De novo variants in SETD1B are associated with intellectual disability, epilepsy and autism

Ictal single photon emission computed tomographic study of myoclonic absence seizures

(2018) Hiroko Ikeda et al.   BRAIN & DEVELOPMENT

Chromatin remodelling and DNA repair genes are frequently mutated in endometrioid endometrial carcinoma

(2017) Pablo García-Sanz et al.   INTERNATIONAL JOURNAL OF CANCER

Prevalence and architecture of de novo mutations in developmental disorders

(2017)   NATURE

Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder

(2017) Tom S. Koemans et al.   PLoS Genetics

Haploinsufficiency of KMT2B , Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia

(2016) Michael Zech et al.   AMERICAN JOURNAL OF HUMAN GENETICS

An atypical 12q24.31 microdeletion implicates six genes including a histone demethylase KDM2B and a histone methyltransferase SETD1B in syndromic intellectual disability

(2016) Jonathan D. J. Labonne et al.   HUMAN GENETICS

De novo KCNH1 mutations in four patients with syndromic developmental delay, hypotonia and seizures

(2016) Ryoko Fukai et al.   JOURNAL OF HUMAN GENETICS

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia

(2016) Esther Meyer et al.   NATURE GENETICS

M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity

(2016) Karthik A Jagadeesh et al.   NATURE GENETICS

Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders

(2016) Tarjinder Singh et al.   NATURE NEUROSCIENCE

Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability

(2016) Stefan H Lelieveld et al.   NATURE NEUROSCIENCE

Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia

(2016) Giulio Genovese et al.   NATURE NEUROSCIENCE

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Detecting copy-number variations in whole-exome sequencing data using the eXome Hidden Markov Model: an ‘exome-first’ approach

(2015) Satoko Miyatake et al.   JOURNAL OF HUMAN GENETICS

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data

(2015) Caroline F Wright et al.   LANCET

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

Rare variant discovery by deep whole-genome sequencing of 1,070 Japanese individuals

(2015) Masao Nagasaki et al.   Nature Communications

Microdeletion of 12q24.31: Report of a girl with intellectual disability, stereotypies, seizures and facial dysmorphisms

(2014) Orazio Palumbo et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Absent CNKSR2 causes seizures and intellectual, attention, and language deficits

(2014) Andrea K. Vaags et al.   ANNALS OF NEUROLOGY

The H3K4 methyltransferase Setd1a is first required at the epiblast stage, whereas Setd1b becomes essential after gastrulation

(2014) A. S. Bledau et al.   DEVELOPMENT

A population-based study of KCNH7 p.Arg394His and bipolar spectrum disorder

(2014) Kevin A. Strauss et al.   HUMAN MOLECULAR GENETICS

Frameshift mutation of a histone methylation-related gene SETD1B and its regional heterogeneity in gastric and colorectal cancers with high microsatellite instability

(2014) Youn Jin Choi et al.   HUMAN PATHOLOGY

Identification of genomic alterations in oesophageal squamous cell cancer

(2014) Yongmei Song et al.   NATURE

Genome sequencing identifies major causes of severe intellectual disability

(2014) Christian Gilissen et al.   NATURE

The contribution of de novo coding mutations to autism spectrum disorder

(2014) Ivan Iossifov et al.   NATURE

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

Loss-of-Function Variants in Schizophrenia Risk and SETD1A as a Candidate Susceptibility Gene

(2014) Atsushi Takata et al.   NEURON

De Novo Mutations in Moderate or Severe Intellectual Disability

(2014) Fadi F. Hamdan et al.   PLoS Genetics

De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood

(2013) Hirotomo Saitsu et al.   NATURE GENETICS

De Novo Mutations in MLL Cause Wiedemann-Steiner Syndrome

(2012) Wendy D. Jones et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Disruption of an EHMT1-Associated Chromatin-Modification Module Causes Intellectual Disability

(2012) Tjitske Kleefstra et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Discovery and Statistical Genotyping of Copy-Number Variation from Whole-Exome Sequencing Depth

(2012) Menachem Fromer et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The COMPASS Family of Histone H3K4 Methylases: Mechanisms of Regulation in Development and Disease Pathogenesis

(2012) Ali Shilatifard   Annual Review of Biochemistry

Clinical application of 2.7M Cytogenetics array for CNV detection in subjects with idiopathic autism and/or intellectual disability

(2012) Y Qiao et al.   CLINICAL GENETICS

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

(2012) Anita Rauch et al.   LANCET

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

(2012) Stephan J. Sanders et al.   NATURE

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

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

De Novo Gene Disruptions in Children on the Autistic Spectrum

(2012) Ivan Iossifov et al.   NEURON

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

(2012) Joep de Ligt et al.   NEW ENGLAND JOURNAL OF MEDICINE

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

(2010) Sarah B Ng et al.   NATURE GENETICS

Members of a family of JmjC domain-containing oncoproteins immortalize embryonic fibroblasts via a JmjC domain-dependent process

(2008) R. Pfau et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA