Mutations inHECW2are associated with intellectual disability and epilepsy

Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy

(2016) Katherine L. Helbig et al.   GENETICS IN MEDICINE

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

DENND2B activates Rab13 at the leading edge of migrating cells and promotes metastatic behavior

(2015) Maria S. Ioannou et al.   JOURNAL OF CELL BIOLOGY

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

(2015) Caroline F Wright et al.   LANCET

Excess of rare, inherited truncating mutations in autism

(2015) Niklas Krumm et al.   NATURE GENETICS

Novel variation and de novo mutation rates in population-wide de novo assembled Danish trios

(2015) Søren Besenbacher et al.   Nature Communications

De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies

(2014) Silke Appenzeller et al.   AMERICAN JOURNAL OF HUMAN GENETICS

De Novo Loss-of-Function Mutations in SETD5, Encoding a Methyltransferase in a 3p25 Microdeletion Syndrome Critical Region, Cause Intellectual Disability

(2014) Detelina Grozeva et al.   AMERICAN JOURNAL OF HUMAN GENETICS

FLAGS, frequently mutated genes in public exomes

(2014) Casper Shyr et al.   BMC Medical Genomics

Enhanced utility of family-centered diagnostic exome sequencing with inheritance model–based analysis: results from 500 unselected families with undiagnosed genetic conditions

(2014) Kelly D. Farwell et al.   GENETICS IN MEDICINE

Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

(2014) Yaping Yang et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Synaptic, transcriptional and chromatin genes disrupted in autism

(2014) Silvia De Rubeis 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

Whole-genome sequence variation, population structure and demographic history of the Dutch population

(2014) Laurent C Francioli et al.   NATURE GENETICS

A framework for the interpretation of de novo mutation in human disease

(2014) Kaitlin E Samocha et al.   NATURE GENETICS

Detection of Clinically Relevant Genetic Variants in Autism Spectrum Disorder by Whole-Genome Sequencing

(2013) Yong-hui Jiang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Clinical spectrum of early onset epileptic encephalopathies caused byKCNQ2mutation

(2013) Mitsuhiro Kato et al.   EPILEPSIA

A locus on mouse Ch10 influences susceptibility to limbic seizure severity: fine mapping andin silicocandidate gene analysis

(2013) M. R. Winawer et al.   GENES BRAIN AND BEHAVIOR

The HECT Type Ubiquitin Ligase NEDL2 Is Degraded by Anaphase-promoting Complex/Cyclosome (APC/C)-Cdh1, and Its Tight Regulation Maintains the Metaphase to Anaphase Transition

(2013) Li Lu et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

De novo mutations in epileptic encephalopathies

(2013) et al.   NATURE

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1

(2013) Gemma L Carvill et al.   NATURE GENETICS

Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes

(2013) Slavé Petrovski et al.   PLoS Genetics

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

(2012) Anita Rauch et al.   LANCET

The International Mouse Phenotyping Consortium: past and future perspectives on mouse phenotyping

(2012) Steve D. M. Brown et al.   MAMMALIAN GENOME

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

(2012) Stephan J. Sanders et al.   NATURE

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

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

Exome sequencing supports a de novo mutational paradigm for schizophrenia

(2011) Bin Xu et al.   NATURE GENETICS

Identification of a novel CDKL5 exon and pathogenic mutations in patients with severe mental retardation, early-onset seizures and Rett-like features

(2011) Nils Rademacher et al.   NEUROGENETICS

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

Genetics of Early Onset Cognitive Impairment

(2010) Hans Hilger Ropers   Annual Review of Genomics and Human Genetics

SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain

(2010) Y. Liao et al.   NEUROLOGY

The GeneMANIA prediction server: biological network integration for gene prioritization and predicting gene function

(2010) David Warde-Farley et al.   NUCLEIC ACIDS RESEARCH

Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome Sequencing

(2010) J. C. Roach et al.   SCIENCE

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Disruption of ST5 is associated with mental retardation and multiple congenital anomalies

(2009) I. Gohring et al.   JOURNAL OF MEDICAL GENETICS

ELKS2α/CAST Deletion Selectively Increases Neurotransmitter Release at Inhibitory Synapses

(2009) Pascal S. Kaeser et al.   NEURON

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

(2008) C Sue Richards et al.   GENETICS IN MEDICINE