co-authored papers 2
Benilton S Carvalho
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New York University Grossman School of Medicine
Co-authored papers 2
Scott L Zeger
Co-authored papers 2
William H Westra
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Co-authored papers 2
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Norman P Gerry
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Julie S Cohen
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Lisa A Elferink
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Jian-Bing Fan
Nanfang Hospital and Basic Medical College, Southern Medical University
Co-authored papers 1
Tamar B Rubinstein
Albert Einstein College of Medicine and Children's Hospital at Montefiore
Co-authored papers 1
Shubha Suresh
Co-authored papers 1
Vincent W Yang
Co-authored papers 1
Hanno Steen
Boston Children's Hospital, USA Harvard Medical School, Harvard Medical School
Co-authored papers 1
Andrew S McCallion
Johns Hopkins University School of Medicine
Co-authored papers 1
Alison P Rockett-Frase
Joshua Frase Foundation
Co-authored papers 1
Geetha Senthil
Co-authored papers 1
Pengfei Liu
Co-authored papers 1
Ole N Jensen
VILLUM Center for Bioanalytical Sciences, University of Southern Denmark
Co-authored papers 1
Release 1.2