Published in Nature on December 24, 2014
Analysis of protein-coding genetic variation in 60,706 humans. Nature (2016) 11.83
Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci. Neuron (2015) 1.91
The Ensembl Variant Effect Predictor. Genome Biol (2016) 1.80
Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders. Nat Neurosci (2016) 1.78
Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families. Nat Genet (2015) 1.67
Global diversity, population stratification, and selection of human copy-number variation. Science (2015) 1.48
Visualizing the origins of selfish de novo mutations in individual seminiferous tubules of human testes. Proc Natl Acad Sci U S A (2016) 1.44
Rare and common epilepsies converge on a shared gene regulatory network providing opportunities for novel antiepileptic drug discovery. Genome Biol (2016) 1.43
Clinical application of whole-exome sequencing across clinical indications. Genet Med (2015) 1.41
High-throughput gene targeting and phenotyping in zebrafish using CRISPR/Cas9. Genome Res (2015) 1.41
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De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies. Science (2015) 1.36
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Recurrent and Non-Recurrent Mutations of SCN8A in Epileptic Encephalopathy. Front Neurol (2015) 1.17
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The impact of rare variation on gene expression across tissues. Nature (2017) 1.09
Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability. Nat Neurosci (2016) 1.07
Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling. Am J Hum Genet (2015) 1.01
Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability. Hum Mutat (2015) 1.00
Structural variation mutagenesis of the human genome: Impact on disease and evolution. Environ Mol Mutagen (2015) 1.00
Facilitating collaboration in rare genetic disorders through effective matchmaking in DECIPHER. Hum Mutat (2015) 0.99
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A Cross-Disorder Method to Identify Novel Candidate Genes for Developmental Brain Disorders. JAMA Psychiatry (2016) 0.97
De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment. Am J Hum Genet (2015) 0.92
Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability. Genet Med (2016) 0.91
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. Am J Hum Genet (2016) 0.91
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Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. Genet Med (2016) 0.91
POGZ truncating alleles cause syndromic intellectual disability. Genome Med (2016) 0.90
An expanded sequence context model broadly explains variability in polymorphism levels across the human genome. Nat Genet (2016) 0.90
Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects. Nat Neurosci (2015) 0.89
Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing. Nat Genet (2016) 0.88
Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples. Nat Genet (2017) 0.87
From genomic medicine to precision medicine: highlights of 2015. Genome Med (2016) 0.86
Novel bioinformatic developments for exome sequencing. Hum Genet (2016) 0.86
Independent Neuronal Origin of Seizures and Behavioral Comorbidities in an Animal Model of a Severe Childhood Genetic Epileptic Encephalopathy. PLoS Genet (2015) 0.86
Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern. Hum Mutat (2016) 0.86
Inherited platelet disorders: toward DNA-based diagnosis. Blood (2016) 0.85
A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect. Am J Hum Genet (2016) 0.85
A Burden of Rare Variants Associated with Extremes of Gene Expression in Human Peripheral Blood. Am J Hum Genet (2016) 0.84
Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy. Am J Hum Genet (2016) 0.84
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. Nat Genet (2017) 0.84
Smarca4 ATPase mutations disrupt direct eviction of PRC1 from chromatin. Nat Genet (2016) 0.84
De novo pathogenic variants in CHAMP1 are associated with global developmental delay, intellectual disability, and dysmorphic facial features. Cold Spring Harb Mol Case Stud (2016) 0.84
Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders. Am J Hum Genet (2016) 0.83
The implications of the shared genetics of psychiatric disorders. Nat Med (2016) 0.83
Cellular and Molecular Mechanisms of Palatogenesis. Curr Top Dev Biol (2015) 0.83
De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome. Am J Hum Genet (2016) 0.82
Mosaic structural variation in children with developmental disorders. Hum Mol Genet (2015) 0.81
De novo POGZ mutations are associated with neurodevelopmental disorders and microcephaly. Cold Spring Harb Mol Case Stud (2015) 0.81
Clinical application of next-generation sequencing for Mendelian diseases. Hum Genomics (2015) 0.81
The Many Roles of BAF (mSWI/SNF) and PBAF Complexes in Cancer. Cold Spring Harb Perspect Med (2016) 0.81
Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome. J Med Genet (2015) 0.80
Next-Generation Sequencing in Intellectual Disability. J Pediatr Genet (2015) 0.80
Expression quantitative trait locus analysis for translational medicine. Genome Med (2015) 0.80
The continuum of causality in human genetic disorders. Genome Biol (2016) 0.80
OpEx - a validated, automated pipeline optimised for clinical exome sequence analysis. Sci Rep (2016) 0.80
De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms. Am J Hum Genet (2016) 0.79
Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis. Genes Dev (2016) 0.79
Molecular subtyping and improved treatment of neurodevelopmental disease. Genome Med (2016) 0.79
Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth. Hum Mol Genet (2015) 0.79
BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription. Am J Hum Genet (2016) 0.79
A novel de novo POGZ mutation in a patient with intellectual disability. J Hum Genet (2016) 0.79
B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability. J Clin Invest (2015) 0.79
Human Y chromosome copy number variation in the next generation sequencing era and beyond. Hum Genet (2017) 0.79
Microarray Analysis of Copy Number Variants on the Human Y Chromosome Reveals Novel and Frequent Duplications Overrepresented in Specific Haplogroups. PLoS One (2015) 0.79
De novo genic mutations among a Chinese autism spectrum disorder cohort. Nat Commun (2016) 0.78
Novel de novo EEF1A2 missense mutations causing epilepsy and intellectual disability. Mol Genet Genomic Med (2016) 0.78
Developing educational iPhone, Android and Windows smartphone cross-platform apps to facilitate understanding of clinical genomics terminology. Appl Transl Genom (2015) 0.78
Genetic research in autism spectrum disorders. Curr Opin Pediatr (2015) 0.78
Perturbed proteostasis in autism spectrum disorders. J Neurochem (2016) 0.78
Current Perspectives in Autism Spectrum Disorder: From Genes to Therapy. J Neurosci (2016) 0.77
Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants. Hum Genet (2017) 0.77
De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism. Neurogenetics (2015) 0.77
HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome. J Med Genet (2015) 0.77
Standardized phenotyping enhances Mendelian disease gene identification. Nat Genet (2015) 0.77
Incorporating Functional Information in Tests of Excess De Novo Mutational Load. Am J Hum Genet (2015) 0.77
Copy number variation in the human Y chromosome in the UK population. Hum Genet (2015) 0.77
Sequence capture by hybridization to explore modern and ancient genomic diversity in model and nonmodel organisms. Nucleic Acids Res (2016) 0.77
SNP array screening of cryptic genomic imbalances in 450 Japanese subjects with intellectual disability and multiple congenital anomalies previously negative for large rearrangements. J Hum Genet (2016) 0.77
Polygenic Risk of Schizophrenia and Cognition in a Population-Based Survey of Older Adults. Schizophr Bull (2016) 0.77
The contribution of rare variants to risk of schizophrenia in individuals with and without intellectual disability. Nat Genet (2017) 0.76
The Eight and a Half Year Journey of Undiagnosed AD: Gene Sequencing and Funding of Advanced Genetic Testing Has Led to Hope and New Beginnings. Front Endocrinol (Lausanne) (2017) 0.76
Arid1b haploinsufficient mice reveal neuropsychiatric phenotypes and reversible causes of growth impairment. Elife (2017) 0.76
Prioritizing the development of mouse models for childhood brain disorders. Neuropharmacology (2015) 0.76
Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2. Genet Med (2016) 0.76
Discovery of rare variants for complex phenotypes. Hum Genet (2016) 0.76
Integrating population variation and protein structural analysis to improve clinical interpretation of missense variation: application to the WD40 domain. Hum Mol Genet (2016) 0.76
Human Knockout Carriers: Dead, Diseased, Healthy, or Improved? Trends Mol Med (2016) 0.76
BOD1 Is Required for Cognitive Function in Humans and Drosophila. PLoS Genet (2016) 0.76
Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders. Hum Mol Genet (2017) 0.76
De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila. Eur J Hum Genet (2016) 0.75
Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population. Orphanet J Rare Dis (2016) 0.75
De novo mutations in PURA are associated with hypotonia and developmental delay. Cold Spring Harb Mol Case Stud (2015) 0.75
Advances in understanding - genetic basis of intellectual disability. F1000Res (2016) 0.75
A New, Atypical Case of Cobalamin F Disorder Diagnosed by Whole Exome Sequencing. Mol Syndromol (2015) 0.75
Mutations in HECW2 are associated with intellectual disability and epilepsy. J Med Genet (2016) 0.75
Long-term follow-up of a patient with 5q31.3 microdeletion syndrome and the smallest de novo 5q31.2q31.3 deletion involving PURA. Mol Cytogenet (2015) 0.75
Ultra-rare Disease and Genomics-Driven Precision Medicine. Genomics Inform (2016) 0.75
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature (2012) 14.76
Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature (2012) 13.71
De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature (2012) 13.61
Diagnostic exome sequencing in persons with severe intellectual disability. N Engl J Med (2012) 10.80
De novo gene disruptions in children on the autistic spectrum. Neuron (2012) 9.69
A copy number variation morbidity map of developmental delay. Nat Genet (2011) 9.58
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet (2012) 8.42
De novo mutations in epileptic encephalopathies. Nature (2013) 7.42
De novo mutations in schizophrenia implicate synaptic networks. Nature (2014) 6.59
Rare de novo and transmitted copy-number variation in autistic spectrum disorders. Neuron (2011) 5.78
De novo mutations in histone-modifying genes in congenital heart disease. Nature (2013) 5.15
Characterising and predicting haploinsufficiency in the human genome. PLoS Genet (2010) 4.85
The Kraepelinian dichotomy - going, going... but still not gone. Br J Psychiatry (2010) 4.47
A framework for the interpretation of de novo mutation in human disease. Nat Genet (2014) 4.00
A systematic genome-wide analysis of zebrafish protein-coding gene function. Nature (2013) 3.52
Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data. Lancet (2014) 3.39
Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders. Neuron (2013) 2.45
A higher mutational burden in females supports a "female protective model" in neurodevelopmental disorders. Am J Hum Genet (2014) 2.18
Paternal age effect mutations and selfish spermatogonial selection: causes and consequences for human disease. Am J Hum Genet (2012) 1.78
Cohort Profile: Generation Scotland: Scottish Family Health Study (GS:SFHS). The study, its participants and their potential for genetic research on health and illness. Int J Epidemiol (2012) 1.67
Genome-wide reverse genetics framework to identify novel functions of the vertebrate secretome. PLoS One (2006) 1.60
A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP. Nat Genet (2014) 1.55
A missense mutation in a highly conserved alternate exon of dynamin-1 causes epilepsy in fitful mice. PLoS Genet (2010) 1.48
Interorganelle trafficking of ceramide is regulated by phosphorylation-dependent cooperativity between the PH and START domains of CERT. J Biol Chem (2007) 1.39
A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disorders. Genome Res (2013) 1.06
Mouse model for probing tumor suppressor activity of protein phosphatase 2A in diverse signaling pathways. Cell Cycle (2012) 0.96
No expectation to share incidental findings in genomic research. Lancet (2014) 1.20
Prevalence and architecture of de novo mutations in developmental disorders. Nature (2017) 1.05
Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing. Nat Genet (2016) 0.88
Mosaic structural variation in children with developmental disorders. Hum Mol Genet (2015) 0.81
Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis. Genes Dev (2016) 0.79
Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia. Nat Genet (2016) 0.77
De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome. Am J Hum Genet (2017) 0.75
Germline mutations affecting the histone H4 core cause a developmental syndrome by altering DNA damage response and cell cycle control. Nat Genet (2017) 0.75
Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. Am J Hum Genet (2017) 0.75
Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome. Am J Hum Genet (2022) 0.75
Detection of structural mosaicism from targeted and whole-genome sequencing data. Genome Res (2017) 0.75
Corrigendum: Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia. Nat Genet (2017) 0.75
De Novo Mutations in YWHAG Cause Early-Onset Epilepsy. Am J Hum Genet (2017) 0.75
RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes. Am J Hum Genet (2017) 0.75