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Genetics

D-Index
63
Citations
18588
World Ranking
2861
National Ranking
119

Overview

Jonathan Pevsner is affiliated with the National Institute of Mental Health in Japan. Their research primarily focuses on Biochemistry, Genetics and Molecular Biology, with a significant body of work also related to Medicine. Within these fields, Pevsner's research encompasses specialized subfields such as Genetics, Molecular Biology, Surgery, Cancer Research, and Physiology.

The main topics covered in Pevsner's work include genomic variations and chromosomal abnormalities, genomics and rare diseases, vascular malformations and hemangiomas, cancer genomics and diagnostics, histiocytic disorders and treatments, tumors and oncological cases, as well as genetic syndromes and imprinting.

Pevsner has contributed research papers to a variety of scientific publications, with frequent appearances in the following venues:

  • Nature Neuroscience (4 publications)
  • Annual Review of Genetics (1 publication)
  • Human Molecular Genetics (1 publication)
  • JAMIA Open (1 publication)
  • Genome Biology (1 publication)

Recent papers authored or co-authored by Pevsner include:

  • The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing, 2021, Nature Neuroscience
  • Mosaicism in Human Health and Disease, 2020, Annual Review of Genetics
  • A novel somatic mutation in GNB2 provides new insights to the pathogenesis of Sturge-Weber syndrome, 2021, Human Molecular Genetics
  • The case for open science: rare diseases, 2020, JAMIA Open
  • Comprehensive identification of somatic nucleotide variants in human brain tissue, 2021, Genome Biology

Jonathan Pevsner has collaborated frequently with several researchers, including:

  • Yanmei Dou
  • Jeremy Thorpe
  • Maxwell A. Sherman
  • Alexej Abyzov
  • Bo Zhou

Best Publications

  • Development of Human Protein Reference Database as an Initial Platform for Approaching Systems Biology in Humans

    Suraj Peri;Suraj Peri;J. Daniel Navarro;J. Daniel Navarro;Ramars Amanchy;Troels Z. Kristiansen;Troels Z. Kristiansen

  • Sturge–Weber Syndrome and Port-Wine Stains Caused by Somatic Mutation in GNAQ

    Matthew D. Shirley;Hao Tang;Carol J. Gallione;Joseph D. Baugher;Joseph D. Baugher

  • Specificity and regulation of a synaptic vesicle docking complex

    Jonathan Pevsner;Shu Chan Hsu;Janice E.A. Braun;Nicole Calakos

  • Postmortem brain abnormalities of the glutamate neurotransmitter system in autism

    A. E. Purcell;O. H. Jeon;A. W. Zimmerman;M. E. Blue

  • HIF-dependent antitumorigenic effect of antioxidants in vivo.

    Ping Gao;Huafeng Zhang;Ramani Dinavahi;Feng Li

  • Bioinformatics and Functional Genomics

    Jonathan Pevsner;Jonathan Pevsner

  • The biology of the mammalian Krüppel-like family of transcription factors.

    Duyen T. Dang;Jonathan Pevsner;Vincent W. Yang

  • Nitric Oxide Regulates Exocytosis by S-Nitrosylation of N-ethylmaleimide-Sensitive Factor

    Kenji Matsushita;Craig N Morrell;Beatrice Cambien;Shui Xiang Yang

  • n-Sec1: a neural-specific syntaxin-binding protein.

    Jonathan Pevsner;Shu Chan Hsu;Richard H. Scheller

  • MANF: a new mesencephalic, astrocyte-derived neurotrophic factor with selectivity for dopaminergic neurons

    Penka S. Petrova;Andrei Raibekas;Jonathan Pevsner;Noel Vigo

  • Evidence for 26 distinct acyl-coenzyme A synthetase genes in the human genome

    Paul A. Watkins;Dony Maiguel;Zhenzhen Jia;Jonathan Pevsner

  • Mitochondrial fission proteins regulate programmed cell death in yeast

    Yihru Fannjiang;Wen Chih Cheng;Sarah J. Lee;Bing Qi

  • DNA Methylation Signatures within the Human Brain

    Christine Ladd-Acosta;Jonathan Pevsner;Sarven Sabunciyan;Robert H. Yolken

  • Molecular cloning of odorant-binding protein: member of a ligand carrier family.

    Jonathan Pevsner;Randall R. Reed;Paul G. Feinstein;Solomon H. Snyder

  • Intersection of diverse neuronal genomes and neuropsychiatric disease: The Brain Somatic Mosaicism Network

    Michael J. McConnell;John V. Moran;Alexej Abyzov;Schahram Akbarian

  • Regulation of CFTR chloride channels by syntaxin and Munc18 isoforms

    Anjaparavanda P. Naren;Deborah J. Nelson;Weiwen Xie;Biljana Jovov

  • Global up-regulation of chromosome 21 gene expression in the developing Down syndrome brain.

    Rong Mao;Carol L. Zielke;H. Ronald Zielke;Jonathan Pevsner;Jonathan Pevsner

  • The three-dimensional structure of bovine odorant binding protein and its mechanism of odor recognition.

    M.A Bianchet;G Bains;P Pelosi;J Pevsner;J Pevsner

  • The expanding β4-galactosyltransferase gene family: messages from the databanks

    Neng Wen Lo;Joel H. Shaper;Jonathan Pevsner;Nancy L. Shaper

  • Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene.

    Nara L. M. Sobreira;Elizabeth T. Cirulli;Dimitrios Avramopoulos;Elizabeth Wohler

Frequent Co-Authors

Solomon H. Snyder
Solomon H. Snyder Johns Hopkins University School of Medicine
Akira Sawa
Akira Sawa Johns Hopkins University
George H. Thomas
George H. Thomas Kennedy Krieger Institute
Douglas A. Marchuk
Douglas A. Marchuk Duke University
Ingo Ruczinski
Ingo Ruczinski Johns Hopkins University
Walter E. Kaufmann
Walter E. Kaufmann Boston Children's Hospital
Joseph G. Gleeson
Joseph G. Gleeson University of California, San Diego
Pamela Sklar
Pamela Sklar Icahn School of Medicine at Mount Sinai
Christopher A. Walsh
Christopher A. Walsh Howard Hughes Medical Institute

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