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

Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability

(2016) Asbjørg Stray-Pedersen 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

Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders

(2016) Holly A.F. Stessman et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

Toward an interdisciplinary approach to understanding sensory function in autism spectrum disorder

(2016) Carissa J. Cascio et al.   Autism Research

A de novo CTNNB1 nonsense mutation associated with syndromic atypical hyperekplexia, microcephaly and intellectual disability: a case report

(2016) Anna Winczewska-Wiktor et al.   BMC Neurology

De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila

(2016) Dorien Lugtenberg et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A specific mutation inTBL1XR1causes Pierpont syndrome

(2016) Charlotte A Heinen 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

STXBP1encephalopathy

(2016) Hannah Stamberger et al.   NEUROLOGY

denovo-db: a compendium of humande novovariants

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

A Drosophila RNAi library modulates Hippo pathway-dependent tissue growth

(2016) Joseph H.A. Vissers et al.   Nature Communications

De novo genic mutations among a Chinese autism spectrum disorder cohort

(2016) Tianyun Wang et al.   Nature Communications

Histone methyltransferase Ash1L mediates activity-dependent repression of neurexin-1α

(2016) Τao Zhu et al.   Scientific Reports

POGZ truncating alleles cause syndromic intellectual disability

(2016) Janson White et al.   Genome Medicine

A New Fiji-Based Algorithm That Systematically Quantifies Nine Synaptic Parameters Provides Insights into Drosophila NMJ Morphometry

(2016) Bonnie Nijhof et al.   PLoS Computational Biology

BOD1 Is Required for Cognitive Function in Humans and Drosophila

(2016) Sahar Esmaeeli-Nieh et al.   PLoS Genetics

Reduced habituation of auditory evoked potentials indicate cortical hyper-excitability in Fragile X Syndrome

(2016) L E Ethridge et al.   Translational Psychiatry

Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome

(2015) S. Dimassi et al.   CLINICAL GENETICS

Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome

(2015) Concetta Cafiero et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A de novo FOXP1 variant in a patient with autism, intellectual disability and severe speech and language impairment

(2015) Reymundo Lozano et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Progressive brain atrophy in Schinzel–Giedion syndrome with a SETBP1 mutation

(2015) Akihito Takeuchi et al.   European Journal of Medical Genetics

Long term follow up of two independent patients with Schinzel–Giedion carrying SETBP1 mutations

(2015) Yvan Herenger et al.   European Journal of Medical Genetics

Clinical presentation of PTEN mutations in childhood in the absence of family history of Cowden syndrome

(2015) T. Busa et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Identification and functional characterization ofde novo FOXP1variants provides novel insights into the etiology of neurodevelopmental disorder

(2015) Elliot Sollis et al.   HUMAN MOLECULAR GENETICS

TRIOloss of function is associated with mild intellectual disability and affects dendritic branching and synapse function

(2015) Wei Ba et al.   HUMAN MOLECULAR GENETICS

A case of autism spectrum disorder arising from a de novo missense mutation in POGZ

(2015) Ryoko Fukai et al.   JOURNAL OF HUMAN GENETICS

Recurrent copy number variations as risk factors for neurodevelopmental disorders: critical overview and analysis of clinical implications

(2015) Fátima Torres et al.   JOURNAL OF MEDICAL GENETICS

Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID

(2015) B W M van Bon et al.   MOLECULAR PSYCHIATRY

Cell cycle networks link gene expression dysregulation, mutation, and brain maldevelopment in autistic toddlers

(2015) T. Pramparo et al.   Molecular Systems Biology

Loss of δ-catenin function in severe autism

(2015) Tychele N. Turner et al.   NATURE

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

FlyBase: establishing a Gene Group resource forDrosophila melanogaster

(2015) Helen Attrill et al.   NUCLEIC ACIDS RESEARCH

Low load for disruptive mutations in autism genes and their biased transmission

(2015) Ivan Iossifov et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans

(2015) et al.   SCIENCE

De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies

(2015) J. Homsy et al.   SCIENCE

The autism-associated chromatin modifier CHD8 regulates other autism risk genes during human neurodevelopment

(2015) Justin Cotney et al.   Nature Communications

Targeted massively parallel sequencing of autism spectrum disorder-associated genes in a case control cohort reveals rare loss-of-function risk variants

(2015) Anthony J. Griswold et al.   Molecular Autism

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

Exome sequencing identifies a de novoSCN2Amutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities

(2014) Anna-Lena Baasch et al.   EPILEPSIA

Further confirmation of the MED13L haploinsufficiency syndrome

(2014) Mieke M van Haelst et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The discovery of integrated gene networks for autism and related disorders

(2014) Fereydoun Hormozdiari et al.   GENOME RESEARCH

De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum

(2014) Alma Kuechler et al.   HUMAN GENETICS

Biochemical and cellular analysis of Ogden syndrome reveals downstream Nt-acetylation defects

(2014) Line M. Myklebust et al.   HUMAN MOLECULAR GENETICS

West Syndrome in a Patient With Schinzel-Giedion Syndrome

(2014) Fuyu Miyake et al.   JOURNAL OF CHILD NEUROLOGY

Dominant β-catenin mutations cause intellectual disability with recognizable syndromic features

(2014) Valter Tucci et al.   JOURNAL OF CLINICAL INVESTIGATION

Expansion of the clinical phenotype associated with mutations inactivity-dependent neuroprotective protein

(2014) Matthew F Pescosolido et al.   JOURNAL OF MEDICAL GENETICS

Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith–Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity

(2014) David R. Adams et al.   MOLECULAR GENETICS AND METABOLISM

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 SWI/SNF-related autism syndrome caused by de novo mutations in ADNP

(2014) Céline Helsmoortel et al.   NATURE GENETICS

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 Drosophila RNAi collection is subject to dominant phenotypic effects

(2014) Edward W Green et al.   NATURE METHODS

Network Plasticity in Adaptive Filtering and Behavioral Habituation

(2014) Mani Ramaswami   NEURON

Patches of Disorganization in the Neocortex of Children with Autism

(2014) Rich Stoner et al.   NEW ENGLAND JOURNAL OF MEDICINE

PIKEis essential for oligodendroglia development and CNS myelination

(2014) Chi Bun Chan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

CHD8regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors

(2014) Aarathi Sugathan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Recurrent de novo mutations implicate novel genes underlying simplex autism risk

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

The Autism Simplex Collection: an international, expertly phenotyped autism sample for genetic and phenotypic analyses

(2014) Joseph D Buxbaum et al.   Molecular Autism

GRIN2Bmutations in west syndrome and intellectual disability with focal epilepsy

(2013) Johannes R. Lemke et al.   ANNALS OF NEUROLOGY

Behavioral phenotype in five individuals with de novo mutations within the GRIN2B gene

(2013) Inga Freunscht et al.   Behavioral and Brain Functions

Enrichr: interactive and collaborative HTML5 gene list enrichment analysis tool

(2013) Edward Y Chen et al.   BMC BIOINFORMATICS

Early brain enlargement and elevated extra-axial fluid in infants who develop autism spectrum disorder

(2013) Mark D. Shen et al.   BRAIN

What have we learned from recent twin studies about the etiology of neurodevelopmental disorders?

(2013) Danielle Posthuma et al.   CURRENT OPINION IN NEUROLOGY

Single molecule molecular inversion probes for targeted, high-accuracy detection of low-frequency variation

(2013) J. B. Hiatt et al.   GENOME RESEARCH

CEP89 is required for mitochondrial metabolism and neuronal function in man and fly

(2013) Bregje W.M. van Bon et al.   HUMAN MOLECULAR GENETICS

Clinical Significance of De Novo and Inherited Copy-Number Variation

(2013) Anneke T. Vulto-van Silfhout et al.   HUMAN MUTATION

GATAD2Bloss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth inDrosophila

(2013) Marjolein H Willemsen et al.   JOURNAL OF MEDICAL GENETICS

De novo mutations in epileptic encephalopathies

(2013) et al.   NATURE

Molecular basis for N-terminal acetylation by the heterodimeric NatA complex

(2013) Glen Liszczak et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome

(2013) K. Nakamura et al.   NEUROLOGY

Reduced gaze aftereffects are related to difficulties categorising gaze direction in children with autism

(2013) Elizabeth Pellicano et al.   NEUROPSYCHOLOGIA

Novel de novo SCN2A Mutation in a Child With Migrating Focal Seizures of Infancy

(2013) Radhika Dhamija et al.   PEDIATRIC NEUROLOGY

Human Intellectual Disability Genes Form Conserved Functional Modules in Drosophila

(2013) Merel A. W. Oortveld et al.   PLoS Genetics

Haploinsufficiency of ARID1B , a Member of the SWI/SNF-A Chromatin-Remodeling Complex, Is a Frequent Cause of Intellectual Disability

(2012) Juliane Hoyer 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

Estimates of penetrance for recurrent pathogenic copy-number variations

(2012) Jill A. Rosenfeld et al.   GENETICS IN MEDICINE

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

(2012) Anita Rauch et al.   LANCET

Autistic-like behaviour in Scn1a +/− mice and rescue by enhanced GABA-mediated neurotransmission

(2012) Sung Han et al.   NATURE

Fiji: an open-source platform for biological-image analysis

(2012) Johannes Schindelin et al.   NATURE METHODS

Unreliable Evoked Responses in Autism

(2012) Ilan Dinstein et al.   NEURON

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

Age-Dependent Brain Gene Expression and Copy Number Anomalies in Autism Suggest Distinct Pathological Processes at Young Versus Mature Ages

(2012) Maggie L. Chow et al.   PLoS Genetics

Using VAAST to Identify an X-Linked Disorder Resulting in Lethality in Male Infants Due to N-Terminal Acetyltransferase Deficiency

(2011) Alan F. Rope et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genetic and Epigenetic Networks in Intellectual Disabilities

(2011) Hans van Bokhoven   Annual Review of Genetics

Nav2 hypomorphic mutant mice are ataxic and exhibit abnormalities in cerebellar development

(2011) Elizabeth M. McNeill et al.   DEVELOPMENTAL BIOLOGY

Balanced into array: genome-wide array analysis in 54 patients with an apparently balanced de novo chromosome rearrangement and a meta-analysis

(2011) Ilse Feenstra et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Neuron Number and Size in Prefrontal Cortex of Children With Autism

(2011) Eric Courchesne et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Epigenetic Regulation of Learning and Memory by Drosophila EHMT/G9a

(2011) Jamie M. Kramer et al.   PLOS BIOLOGY

De Novo Mutations in FOXP1 in Cases with Intellectual Disability, Autism, and Language Impairment

(2010) Fadi F. Hamdan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Longitudinal Magnetic Resonance Imaging Study of Cortical Development through Early Childhood in Autism

(2010) C. M. Schumann et al.   JOURNAL OF NEUROSCIENCE

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

(2010) Cheryl Shoubridge et al.   NATURE GENETICS

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

(2010) Sabine Endele et al.   NATURE GENETICS

The Simons Simplex Collection: A Resource for Identification of Autism Genetic Risk Factors

(2010) Gerald D. Fischbach et al.   NEURON

The STRING database in 2011: functional interaction networks of proteins, globally integrated and scored

(2010) D. Szklarczyk et al.   NUCLEIC ACIDS RESEARCH

Reduced Neural Habituation in the Amygdala and Social Impairments in Autism Spectrum Disorders

(2009) Natalia M. Kleinhans et al.   AMERICAN JOURNAL OF PSYCHIATRY

Human Protein Reference Database--2009 update

(2008) T. S. Keshava Prasad et al.   NUCLEIC ACIDS RESEARCH