A framework for an evidence-based gene list relevant to autism spectrum disorder

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

(2020) F. Kyle Satterstrom et al.   CELL

Altered spinogenesis in iPSC-derived cortical neurons from patients with autism carrying de novo SHANK3 mutations

(2019) Laura Gouder et al.   Scientific Reports

Autism spectrum disorder in a patient with a genomic rearrangement that only involves the EPHA5 gene

(2019) Giulia Pascolini et al.   PSYCHIATRIC GENETICS

Identification of common genetic risk variants for autism spectrum disorder

(2019) Jakob Grove et al.   NATURE GENETICS

Exploring the use of molecular dynamics in assessing protein variants for phenotypic alterations

(2019) Aditi Garg et al.   HUMAN MUTATION

Synaptic dysfunction in human neurons with autism-associated deletions in PTCHD1-AS

(2019) P. Joel Ross et al.   BIOLOGICAL PSYCHIATRY

Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders

(2019) Siddharth Srivastava et al.   GENETICS IN MEDICINE

Getting to the Cores of Autism

(2019) Lilia M. Iakoucheva et al.   CELL

A framework for the investigation of rare genetic disorders in neuropsychiatry

(2019) Stephan J. Sanders et al.   NATURE MEDICINE

Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes

(2019) Pamela Feliciano et al.   npj Genomic Medicine

Quantifying the Impact of Rare and Ultra-rare Coding Variation across the Phenotypic Spectrum

(2018) Andrea Ganna et al.   AMERICAN JOURNAL OF HUMAN GENETICS

How is genetic testing evaluated? A systematic review of the literature

(2018) Erica Pitini et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder

(2018) Donna M. Werling et al.   NATURE GENETICS

Communicating complex genomic information: A counselling approach derived from research experience with Autism Spectrum Disorder

(2018) Ny Hoang et al.   PATIENT EDUCATION AND COUNSELING

Case-control meta-analysis of blood DNA methylation and autism spectrum disorder

(2018) Shan V. Andrews et al.   Molecular Autism

Understanding the pediatric psychiatric phenotype of 22q11.2 deletion syndrome

(2018) Ania M. Fiksinski et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

(2018) Lucilla Pizzo et al.   GENETICS IN MEDICINE

Heterogeneity in clinical sequencing tests marketed for autism spectrum disorders

(2018) Ny Hoang et al.   npj Genomic Medicine

PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features

(2018) Raida Khalil et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation

(2018) Edgar A. Rivera-Muñoz et al.   HUMAN MUTATION

The ClinGen Epilepsy Gene Curation Expert Panel-Bridging the divide between clinical domain knowledge and formal gene curation criteria

(2018) Ingo Helbig et al.   HUMAN MUTATION

An Objective Method for Evaluating Next-Generation Sequencing Panels

(2018) Kaitlin Angione et al.   JOURNAL OF CHILD NEUROLOGY

Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity

(2018) Bradley P. Coe et al.   NATURE GENETICS

Next-Generation Sequencing in Autism Spectrum Disorder

(2018) Stephan J. Sanders   Cold Spring Harbor Perspectives in Medicine

Pathways from autism spectrum disorder diagnosis to genetic testing

(2017) Krysta S Barton et al.   GENETICS IN MEDICINE

Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications

(2017) Erica D. Smith et al.   HUMAN MUTATION

Targeted sequencing and functional analysis reveal brain-size-related genes and their networks in autism spectrum disorders

(2017) Jinchen Li et al.   MOLECULAR PSYCHIATRY

Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders

(2017) Daniel J Weiner et al.   NATURE GENETICS

Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder

(2017) Elaine T Lim et al.   NATURE NEUROSCIENCE

Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder

(2017) Ryan K C Yuen et al.   NATURE NEUROSCIENCE

Autism genetics: opportunities and challenges for clinical translation

(2017) Jacob A. S. Vorstman et al.   NATURE REVIEWS GENETICS

Environmental risk factors for autism: an evidence-based review of systematic reviews and meta-analyses

(2017) Amirhossein Modabbernia et al.   Molecular Autism

Variable phenotype expression in a family segregating microdeletions of the NRXN1 and MBD5 autism spectrum disorder susceptibility genes

(2017) Marc Woodbury-Smith et al.   npj Genomic Medicine

Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families

(2016) Virpi M. Leppa et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A de novo frameshift mutation in chromodomain helicase DNA-binding domain 8 (CHD8): A case report and literature review

(2016) Nancy Merner et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities

(2016) Debra D’Angelo et al.   JAMA Psychiatry

A Cross-Disorder Method to Identify Novel Candidate Genes for Developmental Brain Disorders

(2016) Andrea J. Gonzalez-Mantilla et al.   JAMA Psychiatry

A systematic variant annotation approach for ranking genes associated with autism spectrum disorders

(2016) Eric Larsen et al.   Molecular Autism

Recent Advances in Autism Research as Reflected in DSM-5 Criteria for Autism Spectrum Disorder

(2015) Catherine Lord et al.   Annual Review of Clinical Psychology

Genetics and genomics of autism spectrum disorder: embracing complexity

(2015) Silvia De Rubeis et al.   HUMAN MOLECULAR GENETICS

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

(2015) Kristiina Tammimies et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Gene hunting in autism spectrum disorder: on the path to precision medicine

(2015) Daniel H Geschwind et al.   LANCET NEUROLOGY

Whole-genome sequencing of quartet families with autism spectrum disorder

(2015) Ryan K C Yuen et al.   NATURE MEDICINE

Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci

(2015) Stephan J. Sanders et al.   NEURON

ClinGen — The Clinical Genome Resource

(2015) Heidi L. Rehm et al.   NEW ENGLAND JOURNAL OF MEDICINE

Genes, circuits, and precision therapies for autism and related neurodevelopmental disorders

(2015) M. Sahin et al.   SCIENCE

Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders

(2014) Dalila Pinto et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2014) Sébastien Jacquemont et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development

(2014) Raphael Bernier et al.   CELL

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes

(2014) A. C. Lionel et al.   HUMAN MOLECULAR GENETICS

Molecular and phenotypic abnormalities in individuals with germline heterozygous PTEN mutations and autism

(2014) T W Frazier et al.   MOLECULAR PSYCHIATRY

Synaptic, transcriptional and chromatin genes disrupted in autism

(2014) Silvia De Rubeis et al.   NATURE

The contribution of de novo coding mutations to autism spectrum disorder

(2014) Ivan Iossifov et al.   NATURE

The role of de novo mutations in the genetics of autism spectrum disorders

(2014) Michael Ronemus et al.   NATURE REVIEWS GENETICS

Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments

(2014) Claire S. Leblond et al.   PLoS Genetics

Autism spectrum disorder in the genetics clinic: a review

(2013) MT Carter et al.   CLINICAL GENETICS

Genetic causes of developmental disorders

(2013) Jacob A.S. Vorstman et al.   CURRENT OPINION IN NEUROLOGY

Differentiating Autism Spectrum Disorder From Other Developmental Delays In The First Two Years Of Life

(2013) Shelley Mitchell et al.   Developmental Disabilities Research Reviews

Autism

(2013) Meng-Chuan Lai et al.   LANCET

Developmental brain dysfunction: revival and expansion of old concepts based on new genetic evidence

(2013) Andres Moreno-De-Luca et al.   LANCET NEUROLOGY

Using Whole-Exome Sequencing to Identify Inherited Causes of Autism

(2013) Timothy W. Yu et al.   NEURON

Examining and interpreting the female protective effect against autistic behavior

(2013) E. B. Robinson et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

SFARI Gene 2.0: a community-driven knowledgebase for the autism spectrum disorders (ASDs)

(2013) Brett S Abrahams et al.   Molecular Autism

Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency

(2013) Latha Soorya et al.   Molecular Autism

SHANK1 Deletions in Males with Autism Spectrum Disorder

(2012) Daisuke Sato et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2012) Brian J. O’Roak et al.   NATURE

Gene therapy and neurodevelopmental disorders

(2012) Steven James Gray   NEUROPHARMACOLOGY

The many faces of pleiotropy

(2012) Annalise B. Paaby et al.   TRENDS IN GENETICS

FMR1 premutation and full mutation molecular mechanisms related to autism

(2011) Randi Hagerman et al.   Journal of Neurodevelopmental Disorders

Early Life Programming and Neurodevelopmental Disorders

(2010) Tracy L. Bale et al.   BIOLOGICAL PSYCHIATRY

Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome

(2010) C. Depienne et al.   JOURNAL OF MEDICAL GENETICS

Clinical Genetic Testing for Patients With Autism Spectrum Disorders

(2010) Y. Shen et al.   PEDIATRICS

Autism and Nonsyndromic Mental Retardation Associated with a De Novo Mutation in the NLGN4X Gene Promoter Causing an Increased Expression Level

(2009) Hussein Daoud et al.   BIOLOGICAL PSYCHIATRY

Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder

(2009) B. A. Fernandez et al.   JOURNAL OF MEDICAL GENETICS

Association between Microdeletion and Microduplication at 16p11.2 and Autism

(2008) Lauren A. Weiss et al.   NEW ENGLAND JOURNAL OF MEDICINE