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
  • [41] 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.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 258 - 259
  • [42] MULTIDIMENSIONAL IMPACT OF AUTISM SPECTRUM DISORDER ASSISTANCE DOGS ON CHILDREN WITH AUTISM SPECTRUM DISORDER AND THEIR FAMILIES
    Tseng, Angela
    JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY, 2021, 60 (10): : S159 - S159
  • [43] 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.
    NATURE NEUROSCIENCE, 2019, 22 (12) : 1961 - +
  • [44] 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
    Nature Neuroscience, 2019, 22 : 1961 - 1965
  • [45] Medical History Predicts Phenotypic Differences in Autism Spectrum Disorder
    Wenger, T. L.
    Parish-Morris, J.
    Depolo, L.
    Yerys, B. E.
    Schultz, R. T.
    BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY, 2014, 100 (05) : 385 - 385
  • [46] Identifying phenotypic and physiological subgroups of preschoolers with autism spectrum disorder
    Bazelmans, Tessel
    Jones, Emily J. H.
    Ghods, Sheila
    Corrigan, Sarah
    Toth, Karen
    Charman, Tony
    Webb, Sara J.
    PSYCHOLOGICAL MEDICINE, 2023, 53 (04) : 1592 - 1602
  • [47] High resolution analysis of rare copy number variants in patients with autism spectrum disorder from Taiwan
    Chen, Chia-Hsiang
    Chen, Hsin-I.
    Chien, Wei-Hsien
    Li, Ling-Hui
    Wu, Yu-Yu
    Chiu, Yen-Nan
    Tsai, Wen-Che
    Gau, Susan Shur-Fen
    SCIENTIFIC REPORTS, 2017, 7
  • [48] High resolution analysis of rare copy number variants in patients with autism spectrum disorder from Taiwan
    Chia-Hsiang Chen
    Hsin-I. Chen
    Wei-Hsien Chien
    Ling-Hui Li
    Yu-Yu Wu
    Yen-Nan Chiu
    Wen-Che Tsai
    Susan Shur-Fen Gau
    Scientific Reports, 7
  • [49] Rare RELN variants affect Reelin-DAB1 signal transduction in autism spectrum disorder
    Sanchez-Sanchez, Sandra M.
    Magdalon, Juliana
    Griesi-Oliveira, Karina
    Yamamoto, Guilherme L.
    Santacruz-Perez, Carolina
    Fogo, Mariana
    Passos-Bueno, Maria Rita
    Sertie, Andrea L.
    HUMAN MUTATION, 2018, 39 (10) : 1372 - 1383
  • [50] Potential Impact of DSM-5 Criteria on Autism Spectrum Disorder Prevalence Estimates
    Maenner, Matthew J.
    Rice, Catherine E.
    Arneson, Carrie L.
    Cunniff, Christopher
    Schieve, Laura A.
    Carpenter, Laura A.
    Braun, Kim Van Naarden
    Kirby, Russell S.
    Bakian, Amanda V.
    Durkin, Maureen S.
    JAMA PSYCHIATRY, 2014, 71 (03) : 292 - 300