Functional significance of rare neuroligin 1 variants found in autism

Conditional ablation of neuroligin-1 in CA1 pyramidal neurons blocks LTP by a cell-autonomous NMDA receptor-independent mechanism

(2016) M Jiang et al.   MOLECULAR PSYCHIATRY

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

(2016) Monkol Lek et al.   NATURE

Altered Cortical Dynamics and Cognitive Function upon Haploinsufficiency of the Autism-Linked Excitatory Synaptic Suppressor MDGA2

(2016) Steven A. Connor et al.   NEURON

MECP2 disorders: from the clinic to mice and back

(2015) Laura Marie Lombardi et al.   JOURNAL OF CLINICAL INVESTIGATION

Pathogenic mechanism of an autism-associated neuroligin mutation involves altered AMPA-receptor trafficking

(2015) S Chanda et al.   MOLECULAR PSYCHIATRY

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

Excess of rare, inherited truncating mutations in autism

(2015) Niklas Krumm et al.   NATURE GENETICS

Social deficits in IRSp53 mutant mice improved by NMDAR and mGluR5 suppression

(2015) Woosuk Chung et al.   NATURE NEUROSCIENCE

From the genetic architecture to synaptic plasticity in autism spectrum disorder

(2015) Thomas Bourgeron   NATURE REVIEWS NEUROSCIENCE

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

(2015) Stephan J. Sanders et al.   NEURON

Autism-associated mutation inhibits protein kinase C-mediated neuroligin-4X enhancement of excitatory synapses

(2015) Michael A. Bemben et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Genetics and genomics of psychiatric disease

(2015) D. H. Geschwind et al.   SCIENCE

Trans-synaptic zinc mobilization improves social interaction in two mouse models of autism through NMDAR activation

(2015) Eun-Jae Lee et al.   Nature Communications

Genomic and genetic aspects of autism spectrum disorder

(2014) Xiaoxi Liu et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Synaptic, transcriptional and chromatin genes disrupted in autism

(2014) Silvia De Rubeis 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

MutationTaster2: mutation prediction for the deep-sequencing age

(2014) Jana Marie Schwarz et al.   NATURE METHODS

Epigenetic suppression of neuroligin 1 underlies amyloid-induced memory deficiency

(2014) Bihua Bie et al.   NATURE NEUROSCIENCE

Refinement and Discovery of New Hotspots of Copy-Number Variation Associated with Autism Spectrum Disorder

(2013) Santhosh Girirajan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

One-Step Generation of Mice Carrying Mutations in Multiple Genes by CRISPR/Cas-Mediated Genome Engineering

(2013) Haoyi Wang et al.   CELL

Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders

(2013) Caroline Nava et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Neuroligin1 Drives Synaptic and Behavioral Maturation through Intracellular Interactions

(2013) J. L. Hoy et al.   JOURNAL OF NEUROSCIENCE

DNA targeting specificity of RNA-guided Cas9 nucleases

(2013) Patrick D Hsu et al.   NATURE BIOTECHNOLOGY

Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes

(2013) Slavé Petrovski et al.   PLoS Genetics

SHANK1 Deletions in Males with Autism Spectrum Disorder

(2012) Daisuke Sato et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Investigation of the freely available easy-to-use software ‘EZR’ for medical statistics

(2012) Y Kanda   BONE MARROW TRANSPLANTATION

The role of neurexins and neuroligins in the formation, maturation, and function of vertebrate synapses

(2012) Dilja D Krueger et al.   CURRENT OPINION IN NEUROBIOLOGY

Predicting the Functional, Molecular, and Phenotypic Consequences of Amino Acid Substitutions using Hidden Markov Models

(2012) Hashem A. Shihab et al.   HUMAN MUTATION

Reduced Excitatory Neurotransmission and Mild Autism-Relevant Phenotypes in Adolescent Shank3 Null Mutant Mice

(2012) M. Yang et al.   JOURNAL OF NEUROSCIENCE

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

(2012) Sung Han et al.   NATURE

Autism-related deficits via dysregulated eIF4E-dependent translational control

(2012) Christos G. Gkogkas et al.   NATURE

Autistic-like social behaviour in Shank2-mutant mice improved by restoring NMDA receptor function

(2012) Hyejung Won et al.   NATURE

Neuroligin-1–dependent competition regulates cortical synaptogenesis and synapse number

(2012) Hyung-Bae Kwon et al.   NATURE NEUROSCIENCE

Transsynaptic Signaling by Activity-Dependent Cleavage of Neuroligin-1

(2012) Rui T. Peixoto et al.   NEURON

Activity-Dependent Proteolytic Cleavage of Neuroligin-1

(2012) Kunimichi Suzuki et al.   NEURON

Autism gene variant causes hyperserotonemia, serotonin receptor hypersensitivity, social impairment and repetitive behavior

(2012) J. Veenstra-VanderWeele et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Neuroligin-1 controls synaptic abundance of NMDA-type glutamate receptors through extracellular coupling

(2012) E. C. Budreck et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders

(2012) Claire S. Leblond et al.   PLoS Genetics

The conundrums of understanding genetic risks for autism spectrum disorders

(2011) Matthew W State et al.   NATURE NEUROSCIENCE

Predicting the functional impact of protein mutations: application to cancer genomics

(2011) Boris Reva et al.   NUCLEIC ACIDS RESEARCH

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Neuroligin Trafficking Deficiencies Arising from Mutations in the α/β-Hydrolase Fold Protein Family

(2010) Antonella De Jaco et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Neuroligin-1 Deletion Results in Impaired Spatial Memory and Increased Repetitive Behavior

(2010) J. Blundell et al.   JOURNAL OF NEUROSCIENCE

Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation

(2010) Simone Berkel et al.   NATURE GENETICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Altered neuroligin expression is involved in social deficits in a mouse model of the fragile X syndrome

(2009) Regina Dahlhaus et al.   BEHAVIOURAL BRAIN RESEARCH

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Abnormal Behavior in a Chromosome- Engineered Mouse Model for Human 15q11-13 Duplication Seen in Autism

(2009) Jin Nakatani et al.   CELL

Neuroligin-3-deficient mice: model of a monogenic heritable form of autism with an olfactory deficit

(2009) K. Radyushkin et al.   GENES BRAIN AND BEHAVIOR

Identification of deleterious mutations within three human genomes

(2009) S. Chun et al.   GENOME RESEARCH

A Neuroligin-4 Missense Mutation Associated with Autism Impairs Neuroligin-4 Folding and Endoplasmic Reticulum Export

(2009) C. Zhang et al.   JOURNAL OF NEUROSCIENCE

Autism genome-wide copy number variation reveals ubiquitin and neuronal genes

(2009) Joseph T. Glessner et al.   NATURE

Epac2 induces synapse remodeling and depression and its disease-associated forms alter spines

(2009) Kevin M Woolfrey et al.   NATURE NEUROSCIENCE

Genome-Wide Analyses of Exonic Copy Number Variants in a Family-Based Study Point to Novel Autism Susceptibility Genes

(2009) Maja Bucan et al.   PLoS Genetics

Minimal aberrant behavioral phenotypes of neuroligin-3 R451C knockin mice

(2008) Kathryn K. Chadman et al.   Autism Research

Neuroligins and neurexins link synaptic function to cognitive disease

(2008) Thomas C. Südhof   NATURE

Reduced social interaction and ultrasonic communication in a mouse model of monogenic heritable autism

(2008) S. Jamain et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA