4.6 Article

Genetic Diagnostic Evaluation of Trio-Based Whole Exome Sequencing Among Children With Diagnosed or Suspected Autism Spectrum Disorder

Related references

Note: Only part of the references are listed.
Article Genetics & Heredity

Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders

Holly A. F. Stessman et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2016)

Article Medicine, General & Internal

Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder

Kristiina Tammimies et al.

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2015)

Article Genetics & Heredity

A Higher Mutational Burden in Females Supports a Female Protective Model in Neurodevelopmental Disorders

Sebastien Jacquemont et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2014)

Review Medicine, General & Internal

Autism spectrum disorder: advances in evidence-based practice

Evdokia Anagnostou et al.

CANADIAN MEDICAL ASSOCIATION JOURNAL (2014)

Article Biochemistry & Molecular Biology

Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development

Raphael Bernier et al.

Article Multidisciplinary Sciences

Synaptic, transcriptional and chromatin genes disrupted in autism

Silvia De Rubeis et al.

NATURE (2014)

Article Multidisciplinary Sciences

The contribution of de novo coding mutations to autism spectrum disorder

Ivan Iossifov et al.

NATURE (2014)

Article Genetics & Heredity

A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP

Celine Helsmoortel et al.

NATURE GENETICS (2014)

Article Multidisciplinary Sciences

Recurrent de novo mutations implicate novel genes underlying simplex autism risk

B. J. O'Roak et al.

NATURE COMMUNICATIONS (2014)

Article Genetics & Heredity

Investigation of NRXN1 deletions: Clinical and molecular characterization

Mindy Preston Dabell et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2013)

Review Genetics & Heredity

From neural development to cognition: unexpected roles for chromatin

Jehnna L. Ronan et al.

NATURE REVIEWS GENETICS (2013)

Article Neurosciences

Using Whole-Exome Sequencing to Identify Inherited Causes of Autism

Timothy W. Yu et al.

NEURON (2013)

Article Genetics & Heredity

SHANK1 Deletions in Males with Autism Spectrum Disorder

Daisuke Sato et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2012)

Article Cell Biology

Genetic architecture in autism spectrum disorder

Bernie Devlin et al.

CURRENT OPINION IN GENETICS & DEVELOPMENT (2012)

Article Multidisciplinary Sciences

Patterns and rates of exonic de novo mutations in autism spectrum disorders

Benjamin M. Neale et al.

NATURE (2012)

Article Multidisciplinary Sciences

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

Stephan J. Sanders et al.

NATURE (2012)

Article Multidisciplinary Sciences

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

Brian J. O'Roak et al.

NATURE (2012)

Article Neurosciences

De Novo Gene Disruptions in Children on the Autistic Spectrum

Ivan Iossifov et al.

NEURON (2012)

Article Multidisciplinary Sciences

The Co-Morbidity Burden of Children and Young Adults with Autism Spectrum Disorders

Isaac S. Kohane et al.

PLOS ONE (2012)

Article Genetics & Heredity

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

Brian J. O'Roak et al.

NATURE GENETICS (2011)

Review Neurosciences

The conundrums of understanding genetic risks for autism spectrum disorders

Matthew W. State et al.

NATURE NEUROSCIENCE (2011)

Review Genetics & Heredity

Exome sequencing as a tool for Mendelian disease gene discovery

Michael J. Bamshad et al.

NATURE REVIEWS GENETICS (2011)

Review Neurosciences

The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13

Amber Hogart et al.

NEUROBIOLOGY OF DISEASE (2010)

Article Cell Biology

Disruption at the PTCHD1 Locus on Xp22.11 in Autism Spectrum Disorder and Intellectual Disability

Abdul Noor et al.

SCIENCE TRANSLATIONAL MEDICINE (2010)

Article Psychology, Developmental

Comorbid Psychiatric Disorders Associated with Asperger Syndrome/High-functioning Autism: A Community- and Clinic-based Study

Marja-Leena Mattila et al.

JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS (2010)

Article Genetics & Heredity

Structural variation of chromosomes in autism spectrum disorder

Christian R. Marshall et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2008)

Article Genetics & Heredity

Disruption of neurexin 1 associated with autism spectrum disorder

Hyung-Goo Kim et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2008)

Article Biochemistry & Molecular Biology

Mutations in the calcium-related gene IL1RAPL1 are associated with autism

Amelie Piton et al.

HUMAN MOLECULAR GENETICS (2008)

Review Psychology, Clinical

Regression in Autistic Spectrum Disorders

Gerry A. Stefanatos

NEUROPSYCHOLOGY REVIEW (2008)

Article Medicine, General & Internal

Association between microdeletion and microduplication at 16p11.2 and autism

Lauren A. Weiss et al.

NEW ENGLAND JOURNAL OF MEDICINE (2008)

Article Genetics & Heredity

Contribution of SHANK3 mutations to autism spectrum disorder

Rainald Moessner et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2007)

Article Multidisciplinary Sciences

IL1-receptor accessory protein-like 1 (IL1RAPL1), a protein involved in cognitive functions, regulates N-type Ca2+-channel and neurite elongation

Frederic Gambino et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2007)

Article Genetics & Heredity

Increasing knowledge of PTEN germline mutations:: Two additional patients with autism and macrocephaly

Gail E. Herman et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2007)

Article Genetics & Heredity

Essential versus complex autism: Definition of fundamental prognostic subtypes

JH Miles et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2005)