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De novo mutations revealed by whole-exome sequencing are strongly associated with autism

Author

Listed:
  • Stephan J. Sanders

    (Program on Neurogenetics, Child Study Center, Yale University School of Medicine, 230 South Frontage Road, New Haven, Connecticut 06520, USA)

  • Michael T. Murtha

    (Program on Neurogenetics, Child Study Center, Yale University School of Medicine, 230 South Frontage Road, New Haven, Connecticut 06520, USA)

  • Abha R. Gupta

    (Child Study Center, Yale University School of Medicine, 230 South Frontage Road, New Haven, Connecticut 06520, USA)

  • John D. Murdoch

    (Program on Neurogenetics, Child Study Center, Yale University School of Medicine, 230 South Frontage Road, New Haven, Connecticut 06520, USA)

  • Melanie J. Raubeson

    (Program on Neurogenetics, Child Study Center, Yale University School of Medicine, 230 South Frontage Road, New Haven, Connecticut 06520, USA)

  • A. Jeremy Willsey

    (Program on Neurogenetics, Child Study Center, Yale University School of Medicine, 230 South Frontage Road, New Haven, Connecticut 06520, USA)

  • A. Gulhan Ercan-Sencicek

    (Program on Neurogenetics, Child Study Center, Yale University School of Medicine, 230 South Frontage Road, New Haven, Connecticut 06520, USA)

  • Nicholas M. DiLullo

    (Program on Neurogenetics, Child Study Center, Yale University School of Medicine, 230 South Frontage Road, New Haven, Connecticut 06520, USA)

  • Neelroop N. Parikshak

    (Neurogenetics Program, UCLA, 695 Charles E. Young Dr. South, Los Angeles, California 90095, USA)

  • Jason L. Stein

    (Neurogenetics Program, UCLA, 695 Charles E. Young Dr. South, Los Angeles, California 90095, USA)

  • Michael F. Walker

    (Program on Neurogenetics, Child Study Center, Yale University School of Medicine, 230 South Frontage Road, New Haven, Connecticut 06520, USA)

  • Gordon T. Ober

    (Program on Neurogenetics, Child Study Center, Yale University School of Medicine, 230 South Frontage Road, New Haven, Connecticut 06520, USA)

  • Nicole A. Teran

    (Program on Neurogenetics, Child Study Center, Yale University School of Medicine, 230 South Frontage Road, New Haven, Connecticut 06520, USA)

  • Youeun Song

    (Program on Neurogenetics, Child Study Center, Yale University School of Medicine, 230 South Frontage Road, New Haven, Connecticut 06520, USA)

  • Paul El-Fishawy

    (Program on Neurogenetics, Child Study Center, Yale University School of Medicine, 230 South Frontage Road, New Haven, Connecticut 06520, USA)

  • Ryan C. Murtha

    (Program on Neurogenetics, Child Study Center, Yale University School of Medicine, 230 South Frontage Road, New Haven, Connecticut 06520, USA)

  • Murim Choi

    (Howard Hughes Medical Institute, Yale University School of Medicine)

  • John D. Overton

    (Howard Hughes Medical Institute, Yale University School of Medicine)

  • Robert D. Bjornson

    (Yale Center for Genome Analysis, Yale University, 51 Prospect Street, New Haven, Connecticut 06511, USA)

  • Nicholas J. Carriero

    (Yale Center for Genome Analysis, Yale University, 51 Prospect Street, New Haven, Connecticut 06511, USA)

  • Kyle A. Meyer

    (Kavli Institute for Neuroscience, Yale University School of Medicine, 333 Cedar Street, New Haven, Connecticut 06520, USA)

  • Kaya Bilguvar

    (Center for Human Genetics and Genomics, Program on Neurogenetics, Yale University School of Medicine, 333 Cedar Street, New Haven, Connecticut 06520, USA)

  • Shrikant M. Mane

    (Yale Center for Genome Analysis, 300 Heffernan Drive)

  • Nenad Šestan

    (Kavli Institute for Neuroscience, Yale University School of Medicine, 333 Cedar Street, New Haven, Connecticut 06520, USA)

  • Richard P. Lifton

    (Howard Hughes Medical Institute, Yale University School of Medicine)

  • Murat Günel

    (Center for Human Genetics and Genomics, Program on Neurogenetics, Yale University School of Medicine, 333 Cedar Street, New Haven, Connecticut 06520, USA)

  • Kathryn Roeder

    (Carnegie Mellon University, 130 DeSoto Street, Pittsburgh, Pennsylvania 15213, USA)

  • Daniel H. Geschwind

    (Neurogenetics Program, UCLA, 695 Charles E. Young Dr. South, Los Angeles, California 90095, USA)

  • Bernie Devlin

    (University of Pittsburgh School of Medicine)

  • Matthew W. State

    (Program on Neurogenetics, Child Study Center, Yale University School of Medicine, 230 South Frontage Road, New Haven, Connecticut 06520, USA)

Abstract

Rare de novo single nucleotide variants in brain-expressed genes are found to be associated with autism spectrum disorders and to carry large effects.

Suggested Citation

  • Stephan J. Sanders & Michael T. Murtha & Abha R. Gupta & John D. Murdoch & Melanie J. Raubeson & A. Jeremy Willsey & A. Gulhan Ercan-Sencicek & Nicholas M. DiLullo & Neelroop N. Parikshak & Jason L. S, 2012. "De novo mutations revealed by whole-exome sequencing are strongly associated with autism," Nature, Nature, vol. 485(7397), pages 237-241, May.
    • Handle: RePEc:nat:nature:v:485:y:2012:i:7397:d:10.1038_nature10945
    DOI: 10.1038/nature10945
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    Citations

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    Cited by:

    1. Hiroshi Yasuda & Toyoharu Tsutsui, 2013. "Assessment of Infantile Mineral Imbalances in Autism Spectrum Disorders (ASDs)," IJERPH, MDPI, vol. 10(11), pages 1-17, November.
    2. Yudong Gao & Daichi Shonai & Matthew Trn & Jieqing Zhao & Erik J. Soderblom & S. Alexandra Garcia-Moreno & Charles A. Gersbach & William C. Wetsel & Geraldine Dawson & Dmitry Velmeshev & Yong-hui Jian, 2024. "Proximity analysis of native proteomes reveals phenotypic modifiers in a mouse model of autism and related neurodevelopmental conditions," Nature Communications, Nature, vol. 15(1), pages 1-18, December.
    3. Mathilde André & Nicolas Brucato & Georgi Hudjasov & Vasili Pankratov & Danat Yermakovich & Francesco Montinaro & Rita Kreevan & Jason Kariwiga & John Muke & Anne Boland & Jean-François Deleuze & Vinc, 2024. "Positive selection in the genomes of two Papua New Guinean populations at distinct altitude levels," Nature Communications, Nature, vol. 15(1), pages 1-15, December.
    4. Chang Hoon Cho & Ilana Vasilisa Deyneko & Dylann Cordova-Martinez & Juan Vazquez & Anne S. Maguire & Jenny R. Diaz & Abigail U. Carbonell & Jaafar O. Tindi & Min-Hui Cui & Roman Fleysher & Sophie Molh, 2023. "ANKS1B encoded AIDA-1 regulates social behaviors by controlling oligodendrocyte function," Nature Communications, Nature, vol. 14(1), pages 1-20, December.
    5. Sheng Wang & Belinda Wang & Vanessa Drury & Sam Drake & Nawei Sun & Hasan Alkhairo & Juan Arbelaez & Clif Duhn & Vanessa H. Bal & Kate Langley & Joanna Martin & Pieter J. Hoekstra & Andrea Dietrich & , 2023. "Rare X-linked variants carry predominantly male risk in autism, Tourette syndrome, and ADHD," Nature Communications, Nature, vol. 14(1), pages 1-18, December.

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