Prevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorder

被引:0
|
作者
Behrang Mahjani
Silvia De Rubeis
Christina Gustavsson Mahjani
Maureen Mulhern
Xinyi Xu
Lambertus Klei
F. Kyle Satterstrom
Jack Fu
Michael E. Talkowski
Abraham Reichenberg
Sven Sandin
Christina M. Hultman
Dorothy E. Grice
Kathryn Roeder
Bernie Devlin
Joseph D. Buxbaum
机构
[1] Icahn School of Medicine at Mount Sinai,Seaver Autism Center for Research and Treatment
[2] Icahn School of Medicine at Mount Sinai,Department of Psychiatry
[3] Karolinska Institutet,Department of Medical Epidemiology and Biostatistics
[4] Icahn School of Medicine at Mount Sinai,Friedman Brain Institute
[5] Icahn School of Medicine at Mount Sinai,The Mindich Child Health and Development Institute
[6] University of Pittsburgh School of Medicine,Department of Psychiatry
[7] Broad Institute of MIT and Harvard,Stanley Center for Psychiatric Research
[8] Broad Institute of MIT and Harvard,Program in Medical and Population Genetics
[9] Massachusetts General Hospital,Center for Genomic Medicine
[10] Massachusetts General Hospital and Harvard Medical School,Department of Neurology
[11] Carnegie Mellon University,Department of Statistics
[12] Icahn School of Medicine at Mount Sinai,Department of Genetics and Genomic Sciences
[13] Icahn School of Medicine at Mount Sinai,Department of Neuroscience
来源
关键词
Autism spectrum disorder; Copy number variant; Single nucleotide variant; Intellectual disability; Whole exome sequencing; PAGES;
D O I
暂无
中图分类号
学科分类号
摘要
引用
收藏
相关论文
共 50 条
  • [31] Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use
    Husson, Thomas
    Lecoquierre, Francois
    Cassinari, Kevin
    Charbonnier, Camille
    Quenez, Olivier
    Goldenberg, Alice
    Guerrot, Anne-Marie
    Richard, Anne-Claire
    Drouin-Garraud, Valerie
    Brehin, Anne-Claire
    Soleimani, Maryam
    Taton, Romain
    Rotharmel, Maud
    Rosier, Antoine
    Chambon, Pascal
    Le Meur, Nathalie
    Joly-Helas, Geraldine
    Saugier-Veber, Pascale
    Boland, Anne
    Deleuze, Jean-Francois
    Olaso, Robert
    Frebourg, Thierry
    Nicolas, Gael
    Guillin, Olivier
    Campion, Dominique
    [J]. TRANSLATIONAL PSYCHIATRY, 2020, 10 (01)
  • [32] Rare Pathogenic Variants Identified in Whole Exome Sequencing of Monozygotic Twins With Autism Spectrum Disorder
    Anitha, Ayyappan
    Banerjee, Moinak
    Thanseem, Ismail
    Prakash, Anil
    Melempatt, Nisha
    Sumitha, P. S.
    Iype, Mary
    Thomas, Sanjeev V.
    [J]. PEDIATRIC NEUROLOGY, 2024, 158
  • [33] Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use
    Thomas Husson
    François Lecoquierre
    Kevin Cassinari
    Camille Charbonnier
    Olivier Quenez
    Alice Goldenberg
    Anne-Marie Guerrot
    Anne-Claire Richard
    Valérie Drouin-Garraud
    Anne-Claire Brehin
    Maryam Soleimani
    Romain Taton
    Maud Rotharmel
    Antoine Rosier
    Pascal Chambon
    Nathalie Le Meur
    Géraldine Joly-Helas
    Pascale Saugier-Veber
    Anne Boland
    Jean-François Deleuze
    Robert Olaso
    Thierry Frebourg
    Gael Nicolas
    Olivier Guillin
    Dominique Campion
    [J]. Translational Psychiatry, 10
  • [34] A review of the prevalence of Autism Spectrum Disorder in Asia
    Sun, Xiang
    Allison, Carrie
    [J]. RESEARCH IN AUTISM SPECTRUM DISORDERS, 2010, 4 (02) : 156 - 167
  • [35] Estimating the prevalence of autism spectrum disorder in Lebanon
    Richa, S.
    Khoury, R.
    JRouhayem, J.
    Chammay, R.
    Kazour, F.
    Khalil, R. Bou
    Kheir, W.
    Choueifaty, D.
    Kouba-Hreich, E.
    Gerbaka, B.
    Adib, S.
    [J]. ENCEPHALE-REVUE DE PSYCHIATRIE CLINIQUE BIOLOGIQUE ET THERAPEUTIQUE, 2020, 46 (06): : 414 - 419
  • [36] The Prevalence of Suicidal Behavior in Autism Spectrum Disorder
    Huntjens, Anne
    Landlust, Annemiek
    Wissenburg, Sophie
    van der Gaag, Mark
    [J]. CRISIS-THE JOURNAL OF CRISIS INTERVENTION AND SUICIDE PREVENTION, 2024, 45 (02) : 144 - 153
  • [37] Comprehensive Analysis of Rare Variants of 101 Autism-Linked Genes in a Hungarian Cohort of Autism Spectrum Disorder Patients
    Balicza, Peter
    Varga, Noemi Agnes
    Bolgar, Bence
    Pentelenyi, Klara
    Bencsik, Renata
    Gal, Aniko
    Gezsi, Andras
    Prekop, Csilla
    Molnar, Viktor
    Molnar, Maria Judit
    [J]. FRONTIERS IN GENETICS, 2019, 10
  • [38] miRNA and lncRNA gene variants in Autism Spectrum Disorder
    Marques, A. R.
    Martiniano, H.
    Santos, J. X.
    Vilela, J.
    Asif, M.
    Oliveira, G.
    Romao, L.
    Vicente, A. M.
    [J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 258 - 259
  • [39] Autism spectrum disorder and attention deficit hyperactivity disorder have a similar burden of rare protein-truncating variants
    Satterstrom, F. Kyle
    Walters, Raymond K.
    Singh, Tarjinder
    Wigdor, Emilie M.
    Lescai, Francesco
    Demontis, Ditte
    Kosmicki, Jack A.
    Grove, Jakob
    Stevens, Christine
    Bybjerg-Grauholm, Jonas
    Baekvad-Hansen, Marie
    Palmer, Duncan S.
    Maller, Julian B.
    Nordentoft, Merete
    Mors, Ole
    Robinson, Elise B.
    Hougaard, David M.
    Werge, Thomas M.
    Mortensen, Preben Bo
    Neale, Benjamin M.
    Borglum, Anders D.
    Daly, Mark J.
    [J]. NATURE NEUROSCIENCE, 2019, 22 (12) : 1961 - +
  • [40] Autism spectrum disorder and attention deficit hyperactivity disorder have a similar burden of rare protein-truncating variants
    F. Kyle Satterstrom
    Raymond K. Walters
    Tarjinder Singh
    Emilie M. Wigdor
    Francesco Lescai
    Ditte Demontis
    Jack A. Kosmicki
    Jakob Grove
    Christine Stevens
    Jonas Bybjerg-Grauholm
    Marie Bækvad-Hansen
    Duncan S. Palmer
    Julian B. Maller
    Merete Nordentoft
    Ole Mors
    Elise B. Robinson
    David M. Hougaard
    Thomas M. Werge
    Preben Bo Mortensen
    Benjamin M. Neale
    Anders D. Børglum
    Mark J. Daly
    [J]. Nature Neuroscience, 2019, 22 : 1961 - 1965