Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism

Research output: Contribution to journalJournal articleResearchpeer-review

  • F. Kyle Satterstrom
  • Jack A. Kosmicki
  • Jiebiao Wang
  • Michael S. Breen
  • Silvia De Rubeis
  • Joon Yong An
  • Minshi Peng
  • Ryan Collins
  • Jakob Grove
  • Lambertus Klei
  • Christine Stevens
  • Jennifer Reichert
  • Maureen S. Mulhern
  • Mykyta Artomov
  • Sherif Gerges
  • Brooke Sheppard
  • Xinyi Xu
  • Aparna Bhaduri
  • Utku Norman
  • Harrison Brand
  • Grace Schwartz
  • Rachel Nguyen
  • Elizabeth E. Guerrero
  • Caroline Dias
  • Branko Aleksic
  • Richard Anney
  • Mafalda Barbosa
  • Somer Bishop
  • Alfredo Brusco
  • Jonas Bybjerg-Grauholm
  • Angel Carracedo
  • Marcus C.Y. Chan
  • Andreas G. Chiocchetti
  • Brian H.Y. Chung
  • Hilary Coon
  • Michael L. Cuccaro
  • Aurora Curró
  • Bernardo Dalla Bernardina
  • Ryan Doan
  • Enrico Domenici
  • Shan Dong
  • Chiara Fallerini
  • Montserrat Fernández-Prieto
  • Giovanni Battista Ferrero
  • Nordentoft, Merete
  • Werge, Thomas
  • Vivek Appadurai
  • Marie Bækvad-Hansen
  • Christine S. Hansen
  • Carsten Bøcker Pedersen
  • iPSYCH-Broad Consortium
  • Autism Sequencing Consortium

Large-scale sequencing of patients with autism allows identification of over 100 putative ASD-associated genes, the majority of which are neuronally expressed, and investigation of distinct genetic influences on ASD compared with other neurodevelopmental disorders.

Original languageEnglish
JournalCell
Volume180
Issue number3
Pages (from-to)568-584.e23
ISSN0092-8674
DOIs
Publication statusPublished - 2020

    Research areas

  • autism spectrum disorder, cell type, cytoskeleton, excitatory neurons, excitatory-inhibitory balance, exome sequencing, genetics, inhibitory neurons, liability, neurodevelopment

ID: 260243575