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

Recurrent reciprocal copy number variants: Roles and rules in neurodevelopmental disorders

(2018) Aditi Deshpande et al.   Developmental Neurobiology

Connectivity-based parcellation reveals distinct cortico-striatal connectivity fingerprints in Autism Spectrum Disorder

(2018) Joshua H. Balsters et al.   NEUROIMAGE

Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome

(2017) Colleen M. Carlston et al.   HUMAN MUTATION

A Novel Human CAMK2A Mutation Disrupts Dendritic Morphology and Synaptic Transmission, and Causes ASD-Related Behaviors

(2017) Jason R. Stephenson et al.   JOURNAL OF NEUROSCIENCE

Shared Motivational Functions of Ventral Striatum D1 and D2 Medium Spiny Neurons

(2017) Meghan Flanigan et al.   JOURNAL OF NEUROSCIENCE

Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families

(2017) R Harripaul et al.   MOLECULAR PSYCHIATRY

MAPK3 at the Autism-Linked Human 16p11.2 Locus Influences Precise Synaptic Target Selection at Drosophila Larval Neuromuscular Junctions

(2017) Sang Mee Park et al.   MOLECULES AND CELLS

Prevalence and architecture of de novo mutations in developmental disorders

(2017)   NATURE

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

(2017) Holly A F Stessman et al.   NATURE GENETICS

Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains

(2017) Madeleine R Geisheker 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

Suppression of Sin3A activity promotes differentiation of pluripotent cells into functional neurons

(2017) Debasish Halder et al.   Scientific Reports

Varying Intolerance of Gene Pathways to Mutational Classes Explain Genetic Convergence across Neuropsychiatric Disorders

(2017) Shahar Shohat et al.   Cell Reports

Chd8 Mutation Leads to Autistic-like Behaviors and Impaired Striatal Circuits

(2017) Randall J. Platt et al.   Cell Reports

Proteomic Analysis of Post-synaptic Density Fractions from Shank3 Mutant Mice Reveals Brain Region Specific Changes Relevant to Autism Spectrum Disorder

(2017) Dominik Reim et al.   Frontiers in Molecular Neuroscience

Haploinsufficiency of BCL11A associated with cerebellar abnormalities in 2p15p16.1 deletion syndrome

(2017) Hiroko Shimbo et al.   Molecular Genetics & Genomic Medicine

De Novo Mutations in CHD4 , an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms

(2016) Karin Weiss et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA

(2016) Tychele N. Turner et al.   AMERICAN JOURNAL OF HUMAN GENETICS

CLTC as a clinically novel gene associated with multiple malformations and developmental delay

(2016) Joseph DeMari et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused byEP300mutations

(2016) Patricia Fergelot et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

KCNA4deficiency leads to a syndrome of abnormal striatum, congenital cataract and intellectual disability

(2016) Namik Kaya et al.   JOURNAL OF MEDICAL GENETICS

Mutations inHECW2are associated with intellectual disability and epilepsy

(2016) Jonatan Halvardson et al.   JOURNAL OF MEDICAL GENETICS

De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia

(2016) Esther R Berko et al.   JOURNAL OF MEDICAL GENETICS

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

(2016) Monkol Lek et al.   NATURE

Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity

(2016) Josefine S Witteveen et al.   NATURE GENETICS

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

(2016) Stefan H Lelieveld et al.   NATURE NEUROSCIENCE

Foxp2 controls synaptic wiring of corticostriatal circuits and vocal communication by opposing Mef2c

(2016) Yi-Chuan Chen et al.   NATURE NEUROSCIENCE

denovo-db: a compendium of humande novovariants

(2016) Tychele N. Turner et al.   NUCLEIC ACIDS RESEARCH

Reversal of dendritic phenotypes in 16p11.2 microduplication mouse model neurons by pharmacological targeting of a network hub

(2016) Katherine D. Blizinsky et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

MEF2C regulates cortical inhibitory and excitatory synapses and behaviors relevant to neurodevelopmental disorders

(2016) Adam J Harrington et al.   eLife

A microdeletion encompassingPHF21Ain an individual with global developmental delay and craniofacial anomalies

(2015) Jonathan D. J. Labonne et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

First glimpses of the neurobiology of autism spectrum disorder

(2015) Stephan J Sanders   CURRENT OPINION IN GENETICS & DEVELOPMENT

The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant

(2015) David A Koolen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Proteins linked to autosomal dominant and autosomal recessive disorders harbor characteristic rare missense mutation distribution patterns

(2015) Tychele N. Turner et al.   HUMAN MOLECULAR GENETICS

Whole-exome sequencing and neurite outgrowth analysis in autism spectrum disorder

(2015) Ryota Hashimoto et al.   JOURNAL OF HUMAN GENETICS

The 16p11.2 Deletion Mouse Model of Autism Exhibits Altered Cortical Progenitor Proliferation and Brain Cytoarchitecture Linked to the ERK MAPK Pathway

(2015) J. Pucilowska et al.   JOURNAL OF NEUROSCIENCE

Excess of rare, inherited truncating mutations in autism

(2015) Niklas Krumm et al.   NATURE GENETICS

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

(2015) Stephan J. Sanders et al.   NEURON

Whole-Exome Sequencing in a South American Cohort Links ALDH1A3, FOXN1 and Retinoic Acid Regulation Pathways to Autism Spectrum Disorders

(2015) Oscar A. Moreno-Ramos et al.   PLoS One

Cell types in the mouse cortex and hippocampus revealed by single-cell RNA-seq

(2015) A. Zeisel et al.   SCIENCE

De novo SCN2A splice site mutation in a boy with Autism spectrum disorder

(2014) Teresa Tavassoli et al.   BMC Medical Genetics

A Genotype-First Approach to Defining the Subtypes of a Complex Disease

(2014) Holly A. Stessman et al.   CELL

Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development

(2014) Raphael Bernier et al.   CELL

The discovery of integrated gene networks for autism and related disorders

(2014) Fereydoun Hormozdiari et al.   GENOME RESEARCH

Exome sequencing identifies de novo gain of function missense mutation in KCND2 in identical twins with autism and seizures that slows potassium channel inactivation

(2014) Hane Lee et al.   HUMAN MOLECULAR GENETICS

The clinical significance of small copy number variants in neurodevelopmental disorders

(2014) Reza Asadollahi et al.   JOURNAL OF MEDICAL GENETICS

Cell Type-Specific Expression Analysis to Identify Putative Cellular Mechanisms for Neurogenetic Disorders

(2014) X. Xu et al.   JOURNAL OF NEUROSCIENCE

Synaptic, transcriptional and chromatin genes disrupted in autism

(2014) Silvia De Rubeis et al.   NATURE

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

Refining analyses of copy number variation identifies specific genes associated with developmental delay

(2014) Bradley P Coe et al.   NATURE GENETICS

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

(2014) Kaitlin E Samocha et al.   NATURE GENETICS

Humanized Foxp2 accelerates learning by enhancing transitions from declarative to procedural performance

(2014) Christiane Schreiweis et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Changes in the Development of Striatum Are Involved in Repetitive Behavior in Autism

(2013) Marieke Langen et al.   BIOLOGICAL PSYCHIATRY

Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits

(2013) Carmela Fusco et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

PQBP1, a factor linked to intellectual disability, affects alternative splicing associated with neurite outgrowth

(2013) Q. Wang et al.   GENES & DEVELOPMENT

MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways

(2013) Alex R. Paciorkowski et al.   NEUROGENETICS

Integrated Model of De Novo and Inherited Genetic Variants Yields Greater Power to Identify Risk Genes

(2013) Xin He et al.   PLoS Genetics

Discovery and replication of gene influences on brain structure using LASSO regression

(2013) Omid Kohannim   Frontiers in Neuroscience

Whole-Genome Sequencing in Autism Identifies Hot Spots for De Novo Germline Mutation

(2012) Jacob J. Michaelson et al.   CELL

The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients

(2012) Camille Leroy et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations

(2012) Stephan Klebe et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

(2012) Anita Rauch et al.   LANCET

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

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

Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders

(2012) B. J. O'Roak et al.   SCIENCE

The Deciphering Developmental Disorders (DDD) study

(2011) HELEN V FIRTH et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities

(2011) Erin B. Kaminsky et al.   GENETICS IN MEDICINE

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

(2011) Brian J O'Roak et al.   NATURE GENETICS

A copy number variation morbidity map of developmental delay

(2011) Gregory M Cooper et al.   NATURE GENETICS

Interstitial microdeletion of 4p16.3: Contribution ofWHSC1haploinsufficiency to the pathogenesis of developmental delay in Wolf-Hirschhorn syndrome

(2010) Kosuke Izumi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes

(2010) Sabine Endele et al.   NATURE GENETICS

Analytical approaches to RNA profiling data for the identification of genes enriched in specific cells

(2010) Joseph D. Dougherty et al.   NUCLEIC ACIDS RESEARCH

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

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

Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype

(2009) T Kleefstra et al.   JOURNAL OF MEDICAL GENETICS

MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations

(2009) N. Le Meur et al.   JOURNAL OF MEDICAL GENETICS