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Genetic architecture in autism spectrum disorder

Current opinion in genetics & development, 2012-06, Vol.22 (3), p.229-237

2012

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The Yin and Yang of Autism Genetics: How Rare De Novo and Common Variations Affect Liability

Annual review of genomics and human genetics, 2017-08, Vol.18 (1), p.167-187

2017

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Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples

Nature genetics, 2017-04, Vol.49 (4), p.504-510

2017

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Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder

Science (American Association for the Advancement of Science), 2018-12, Vol.362 (6420)

2018

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

Nature communications, 2015-03, Vol.6 (1), p.6404-6404, Article 6404

2015

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Testing for an unusual distribution of rare variants

PLoS genetics, 2011-03, Vol.7 (3), p.e1001322-e1001322

2011

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

Nature, 2009-05, Vol.459 (7246), p.569-573

2009

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Integrated model of de novo and inherited genetic variants yields greater power to identify risk genes

PLoS genetics, 2013-08, Vol.9 (8), p.e1003671-e1003671

2013

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Genome-wide Transcriptome Profiling Reveals the Functional Impact of Rare De Novo and Recurrent CNVs in Autism Spectrum Disorders

American journal of human genetics, 2012-07, Vol.91 (1), p.38-55

2012

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De novo missense variants disrupting protein-protein interactions affect risk for autism through gene co-expression and protein networks in neuronal cell types

Molecular autism, 2020-10, Vol.11 (1), p.76-76, Article 76

2020

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Common genetic variants, acting additively, are a major source of risk for autism

Molecular autism, 2012-10, Vol.3 (1), p.9-9, Article 9

2012

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Schizophrenia-associated differential DNA methylation in brain is distributed across the genome and annotated to MAD1L1, a locus at which DNA methylation and transcription phenotypes share genetic variation with schizophrenia risk

Translational psychiatry, 2022-08, Vol.12 (1), p.340-340, Article 340

2022

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Discovering genetic ancestry using spectral graph theory

Genetic epidemiology, 2010-01, Vol.34 (1), p.51-59

2010

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Neural Correlates of Symptom Dimensions in Pediatric Obsessive-Compulsive Disorder: A Functional Magnetic Resonance Imaging Study

Journal of the American Academy of Child and Adolescent Psychiatry, 2009-09, Vol.48 (9), p.936-944

2009

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How rare and common risk variation jointly affect liability for autism spectrum disorder

Molecular autism, 2021-10, Vol.12 (1), p.66-66, Article 66

2021

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The unfolded protein response is activated in disease-affected brain regions in progressive supranuclear palsy and Alzheimer's disease

Acta neuropathologica communications, 2013-07, Vol.1 (1), p.31-31, Article 31

2013

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Evaluating and improving health equity and fairness of polygenic scores

HGG advances, 2024-04, Vol.5 (2), p.100280, Article 100280

2024

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Prevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorder

Molecular autism, 2021-10, Vol.12 (1), p.65-12, Article 65

2021

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Transcriptome alterations are enriched for synapse-associated genes in the striatum of subjects with obsessive-compulsive disorder

Translational psychiatry, 2021-03, Vol.11 (1), p.171-171, Article 171

2021

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Comprehensive analysis of APOE and selected proximate markers for late-onset Alzheimer's disease: Patterns of linkage disequilibrium and disease/marker association

Genomics (San Diego, Calif.), 2007-06, Vol.89 (6), p.655-665

2007

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DAWN: a framework to identify autism genes and subnetworks using gene expression and genetics

Molecular autism, 2014-03, Vol.5 (1), p.22-22, Article 22

2014

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Bayesian estimation of cell type-specific gene expression with prior derived from single-cell data

Genome research, 2021-10, Vol.31 (10), p.1807-1818

2021

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On the Use of General Control Samples for Genome-wide Association Studies: Genetic Matching Highlights Causal Variants

American journal of human genetics, 2008-02, Vol.82 (2), p.453-463

2008

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Semisoft clustering of single-cell data

Proceedings of the National Academy of Sciences - PNAS, 2019-01, Vol.116 (2), p.466-471

2019

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Using multiple measurements of tissue to estimate subject- and cell-type-specific gene expression

Bioinformatics, 2020-02, Vol.36 (3), p.782-788

2020

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Genetic architecture in autism spectrum disorder

The Yin and Yang of Autism Genetics: How Rare De Novo and Common Variations Affect Liability

Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples

Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder

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

Testing for an unusual distribution of rare variants

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

Integrated model of de novo and inherited genetic variants yields greater power to identify risk genes

Genome-wide Transcriptome Profiling Reveals the Functional Impact of Rare De Novo and Recurrent CNVs in Autism Spectrum Disorders

De novo missense variants disrupting protein-protein interactions affect risk for autism through gene co-expression and protein networks in neuronal cell types

Common genetic variants, acting additively, are a major source of risk for autism

Schizophrenia-associated differential DNA methylation in brain is distributed across the genome and annotated to MAD1L1, a locus at which DNA methylation and transcription phenotypes share genetic variation with schizophrenia risk

Discovering genetic ancestry using spectral graph theory

Neural Correlates of Symptom Dimensions in Pediatric Obsessive-Compulsive Disorder: A Functional Magnetic Resonance Imaging Study

How rare and common risk variation jointly affect liability for autism spectrum disorder

The unfolded protein response is activated in disease-affected brain regions in progressive supranuclear palsy and Alzheimer's disease

Evaluating and improving health equity and fairness of polygenic scores

Prevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorder

Transcriptome alterations are enriched for synapse-associated genes in the striatum of subjects with obsessive-compulsive disorder

Comprehensive analysis of APOE and selected proximate markers for late-onset Alzheimer's disease: Patterns of linkage disequilibrium and disease/marker association

DAWN: a framework to identify autism genes and subnetworks using gene expression and genetics

Bayesian estimation of cell type-specific gene expression with prior derived from single-cell data

On the Use of General Control Samples for Genome-wide Association Studies: Genetic Matching Highlights Causal Variants

Semisoft clustering of single-cell data

Using multiple measurements of tissue to estimate subject- and cell-type-specific gene expression

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