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Genetics

D-Index
62
Citations
67010
World Ranking
2924
National Ranking
1278

Overview

Jonathan Sebat is affiliated with the University of California, San Diego in the United States. Their research primarily spans the fields of Biochemistry, Genetics and Molecular Biology, with a focus on Genetics, Molecular Biology, and subfields such as Cognitive Neuroscience and Pediatrics, Perinatology and Child Health.

Their scientific contributions address several key topics, including:

  • Genomic variations and chromosomal abnormalities
  • Genetics and Neurodevelopmental Disorders
  • Genomics and Rare Diseases
  • Autism Spectrum Disorder Research
  • Congenital heart defects research
  • Genetic Associations and Epidemiology
  • RNA and protein synthesis mechanisms

Jonathan Sebat has collaborated frequently with researchers such as Marieke Klein, Sébastien Jacquemont, Omar Shanta, Bhooma Thiruvahindrapuram, and Stephen W. Scherer.

The venues in which their work is commonly published include:

  • European Neuropsychopharmacology
  • bioRxiv (Cold Spring Harbor Laboratory)
  • UNC Libraries
  • Molecular Psychiatry
  • Cell Genomics

Selected recent publications demonstrate a range of topics and methods, for example:

  • "Inferring the molecular and phenotypic impact of amino acid variants with MutPred2," 2020, Nature Communications
  • "Genomic architecture of autism from comprehensive whole-genome sequence annotation," 2022, Cell
  • "A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex," 2022, Nature Genetics
  • "Cortical organoids model early brain development disrupted by 16p11.2 copy number variants in autism," 2021, Molecular Psychiatry
  • "Genes To Mental Health (G2MH): A Framework to Map the Combined Effects of Rare and Common Variants on Dimensions of Cognition and Psychopathology," 2022, American Journal of Psychiatry

Best Publications

  • A global reference for human genetic variation.

    Adam Auton;Gonçalo R. Abecasis;David M. Altshuler;Richard M. Durbin

  • Table S2: Trans-factors and trinucleotide repeat instability Trans-factor

    Arturo López Castel;John D Cleary;Christopher E Pearson

  • Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis

    Jordan W. Smoller;Kenneth Kendler;Nicholas John Craddock;Phil Hyoun Lee

  • Strong Association of De Novo Copy Number Mutations with Autism

    Jonathan Sebat;B. Lakshmi;Dheeraj Malhotra;Jennifer Troge

  • Large-Scale Copy Number Polymorphism in the Human Genome

    Jonathan Sebat;B. Lakshmi;Jennifer Troge;Joan Alexander

  • An integrated map of structural variation in 2,504 human genomes

    Peter H. Sudmant;Tobias Rausch;Eugene J. Gardner;Robert E. Handsaker;Robert E. Handsaker

  • Rare Structural Variants Disrupt Multiple Genes in Neurodevelopmental Pathways in Schizophrenia

    Tom Walsh;Jon M. McClellan;Shane E. McCarthy;Anjené M. Addington

  • Modelling schizophrenia using human induced pluripotent stem cells.

    Kristen J. Brennand;Anthony Simone;Jessica Jou;Chelsea Gelboin-Burkhart

  • Mapping copy number variation by population-scale genome sequencing

    Ryan E. Mills;Klaudia Walter;Chip Stewart;Robert E. Handsaker

  • Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects

    Christian R Marshall;Daniel P Howrigan;Daniel P Howrigan;Daniele Merico;Bhooma Thiruvahindrapuram

  • Linkage, Association, and Gene-Expression Analyses Identify CNTNAP2 as an Autism-Susceptibility Gene

    Maricela Alarcón;Brett S. Abrahams;Jennifer L. Stone;Jacqueline A. Duvall

  • Multi-platform discovery of haplotype-resolved structural variation in human genomes

    Mark J.P. Chaisson;Mark J.P. Chaisson;Ashley D. Sanders;Xuefang Zhao;Xuefang Zhao;Ankit Malhotra

  • A global reference for human genetic variation

    Adam Auton;Gonçalo R. Abecasis;David M. Altshuler;Richard M. Durbin

  • CNVs: harbingers of a rare variant revolution in psychiatric genetics.

    Dheeraj Malhotra;Jonathan Sebat

  • Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes

    Heather C Mefford;Andrew J Sharp;Carl Baker;Andy Itsara

  • Microduplications of 16p11.2 are Associated with Schizophrenia

    Shane E. McCarthy;Vladimir Makarov;George Kirov;Anjene M. Addington

  • Sensitive and accurate detection of copy number variants using read depth of coverage

    Seungtai Yoon;Zhenyu Xuan;Vladimir Makarov;Kenny Ye

  • A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

    Santhosh Girirajan;Jill A. Rosenfeld;Gregory M. Cooper;Francesca Antonacci

  • Whole-Genome Sequencing in Autism Identifies Hot Spots for De Novo Germline Mutation

    Jacob J. Michaelson;Yujian Shi;Madhusudan Gujral;Hancheng Zheng

  • Linkage, Association, and Gene-Expression Analyses Identify CNTNAP2 as an Autism-Susceptibility Gene. Commentary

    Dietrich A. Stephan;Maricela Alarcon;Brett S. Abrahams;Jennifer L. Stone

Frequent Co-Authors

Steven A. McCarroll
Steven A. McCarroll Harvard University
Shane McCarthy
Shane McCarthy Cold Spring Harbor Laboratory
Michael Wigler
Michael Wigler Cold Spring Harbor Laboratory
Patrick F. Sullivan
Patrick F. Sullivan University of North Carolina at Chapel Hill
Michael Conlon O'Donovan
Michael Conlon O'Donovan Cardiff University
Michael Gill
Michael Gill Trinity College Dublin
Joseph G. Gleeson
Joseph G. Gleeson University of California, San Diego
Thomas G. Schulze
Thomas G. Schulze Ludwig-Maximilians-Universität München
Michael John Owen
Michael John Owen Cardiff University
Evan E. Eichler
Evan E. Eichler University of Washington

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