Citation Impact
Citing Papers
Human cerebral organoids recapitulate gene expression programs of fetal neocortex development
2015 StandoutNobel
PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels
2015 Standout
The maternal interleukin-17a pathway in mice promotes autism-like phenotypes in offspring
2016 StandoutScience
Human-specific gene ARHGAP11B promotes basal progenitor amplification and neocortex expansion
2015 StandoutScienceNobel
Human Genome Sequencing in Health and Disease
2011
Genetic Influences on Brain Gene Expression in Rats Selected for Tameness and Aggression
2014 StandoutNobel
In-silico human genomics with GeneCards
2011
The Ensembl Variant Effect Predictor
2016 Standout
Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis
2013 Standout
Improved pathogenicity prediction for rare human missense variants
2021
Foxp-Mediated Suppression of N-Cadherin Regulates Neuroepithelial Character and Progenitor Maintenance in the CNS
2012
Discovery and functional interrogation of SARS-CoV-2 RNA-host protein interactions
2021 StandoutNobel
An integrated map of genetic variation from 1,092 human genomes
2012 StandoutNature
Long COVID: major findings, mechanisms and recommendations
2023 Standout
An Expanded View of Complex Traits: From Polygenic to Omnigenic
2017 Standout
Recent developments in the genetics of autism spectrum disorders
2013
Mutations in the gene encoding CADM1 are associated with autism spectrum disorder
2008
Pilon: An Integrated Tool for Comprehensive Microbial Variant Detection and Genome Assembly Improvement
2014 Standout
Lineage-Specific Changes in Biomarkers in Great Apes and Humans
2015 StandoutNobel
Therapeutic potential of NaV1.1 activators
2014
Variants of the CNTNAP2 5′ promoter as risk factors for autism spectrum disorders: a genetic and functional approach
2014
Candidate and non-candidate genes in behavior genetics
2012
Early behavioral intervention, brain plasticity, and the prevention of autism spectrum disorder
2008
The Intense World Theory – A Unifying Theory of the Neurobiology of Autism
2010
Deficient autophagy in microglia impairs synaptic pruning and causes social behavioral defects
2016
Selective spider toxins reveal a role for the Nav1.1 channel in mechanical pain
2016 StandoutNatureNobel
Foxp2 controls synaptic wiring of corticostriatal circuits and vocal communication by opposing Mef2c
2016 StandoutNobel
Decoding the genetics of speech and language
2012
Music training for the development of auditory skills
2010 Standout
Graph-based genome alignment and genotyping with HISAT2 and HISAT-genotype
2019 Standout
Genetics of autism spectrum disorders
2011
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
2015 Standout
Loss of Wdfy3 in mice alters cerebral cortical neurogenesis reflecting aspects of the autism pathology
2014
SynCAM 1 Adhesion Dynamically Regulates Synapse Number and Impacts Plasticity and Learning
2010 StandoutNobel
Large mosaic copy number variations confer autism risk
2021
Trends in GPCR drug discovery: new agents, targets and indications
2017 Standout
Current Developments in the Genetics of Autism: From Phenome to Genome
2008
DrugBank 4.0: shedding new light on drug metabolism
2013 Standout
Predicting the Functional Effect of Amino Acid Substitutions and Indels
2012 Standout
Are there critical periods for musical development?
2005
Predicting the sequence specificities of DNA- and RNA-binding proteins by deep learning
2015 Standout
Disruption of an Evolutionarily Novel Synaptic Expression Pattern in Autism
2016 StandoutNobel
Activity-dependent neuronal signalling and autism spectrum disorder
2013 Nature
Abnormal Fear Conditioning and Amygdala Processing in an Animal Model of Autism
2007
A general framework for estimating the relative pathogenicity of human genetic variants
2014 Standout
mRNA vaccines for infectious diseases: principles, delivery and clinical translation
2021 StandoutNobel
Mitochondria: In Sickness and in Health
2012 Standout
Neuron Number and Size in Prefrontal Cortex of Children With Autism
2011
Patches of Disorganization in the Neocortex of Children with Autism
2014 Standout
Neocortical excitation/inhibition balance in information processing and social dysfunction
2011 StandoutNature
Autistic-like behaviour in Scn1a+/− mice and rescue by enhanced GABA-mediated neurotransmission
2012 Nature
The pangenome of an agronomically important crop plant Brassica oleracea
2016 Standout
Veridical mapping in the development of exceptional autistic abilities
2012
Genetic architecture in autism spectrum disorder
2012
Exome sequencing as a tool for Mendelian disease gene discovery
2011
Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications
2014
Functional mapping and annotation of genetic associations with FUMA
2017 Standout
What does CNTNAP2 reveal about autism spectrum disorder?
2012
A guide to deep learning in healthcare
2018 Standout
Autism
2013 Standout
Applications of CRISPR technologies in research and beyond
2016 StandoutNobel
Microbiota Modulate Behavioral and Physiological Abnormalities Associated with Neurodevelopmental Disorders
2013 Standout
The Centers for Mendelian Genomics: A new large‐scale initiative to identify the genes underlying rare Mendelian conditions
2012
Repertoire Enhancement with Adoptively Transferred Female Lymphocytes Controls the Growth of Pre-Implanted Murine Prostate Cancer
2012 StandoutNobel
Arbaclofen in Children and Adolescents with Autism Spectrum Disorder: A Randomized, Controlled, Phase 2 Trial
2016
Palindromic GOLGA8 core duplicons promote chromosome 15q13.3 microdeletion and evolutionary instability
2014
Urinary p-cresol in autism spectrum disorder
2012
Prenatal Valproate Exposure and Risk of Autism Spectrum Disorders and Childhood Autism
2013 Standout
Research Domain Criteria (RDoC): Toward a New Classification Framework for Research on Mental Disorders
2010 Standout
CRISPR-Based Technologies for the Manipulation of Eukaryotic Genomes
2016 Standout
CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics
2012
A survey of tools for variant analysis of next-generation genome sequencing data
2013
A Neuroligin-4 Missense Mutation Associated with Autism Impairs Neuroligin-4 Folding and Endoplasmic Reticulum Export
2009 StandoutNobel
Autistic Traits Below the Clinical Threshold: Re-examining the Broader Autism Phenotype in the 21st Century
2011
Human-Specific Transcriptional Networks in the Brain
2012
Organoid single-cell genomic atlas uncovers human-specific features of brain development
2019 StandoutNatureNobel
Modeling neurodevelopmental disorder-associated humanAGO1mutations inCaenorhabditis elegansArgonautealg-1
2024 StandoutNobel
CADD: predicting the deleteriousness of variants throughout the human genome
2018 Standout
Early Behavioral Intervention Is Associated With Normalized Brain Activity in Young Children With Autism
2012
EDC-2: The Endocrine Society's Second Scientific Statement on Endocrine-Disrupting Chemicals
2015 Standout
Contributions of maternal and fetal antiviral immunity in congenital disease
2020 Science
Complex congenital cardiovascular anomaly in a patient with AGO1 ‐associated disorder
2022
Longer metaphase and fewer chromosome segregation errors in modern human than Neanderthal brain development
2022 StandoutNobel
Microglia Function in the Central Nervous System During Health and Neurodegeneration
2017 Standout
Neuron Number and Size in Prefrontal Cortex of Children With Autism
2012
Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing
2012
Randomized, Controlled Trial of an Intervention for Toddlers With Autism: The Early Start Denver Model
2009 Standout
Neurodevelopmental Outcomes at 1 Year in Infants of Mothers Who Tested Positive for SARS-CoV-2 During Pregnancy
2022
Candidate autism gene screen identifies critical role for cell-adhesion molecule CASPR2 in dendritic arborization and spine development
2012 StandoutNobel
A single splice site mutation in human-specific ARHGAP11B causes basal progenitor amplification
2016 StandoutNobel
Exome sequencing identifies a spectrum of mutation frequencies in advanced and lethal prostate cancers
2011
Accurate proteome-wide missense variant effect prediction with AlphaMissense
2023 StandoutScienceNobel
CRISPR/Cas9-mediated heterozygous knockout of the autism gene CHD8 and characterization of its transcriptional networks in neurodevelopment
2015
A Research Strategy to Discover the Environmental Causes of Autism and Neurodevelopmental Disabilities
2012
Works of Raphael Bernier being referenced
Excess of rare, inherited truncating mutations in autism
2015
Individuals with Autism Spectrum Disorder Show Normal Responses to a Fear Potential Startle Paradigm
2005
The fetal origins of mental illness
2019
ERP Evidence of Atypical Face Processing in Young Children with Autism
2006
Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder
2017
Quantitative Assessment of Autism Symptom-related Traits in Probands and Parents: Broader Phenotype Autism Symptom Scale
2006
Sex-Based Analysis of De Novo Variants in Neurodevelopmental Disorders
2019
Autism-Related Language, Personality, and Cognition in People with Absolute Pitch: Results of a Preliminary Study
2003
Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity
2018
Refinement and Discovery of New Hotspots of Copy-Number Variation Associated with Autism Spectrum Disorder
2013
Update on diagnostic classification in autism
2014
Relative Burden of Large CNVs on a Range of Neurodevelopmental Phenotypes
2011
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations
2011
denovo-db: a compendium of humande novovariants
2016
Long-term Risk of Neuropsychiatric Disease After Exposure to Infection In Utero
2019