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Amino acid substitution matrices from protein blocks.

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A general framework for estimating the relative pathogenicity of human genetic variants

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ClinVar: public archive of relationships among sequence variation and human phenotype

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MutationTaster2: mutation prediction for the deep-sequencing age

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Synaptic, transcriptional and chromatin genes disrupted in autism

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The contribution of de novo coding mutations to autism spectrum disorder

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Amino Acid Difference Formula to Help Explain Protein Evolution

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Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

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Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism

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Genomic Relationships, Novel Loci, and Pleiotropic Mechanisms across Eight Psychiatric Disorders

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Rare coding variants in ten genes confer substantial risk for schizophrenia

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Evidence for 28 genetic disorders discovered by combining healthcare and research data

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Language models enable zero-shot prediction of the effects of mutations on protein function

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Variant interpretation using population databases: Lessons from gnomAD

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dbNSFP v4: a comprehensive database of transcript-specific functional predictions and annotations for human nonsynonymous and splice-site SNVs

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Rare coding variation provides insight into the genetic architecture and phenotypic context of autism

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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria

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Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes

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Common Disease Is More Complex Than Implied by the Core Gene Omnigenic Model

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Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals

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Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes

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Genomic architecture of autism from comprehensive whole-genome sequence annotation

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The Genetic Landscape of Diamond-Blackfan Anemia

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A map of constrained coding regions in the human genome

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Human gene essentiality

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Genomics, convergent neuroscience and progress in understanding autism spectrum disorder

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GRIN2A -related disorders: genotype and functional consequence predict phenotype

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Rare-variant collapsing analyses for complex traits: guidelines and applications

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Autism spectrum disorder and attention deficit hyperactivity disorder have a similar burden of rare protein-truncating variants

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Exome sequencing in bipolar disorder identifies AKAP11 as a risk gene shared with schizophrenia

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Untitled work

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A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex

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MVP predicts the pathogenicity of missense variants by deep learning

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MetaRNN: differentiating rare pathogenic and rare benign missense SNVs and InDels using deep learning

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Exome sequencing of Finnish isolates enhances rare-variant association power

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Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretationPreprint

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Improved pathogenicity prediction for rare human missense variants

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Polygenic architecture of rare coding variation across 394,783 exomes

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Genetic correlates of phenotypic heterogeneity in autism

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Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus

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De Novo Mutation in Genes Regulating Neural Stem Cell Fate in Human Congenital Hydrocephalus

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Exome sequencing identifies rare coding variants in 10 genes which confer substantial risk for schizophrenia

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Human evolved regulatory elements modulate genes involved in cortical expansion and neurodevelopmental disease susceptibility

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De novo mutations identified by exome sequencing implicate rare missense variants in SLC6A1 in schizophrenia

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Predicting functional effects of missense variants in voltage-gated sodium and calcium channels

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Measuring intolerance to mutation in human genetics

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Assessing performance of pathogenicity predictors using clinically relevant variant datasets

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A deep catalogue of protein-coding variation in 983,578 individuals

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The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing

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The female protective effect against autism spectrum disorder

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The female protective effect against autism spectrum disorder

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The contributions of rare inherited and polygenic risk to ASD in multiplex families

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De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders

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Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathy

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Low-coverage sequencing cost-effectively detects known and novel variation in underrepresented populations

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LIST-S2: taxonomy based sorting of deleterious missense mutations across species

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Updated benchmarking of variant effect predictors using deep mutational scanning

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KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum

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Schizophrenia, autism spectrum disorders and developmental disorders share specific disruptive coding mutations

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Impaired neurogenesis alters brain biomechanics in a neuroprogenitor-based genetic subtype of congenital hydrocephalus

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Predicting functional effect of missense variants using graph attention neural networks

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Estimating prevalence for limb-girdle muscular dystrophy based on public sequencing databases

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Prioritizing non-coding regions based on human genomic constraint and sequence context with deep learning

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The spectrum of intermediate SCN 8A‐related epilepsy

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Exome sequencing in obsessive–compulsive disorder reveals a burden of rare damaging coding variants

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Clinical Interpretation of Sequence Variants

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Genome interpretation using in silico predictors of variant impact

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Schizophrenia risk conferred by rare protein-truncating variants is conserved across diverse human populations

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Identification of pathogenic variant enriched regions across genes and gene familiesPreprint

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Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms

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The genomic landscape across 474 surgically accessible epileptogenic human brain lesions

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Examining the role of common variants in rare neurodevelopmental conditions

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MTR-Viewer: identifying regions within genes under purifying selection

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Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes

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An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data

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The impact of rare protein coding genetic variation on adult cognitive function

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The contribution of X-linked coding variation to severe developmental disorders

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Reduced reproductive success is associated with selective constraint on human genes

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De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder

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