Leveraging large genomic datasets to illuminate the pathobiology of autism spectrum disorders

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

(2020) F. Kyle Satterstrom et al.   CELL

Biomarker Acquisition and Quality Control for Multi-Site Studies: The Autism Biomarkers Consortium for Clinical Trials

(2020) Sara Jane Webb et al.   Frontiers in Integrative Neuroscience

Neonatal CSF vasopressin concentration predicts later medical record diagnoses of autism spectrum disorder

(2020) Ozge Oztan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Whole-Genome and RNA Sequencing Reveal Variation and Transcriptomic Coordination in the Developing Human Prefrontal Cortex

(2020) Donna M. Werling et al.   Cell Reports

Whole brain delivery of an instability-prone Mecp2 transgene improves behavioral and molecular pathological defects in mouse models of Rett syndrome

(2020) Mirko Luoni et al.   eLife

The Autism Biomarkers Consortium for Clinical Trials (ABC-CT): Scientific Context, Study Design, and Progress Toward Biomarker Qualification

(2020) James C. McPartland et al.   Frontiers in Integrative Neuroscience

Genetics and epigenetics of autism spectrum disorder—current evidence in the field

(2019) Barbara Wiśniowiecka-Kowalnik et al.   JOURNAL OF APPLIED GENETICS

Integrative single-cell analysis

(2019) Tim Stuart et al.   NATURE REVIEWS GENETICS

Clinical use of current polygenic risk scores may exacerbate health disparities

(2019) Alicia R. Martin et al.   NATURE GENETICS

Identification of common genetic risk variants for autism spectrum disorder

(2019) Jakob Grove et al.   NATURE GENETICS

Benefits and limitations of genome-wide association studies

(2019) Vivian Tam et al.   NATURE REVIEWS GENETICS

How genome-wide association studies (GWAS) made traditional candidate gene studies obsolete

(2019) Laramie E. Duncan et al.   NEUROPSYCHOPHARMACOLOGY

Single-cell genomics identifies cell type–specific molecular changes in autism

(2019) Dmitry Velmeshev et al.   SCIENCE

Polygenic risk scores for developmental disorders, neuromotor functioning during infancy and autistic traits in childhood

(2019) Fadila Serdarevic et al.   BIOLOGICAL PSYCHIATRY

Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders

(2019) Siddharth Srivastava et al.   GENETICS IN MEDICINE

A Single-Cell Transcriptomic Atlas of Human Neocortical Development during Mid-gestation

(2019) Damon Polioudakis et al.   NEURON

Autism spectrum disorder polygenic scores are associated with every day executive function in children admitted for clinical assessment

(2019) Tonje Torske et al.   Autism Research

Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks

(2019) Elizabeth K. Ruzzo et al.   CELL

Conserved cell types with divergent features in human versus mouse cortex

(2019) Rebecca D. Hodge et al.   NATURE

A Deep Learning Approach for Detecting Copy Number Variation in Next-Generation Sequencing Data

(2019) Tom Hill et al.   G3-Genes Genomes Genetics

Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder

(2019) Arnold Munnich et al.   Molecular Autism

Towards the Framework of Understanding Autism Spectrum Disorders

(2019) Zilong Qiu et al.   Neuroscience Bulletin

Attention-deficit hyperactivity disorder shares copy number variant risk with schizophrenia and autism spectrum disorder

(2019) Olafur O. Gudmundsson et al.   Translational Psychiatry

A Statistical Framework for Mapping Risk Genes from De Novo Mutations in Whole-Genome-Sequencing Studies

(2018) Yuwen Liu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A decade in psychiatric GWAS research

(2018) Tanya Horwitz et al.   MOLECULAR PSYCHIATRY

A single-cell RNA-seq survey of the developmental landscape of the human prefrontal cortex

(2018) Suijuan Zhong et al.   NATURE

Nanopore sequencing and assembly of a human genome with ultra-long reads

(2018) Miten Jain et al.   NATURE BIOTECHNOLOGY

An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder

(2018) Donna M. Werling et al.   NATURE GENETICS

Paternally inherited cis-regulatory structural variants are associated with autism

(2018) William M. Brandler et al.   SCIENCE

Amino acid dysregulation metabotypes: potential biomarkers for diagnosis and individualized treatment for subtypes of autism spectrum disorder

(2018) Alan M. Smith et al.   BIOLOGICAL PSYCHIATRY

The Psychiatric Cell Map Initiative: A Convergent Systems Biological Approach to Illuminating Key Molecular Pathways in Neuropsychiatric Disorders

(2018) A. Jeremy Willsey et al.   CELL

Molecular Diversity and Specializations among the Cells of the Adult Mouse Brain

(2018) Arpiar Saunders et al.   CELL

Molecular Architecture of the Mouse Nervous System

(2018) Amit Zeisel et al.   CELL

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

(2018) Lucilla Pizzo et al.   GENETICS IN MEDICINE

Joint Contributions of Rare Copy Number Variants and Common SNPs to Risk for Schizophrenia

(2018) Sarah E. Bergen et al.   AMERICAN JOURNAL OF PSYCHIATRY

Shared and distinct transcriptomic cell types across neocortical areas

(2018) Bosiljka Tasic et al.   NATURE

Lost in Translation: Traversing the Complex Path from Genomics to Therapeutics in Autism Spectrum Disorder

(2018) Nenad Sestan et al.   NEURON

CADD: predicting the deleteriousness of variants throughout the human genome

(2018) Philipp Rentzsch et al.   NUCLEIC ACIDS RESEARCH

Next-Generation Sequencing in Autism Spectrum Disorder

(2018) Stephan J. Sanders   Cold Spring Harbor Perspectives in Medicine

Pathways from autism spectrum disorder diagnosis to genetic testing

(2017) Krysta S Barton et al.   GENETICS IN MEDICINE

Annual Research Review: Early intervention for infants and young children with, or at-risk of, autism spectrum disorder: a systematic review

(2017) Lorna French et al.   JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY

Early brain development in infants at high risk for autism spectrum disorder

(2017) Heather Cody Hazlett et al.   NATURE

Integrative single-cell analysis of transcriptional and epigenetic states in the human adult brain

(2017) Blue B Lake et al.   NATURE BIOTECHNOLOGY

Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders

(2017) Daniel J Weiner et al.   NATURE GENETICS

Pooled CRISPR screening with single-cell transcriptome readout

(2017) Paul Datlinger et al.   NATURE METHODS

Single-cell analysis of experience-dependent transcriptomic states in the mouse visual cortex

(2017) Sinisa Hrvatin et al.   NATURE NEUROSCIENCE

Whole genome sequencing in psychiatric disorders: the WGSPD consortium

(2017) Stephan J. Sanders et al.   NATURE NEUROSCIENCE

Genetic architecture: the shape of the genetic contribution to human traits and disease

(2017) Nicholas J. Timpson et al.   NATURE REVIEWS GENETICS

The BRAIN Initiative Cell Census Consortium: Lessons Learned toward Generating a Comprehensive Brain Cell Atlas

(2017) Joseph R. Ecker et al.   NEURON

Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy

(2017) Jerry R. Mendell et al.   NEW ENGLAND JOURNAL OF MEDICINE

Outcomes of Diagnostic Exome Sequencing in Patients With Diagnosed or Suspected Autism Spectrum Disorders

(2017) Mari Rossi et al.   PEDIATRIC NEUROLOGY

Spatiotemporal gene expression trajectories reveal developmental hierarchies of the human cortex

(2017) Tomasz J. Nowakowski et al.   SCIENCE

Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia

(2017)   Molecular Autism

Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA

(2016) Tychele N. Turner et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Dissecting Immune Circuits by Linking CRISPR-Pooled Screens with Single-Cell RNA-Seq

(2016) Diego Adhemar Jaitin et al.   CELL

Perturb-Seq: Dissecting Molecular Circuits with Scalable Single-Cell RNA Profiling of Pooled Genetic Screens

(2016) Atray Dixit et al.   CELL

A Multiplexed Single-Cell CRISPR Screening Platform Enables Systematic Dissection of the Unfolded Protein Response

(2016) Britt Adamson et al.   CELL

Comprehensive Classification of Retinal Bipolar Neurons by Single-Cell Transcriptomics

(2016) Karthik Shekhar et al.   CELL

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

(2016) Monkol Lek et al.   NATURE

Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population

(2016) Elise B Robinson et al.   NATURE GENETICS

Adult mouse cortical cell taxonomy revealed by single cell transcriptomics

(2016) Bosiljka Tasic et al.   NATURE NEUROSCIENCE

Genome-wide prediction and functional characterization of the genetic basis of autism spectrum disorder

(2016) Arjun Krishnan et al.   NATURE NEUROSCIENCE

Developing and evaluating polygenic risk prediction models for stratified disease prevention

(2016) Nilanjan Chatterjee et al.   NATURE REVIEWS GENETICS

Results from a phase 1 study of nusinersen (ISIS-SMNRx) in children with spinal muscular atrophy

(2016) Claudia A. Chiriboga et al.   NEUROLOGY

Incorporating Functional Information in Tests of Excess De Novo Mutational Load

(2015) Yu Jiang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genotype-First Analysis of the 16p11.2 Deletion Defines a New Type of “Autism”

(2015) Michael H. Duyzend et al.   BIOLOGICAL PSYCHIATRY

Molecular Identity of Human Outer Radial Glia during Cortical Development

(2015) Alex A. Pollen et al.   CELL

Highly Parallel Genome-wide Expression Profiling of Individual Cells Using Nanoliter Droplets

(2015) Evan Z. Macosko et al.   CELL

Autism spectrum disorders: from genes to neurobiology

(2015) A Jeremy Willsey et al.   CURRENT OPINION IN NEUROBIOLOGY

Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder

(2015) Kristiina Tammimies et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Ube3a reinstatement identifies distinct developmental windows in a murine Angelman syndrome model

(2015) Sara Silva-Santos et al.   JOURNAL OF CLINICAL INVESTIGATION

Evaluating historical candidate genes for schizophrenia

(2015) M S Farrell et al.   MOLECULAR PSYCHIATRY

Reversal of phenotypes in MECP2 duplication mice using genetic rescue or antisense oligonucleotides

(2015) Yehezkel Sztainberg et al.   NATURE

Single-cell chromatin accessibility reveals principles of regulatory variation

(2015) Jason D. Buenrostro et al.   NATURE

Whole-genome sequencing of quartet families with autism spectrum disorder

(2015) Ryan K C Yuen et al.   NATURE MEDICINE

The PsychENCODE project

(2015) Schahram Akbarian et al.   NATURE NEUROSCIENCE

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

(2015) Stephan J. Sanders et al.   NEURON

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

Cell types in the mouse cortex and hippocampus revealed by single-cell RNA-seq

(2015) A. Zeisel et al.   SCIENCE

Multiplex single-cell profiling of chromatin accessibility by combinatorial cellular indexing

(2015) D. A. Cusanovich et al.   SCIENCE

Developmental Trajectories of Symptom Severity and Adaptive Functioning in an Inception Cohort of Preschool Children With Autism Spectrum Disorder

(2015) Peter Szatmari et al.   JAMA Psychiatry

Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders

(2014) Dalila Pinto et al.   AMERICAN JOURNAL OF HUMAN GENETICS

DANN: a deep learning approach for annotating the pathogenicity of genetic variants

(2014) Daniel Quang et al.   BIOINFORMATICS

Finished sequence and assembly of the DUF1220-rich 1q21 region using a haploid human genome

(2014) Majesta O’Bleness et al.   BMC GENOMICS

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

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

Biological insights from 108 schizophrenia-associated genetic loci

(2014)   NATURE

A framework for the interpretation of de novo mutation in human disease

(2014) Kaitlin E Samocha et al.   NATURE GENETICS

The role of de novo mutations in the genetics of autism spectrum disorders

(2014) Michael Ronemus et al.   NATURE REVIEWS GENETICS

Detection of Clinically Relevant Genetic Variants in Autism Spectrum Disorder by Whole-Genome Sequencing

(2013) Yong-hui Jiang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Coexpression Networks Implicate Human Midfetal Deep Cortical Projection Neurons in the Pathogenesis of Autism

(2013) A. Jeremy Willsey et al.   CELL

Integrative Functional Genomic Analyses Implicate Specific Molecular Pathways and Circuits in Autism

(2013) Neelroop N. Parikshak et al.   CELL

Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions

(2013) G. Bradley Schaefer et al.   GENETICS IN MEDICINE

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

(2013)   LANCET

Truncation of Ube3a-ATS Unsilences Paternal Ube3a and Ameliorates Behavioral Defects in the Angelman Syndrome Mouse Model

(2013) Linyan Meng et al.   PLoS Genetics

Integrated Model of De Novo and Inherited Genetic Variants Yields Greater Power to Identify Risk Genes

(2013) Xin He et al.   PLoS Genetics

Statistical challenges associated with detecting copy number variations with next-generation sequencing

(2012) Shu Mei Teo et al.   BIOINFORMATICS

Genome-Wide Association Study Implicates HLA-C*01:02 as a Risk Factor at the Major Histocompatibility Complex Locus in Schizophrenia

(2012)   BIOLOGICAL PSYCHIATRY

Individual common variants exert weak effects on the risk for autism spectrum disorders

(2012) Richard Anney et al.   HUMAN MOLECULAR GENETICS

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

(2012) Benjamin M. Neale et al.   NATURE

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

(2012) Stephan J. Sanders et al.   NATURE

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

(2012) Brian J. O’Roak et al.   NATURE

De Novo Gene Disruptions in Children on the Autistic Spectrum

(2012) Ivan Iossifov et al.   NEURON

Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders

(2012) B. J. O'Roak et al.   SCIENCE

Synaptic Dysfunction in Neurodevelopmental Disorders Associated with Autism and Intellectual Disabilities

(2012) H. Y. Zoghbi et al.   Cold Spring Harbor Perspectives in Biology

Networks of Neuronal Genes Affected by Common and Rare Variants in Autism Spectrum Disorders

(2012) Eyal Ben-David et al.   PLoS Genetics

Fecundity of Patients With Schizophrenia, Autism, Bipolar Disorder, Depression, Anorexia Nervosa, or Substance Abuse vs Their Unaffected Siblings

(2012) Robert A. Power et al.   JAMA Psychiatry

Rare Copy Number Variants in Tourette Syndrome Disrupt Genes in Histaminergic Pathways and Overlap with Autism

(2011) Thomas V. Fernandez et al.   BIOLOGICAL PSYCHIATRY

Dynamic Reconfiguration of Structural and Functional Connectivity Across Core Neurocognitive Brain Networks with Development

(2011) L. Q. Uddin et al.   JOURNAL OF NEUROSCIENCE

Spatio-temporal transcriptome of the human brain

(2011) Hyo Jung Kang et al.   NATURE

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

(2011) Brian J O'Roak et al.   NATURE GENETICS

Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4

(2011)   NATURE GENETICS

Repetitive DNA and next-generation sequencing: computational challenges and solutions

(2011) Todd J. Treangen et al.   NATURE REVIEWS GENETICS

Rare De Novo and Transmitted Copy-Number Variation in Autistic Spectrum Disorders

(2011) Dan Levy et al.   NEURON

Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism

(2011) Stephan J. Sanders et al.   NEURON

De novo rates and selection of large copy number variation

(2010) A. Itsara et al.   GENOME RESEARCH

Functional impact of global rare copy number variation in autism spectrum disorders

(2010) Dalila Pinto et al.   NATURE

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

(2010) Gerald D. Fischbach et al.   NEURON

Changing the Landscape of Autism Research: The Autism Genetic Resource Exchange

(2010) Clara M. Lajonchere   NEURON

A Genome-wide Association Study of Autism Reveals a Common Novel Risk Locus at 5p14.1

(2009) Deqiong Ma et al.   ANNALS OF HUMAN GENETICS

A genome-wide linkage and association scan reveals novel loci for autism

(2009) Lauren A. Weiss et al.   NATURE

Common polygenic variation contributes to risk of schizophrenia and bipolar disorder

(2009) Shaun M. Purcell et al.   NATURE

Common genetic variants on 5p14.1 associate with autism spectrum disorders

(2009) Kai Wang et al.   NATURE

A framework for interpreting genome-wide association studies of psychiatric disorders

(2008)   MOLECULAR PSYCHIATRY

Reversal of learning deficits in a Tsc2 +/− mouse model of tuberous sclerosis

(2008) Dan Ehninger et al.   NATURE MEDICINE

Association between Microdeletion and Microduplication at 16p11.2 and Autism

(2008) Lauren A. Weiss et al.   NEW ENGLAND JOURNAL OF MEDICINE