Exome analysis of Smith–Magenis-like syndrome cohort identifies de novo likely pathogenic variants

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

(2016) Monkol Lek et al.   NATURE

The STRING database in 2017: quality-controlled protein–protein association networks, made broadly accessible

(2016) Damian Szklarczyk et al.   NUCLEIC ACIDS RESEARCH

IQSEC2 and X-linked syndromal intellectual disability

(2016) Aaron F. Alexander-Bloch et al.   PSYCHIATRIC GENETICS

Evidence for genetic regulation of mRNA expression of the dosage-sensitive gene retinoic acid induced-1 (RAI1) in human brain

(2016) Li Chen et al.   Scientific Reports

Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics

(2016) Maria Nicla Loviglio et al.   Genome Medicine

POGZ truncating alleles cause syndromic intellectual disability

(2016) Janson White et al.   Genome Medicine

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

Sleep disordered breathing in patients with Prader-Willi syndrome: A multicenter study

(2015) Martino Pavone et al.   PEDIATRIC PULMONOLOGY

Role of nucleosome remodeling in neurodevelopmental and intellectual disability disorders

(2015) Alberto J. López et al.   Frontiers in Behavioral Neuroscience

Mutations Affecting the SAND Domain of DEAF1 Cause Intellectual Disability with Severe Speech Impairment and Behavioral Problems

(2014) Anneke T. Vulto-van Silfhout et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Intellectual disability: novel mutations in DEAF1 cause speech impairment and behavioral problems

(2014) S. Waltl   CLINICAL GENETICS

De novo mutations in schizophrenia implicate chromatin remodeling and support a genetic overlap with autism and intellectual disability

(2014) S E McCarthy et al.   MOLECULAR PSYCHIATRY

Large-scale discovery of novel genetic causes of developmental disorders

(2014) T. W. Fitzgerald 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

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

(2014) Michael Ronemus et al.   NATURE REVIEWS GENETICS

Diagnosis of an imprinted-gene syndrome by a novel bioinformatics analysis of whole-genome sequences from a family trio

(2014) Dale L. Bodian et al.   Molecular Genetics & Genomic Medicine

Histone Acetylation in Neurodevelopment

(2013) Antonio Contestabile et al.   CURRENT PHARMACEUTICAL DESIGN

Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability

(2013) Frederic Tran Mau-Them et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism

(2013) Christian P Schaaf et al.   NATURE GENETICS

VarSifter: Visualizing and analyzing exome-scale sequence variation data on a desktop computer

(2012) Jamie K. Teer et al.   BIOINFORMATICS

A new paradigm emerges from the study of de novo mutations in the context of neurodevelopmental disease

(2012) C S Ku et al.   MOLECULAR PSYCHIATRY

De novo gene mutations highlight patterns of genetic and neural complexity in schizophrenia

(2012) Bin Xu et al.   NATURE GENETICS

Whole-Exome-Sequencing Identifies Mutations in Histone Acetyltransferase Gene KAT6B in Individuals with the Say-Barber-Biesecker Variant of Ohdo Syndrome

(2011) Jill Clayton-Smith et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutational analysis of the necdin gene in patients with congenital isolated hypogonadotropic hypogonadism

(2011) Daiane Beneduzzi et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Molecular Analysis of the Retinoic Acid Induced 1 Gene (RAI1) in Patients with Suspected Smith-Magenis Syndrome without the 17p11.2 Deletion

(2011) Thierry Vilboux et al.   PLoS One

Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

(2010) David T. Miller et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Automated comparative protein structure modeling with SWISS-MODEL and Swiss-PdbViewer: A historical perspective

(2010) Nicolas Guex et al.   ELECTROPHORESIS

Exome sequencing: the sweet spot before whole genomes

(2010) J. K. Teer et al.   HUMAN MOLECULAR GENETICS

Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability

(2010) Cheryl Shoubridge et al.   NATURE GENETICS

A de novo paradigm for mental retardation

(2010) Lisenka E L M Vissers et al.   NATURE GENETICS

Loss of the Prader‐Willi syndrome protein necdin causes defective migration, axonal outgrowth, and survival of embryonic sympathetic neurons

(2008) Alysa A. Tennese et al.   DEVELOPMENTAL DYNAMICS

Accurate whole human genome sequencing using reversible terminator chemistry

(2008) David R. Bentley et al.   NATURE