One gene, many neuropsychiatric disorders: lessons from Mendelian diseases

Multiplex Genome Engineering Using CRISPR/Cas Systems

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A method and server for predicting damaging missense mutations.

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Common polygenic variation contributes to risk of schizophrenia and bipolar disorder

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Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis

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Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy

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Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs

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Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

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

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FMRP Stalls Ribosomal Translocation on mRNAs Linked to Synaptic Function and Autism

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Large recurrent microdeletions associated with schizophrenia.

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Patterns and rates of exonic de novo mutations in autism spectrum disorders

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De novo mutations in schizophrenia implicate synaptic networks

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An SCN9A channelopathy causes congenital inability to experience pain

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Diagnostic exome sequencing in persons with severe intellectual disability

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De novo mutations in epileptic encephalopathies

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Human Hypertension Caused by Mutations in WNK Kinases

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De Novo Gene Disruptions in Children on the Autistic Spectrum

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Epigenetic regulation in psychiatric disorders

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Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

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Genetic architectures of psychiatric disorders: the emerging picture and its implications

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Alternative Splicing: New Insights from Global Analyses

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

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Integrative functional genomic analyses implicate specific molecular pathways and circuits in autism

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Multi-electrode array technologies for neuroscience and cardiology

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Nonsense-mediated mRNA decayin health and disease

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Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism

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De novo mutations in histone-modifying genes in congenital heart disease

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Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes

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Epistasis and quantitative traits: using model organisms to study gene–gene interactions

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Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

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Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene

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Efficient genome engineering in human pluripotent stem cells using Cas9 from <i>Neisseria meningitidis</i>

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Variability in gene expression underlies incomplete penetrance

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Modifier genes in mice and humans

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Glycyl tRNA Synthetase Mutations in Charcot-Marie-Tooth Disease Type 2D and Distal Spinal Muscular Atrophy Type V

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Spatial and Temporal Mapping of De Novo Mutations in Schizophrenia to a Fetal Prefrontal Cortical Network

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Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes.

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Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations

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One Hundred Years of Pleiotropy: A Retrospective

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Disruption of the neurexin 1 gene is associated with schizophrenia

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

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Increased exonic de novo mutation rate in individuals with schizophrenia

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Phenotypic differences in genetically identical organisms: the epigenetic perspective.

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Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations

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Variability in gene expression underlies incomplete penetrance

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De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

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Clan Genomics and the Complex Architecture of Human Disease

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EPIGENETICS AND HUMAN DISEASE

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Polygenic dissection of diagnosis and clinical dimensions of bipolar disorder and schizophrenia

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Deletions of NRXN1 (neurexin‐1) predispose to a wide spectrum of developmental disorders

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CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy

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Genetics and molecular pathogenesis of sporadic and hereditary cerebral amyloid angiopathies

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Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation

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Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individuals

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Fine mapping of ZNF804A and genome-wide significant evidence for its involvement in schizophrenia and bipolar disorder

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Modifier genes in Mendelian disorders: the example of cystic fibrosis

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Mutation of TBCE causes hypoparathyroidism– retardation–dysmorphism and autosomal recessive Kenny–Caffey syndrome

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Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders

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Sequencing studies in human genetics: design and interpretation

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Rare Deletions at 16p13.11 Predispose to a Diverse Spectrum of Sporadic Epilepsy Syndromes

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Molecular Cloning and Characterization of a Full-length Complementary DNA Encoding Human Acid Ceramidase

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Neurexin 1 (NRXN1) Deletions in Schizophrenia

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Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity

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

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A Nondegenerate Code of Deleterious Variants in Mendelian Loci Contributes to Complex Disease Risk

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Copy number variations in neurodevelopmental disorders

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Diagnostic Exome Sequencing in Persons With Severe Intellectual Disability

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The Unstable Repeats—Three Evolving Faces of Neurological Disease

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Congenital muscular dystrophies with defective glycosylation of dystroglycan

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Intragenic telSMN Mutations: Frequency, Distribution, Evidence of a Founder Effect, and Modification of the Spinal Muscular Atrophy Phenotype by cenSMN Copy Number

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Distinct Effects of Allelic NFIX Mutations on Nonsense-Mediated mRNA Decay Engender Either a Sotos-like or a Marshall-Smith Syndrome

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Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome

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Spinal Muscular Atrophy Associated with Progressive Myoclonic Epilepsy Is Caused by Mutations in ASAH1

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Dystonia with motor delay in compound heterozygotes for GTP‐cyclohydrolase I gene mutations

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PRPS1 Mutations: Four Distinct Syndromes and Potential Treatment

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Curcumin Treatment Abrogates Endoplasmic Reticulum Retention and Aggregation-Induced Apoptosis Associated with Neuropathy-Causing Myelin Protein Zero–Truncating Mutants

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Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes

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Hypomorphic mutations in meckelin ( MKS3/TMEM67 ) cause nephronophthisis with liver fibrosis (NPHP11)

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Mutations in the nervous system–specific HSN2 exon of WNK1 cause hereditary sensory neuropathy type II

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