Functional DNA methylation signatures for autism spectrum disorder genomic risk loci: 16p11.2 deletions and CHD8 variants

Genome-wide DNA methylation profiling identifies convergent molecular signatures associated with idiopathic and syndromic autism in post-mortem human brain tissue

(2019) Chloe C Y Wong et al.   HUMAN MOLECULAR GENETICS

Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes

(2018) Erfan Aref-Eshghi et al.   AMERICAN JOURNAL OF HUMAN 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

Peripheral blood epi-signature of Claes-Jensen syndrome enables sensitive and specific identification of patients and healthy carriers with pathogenic mutations in KDM5C

(2018) Laila C. Schenkel et al.   Clinical Epigenetics

The defining DNA methylation signature of Kabuki syndrome enables functional assessment of genetic variants of unknown clinical significance

(2017) Erfan Aref-Eshghi et al.   Epigenetics

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

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

Identification of epigenetic signature associated with alpha thalassemia/mental retardation X-linked syndrome

(2017) Laila C. Schenkel et al.   Epigenetics & Chromatin

CRISPR/Cas9-mediated heterozygous knockout of the autism gene CHD8 and characterization of its transcriptional networks in cerebral organoids derived from iPS cells

(2017) Ping Wang et al.   Molecular Autism

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

Histone Acetylome-wide Association Study of Autism Spectrum Disorder

(2016) Wenjie Sun et al.   CELL

Withdrawn/Depressed Behaviors and Error-Related Brain Activity in Youth With Obsessive-Compulsive Disorder

(2016) Gregory L. Hanna et al.   JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY

Can we identify meaningful epigenetic effects on human brain function and related risk for mental illness?

(2016) Yuliya S Nikolova et al.   Epigenomics

Identification of a methylation profile for DNMT1-associated autosomal dominant cerebellar ataxia, deafness, and narcolepsy

(2016) Kristin D. Kernohan et al.   Clinical Epigenetics

Symmetrical Dose-Dependent DNA-Methylation Profiles in Children with Deletion or Duplication of 7q11.23

(2015) Emma Strong et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Improvement by methylphenidate and atomoxetine of social interaction deficits and recognition memory impairment in a mouse model of valproic acid-induced autism

(2015) Yuta Hara et al.   Autism Research

The Cognitive and Behavioral Phenotype of the 16p11.2 Deletion in a Clinically Ascertained Population

(2015) Ellen Hanson et al.   BIOLOGICAL PSYCHIATRY

An evaluation of statistical methods for DNA methylation microarray data analysis

(2015) Dongmei Li et al.   BMC BIOINFORMATICS

Paternal sperm DNA methylation associated with early signs of autism risk in an autism-enriched cohort

(2015) Jason I Feinberg et al.   INTERNATIONAL JOURNAL OF EPIDEMIOLOGY

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

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

NSD1 mutations generate a genome-wide DNA methylation signature

(2015) S. Choufani et al.   Nature Communications

CRISPR/Cas9-mediated heterozygous knockout of the autism gene CHD8 and characterization of its transcriptional networks in neurodevelopment

(2015) Ping Wang et al.   Molecular Autism

Mutations and Modeling of the Chromatin Remodeler CHD8 Define an Emerging Autism Etiology

(2015) Rebecca A. Barnard et al.   Frontiers in Neuroscience

Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders

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

DNA extracted from saliva for methylation studies of psychiatric traits: Evidence tissue specificity and relatedness to brain

(2014) Alicia K. Smith et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

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

Recurrent de novo mutations implicate novel genes underlying simplex autism risk

(2014) B. J. O'Roak et al.   Nature Communications

Mosaic Epigenetic Dysregulation of Ectodermal Cells in Autism Spectrum Disorder

(2014) Esther R. Berko et al.   PLoS Genetics

DNA methylation analysis of the autistic brain reveals multiple dysregulated biological pathways

(2014) S Nardone et al.   Translational Psychiatry

On the outside, looking in: A review and evaluation of the comparability of blood and brain “-omes”

(2013) Daniel S. Tylee et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

The Genetic Landscapes of Autism Spectrum Disorders

(2013) Guillaume Huguet et al.   Annual Review of Genomics and Human Genetics

The 22q11.2 Deletion Syndrome as a Window into Complex Neuropsychiatric Disorders Over the Lifespan

(2013) Rachel K. Jonas et al.   BIOLOGICAL PSYCHIATRY

Multilocus loss of DNA methylation in individuals with mutations in the histone H3 Lysine 4 Demethylase KDM5C

(2013) Daria Grafodatskaya et al.   BMC Medical Genomics

Autism spectrum disorder in the genetics clinic: a review

(2013) MT Carter et al.   CLINICAL GENETICS

Immune dysregulation in autism spectrum disorder

(2013) Daniela Briceno Noriega et al.   EUROPEAN JOURNAL OF PEDIATRICS

Converging Pathways in Autism Spectrum Disorders: Interplay between Synaptic Dysfunction and Immune Responses

(2013) Irina Voineagu et al.   Frontiers in Human Neuroscience

Methylomic analysis of monozygotic twins discordant for autism spectrum disorder and related behavioural traits

(2013) C C Y Wong et al.   MOLECULAR PSYCHIATRY

Common DNA methylation alterations in multiple brain regions in autism

(2013) C Ladd-Acosta et al.   MOLECULAR PSYCHIATRY

In utero exposure to valproic acid and autism — A current review of clinical and animal studies

(2013) Florence I. Roullet et al.   NEUROTOXICOLOGY AND TERATOLOGY

DNA methylation arrays as surrogate measures of cell mixture distribution

(2012) Eugene Houseman et al.   BMC BIOINFORMATICS

Bump hunting to identify differentially methylated regions in epigenetic epidemiology studies

(2012) Andrew E Jaffe et al.   INTERNATIONAL JOURNAL OF EPIDEMIOLOGY

A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders

(2012) Flore Zufferey et al.   JOURNAL OF MEDICAL GENETICS

Human-Specific Transcriptional Networks in the Brain

(2012) Genevieve Konopka et al.   NEURON

Differential DNA Methylation in Purified Human Blood Cells: Implications for Cell Lineage and Studies on Disease Susceptibility

(2012) Lovisa E. Reinius et al.   PLoS One

Brain Transcriptional and Epigenetic Associations with Autism

(2012) Matthew R. Ginsberg et al.   PLoS One

Modeling human cortical development in vitro using induced pluripotent stem cells

(2012) J. Mariani et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Tissue type is a major modifier of the 5-hydroxymethylcytosine content of human genes

(2011) C. E. Nestor et al.   GENOME RESEARCH

A review of research trends in physiological abnormalities in autism spectrum disorders: immune dysregulation, inflammation, oxidative stress, mitochondrial dysfunction and environmental toxicant exposures

(2011) D A Rossignol et al.   MOLECULAR PSYCHIATRY

Global methylation profiling of lymphoblastoid cell lines reveals epigenetic contributions to autism spectrum disorders and a novel autism candidate gene, RORA, whose protein product is reduced in autistic brain

(2010) AnhThu Nguyen et al.   FASEB JOURNAL

Independent filtering increases detection power for high-throughput experiments

(2010) R. Bourgon et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals

(2009) E.K. Bijlsma et al.   European Journal of Medical Genetics

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

CHD8 Is an ATP-Dependent Chromatin Remodeling Factor That Regulates  -Catenin Target Genes

(2008) B. A. Thompson et al.   MOLECULAR AND CELLULAR BIOLOGY

Advances in autism genetics: on the threshold of a new neurobiology

(2008) Brett S. Abrahams et al.   NATURE REVIEWS GENETICS

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

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