Published in Nat Neurosci on August 01, 2016
Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains. Am J Hum Genet (2016) 1.54
Human GRIN2B variants in neurodevelopmental disorders. J Pharmacol Sci (2016) 0.95
New insights into the generation and role of de novo mutations in health and disease. Genome Biol (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
Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism. Am J Hum Genet (2016) 0.84
Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism. Hum Genet (2016) 0.80
Genetic Approaches to Understanding Psychiatric Disease. Neurotherapeutics (2017) 0.80
De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype. Am J Hum Genet (2016) 0.79
Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features. Hum Genet (2017) 0.76
Truncating de novo mutations in the Krüppel-type zinc-finger gene ZNF148 in patients with corpus callosum defects, developmental delay, short stature, and dysmorphisms. Genome Med (2016) 0.75
De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome. Am J Hum Genet (2016) 0.75
Yin-yang actions of histone methylation regulatory complexes in the brain. Epigenomics (2016) 0.75
De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome. Am J Hum Genet (2017) 0.75
Synaptic GAP and GEF Complexes Cluster Proteins Essential for GTP Signaling. Sci Rep (2017) 0.75
DOMINO: Using Machine Learning to Predict Genes Associated with Dominant Disorders. Am J Hum Genet (2017) 0.75
YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction. Am J Hum Genet (2017) 0.75
Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy. Am J Hum Genet (2017) 0.75
Ultra-sensitive Sequencing Identifies High Prevalence of Clonal Hematopoiesis-Associated Mutations throughout Adult Life. Am J Hum Genet (2017) 0.75
Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains. Nat Neurosci (2017) 0.75
RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes. Am J Hum Genet (2017) 0.75
Differential requirements for Tousled-like kinases 1 and 2 in mammalian development. Cell Death Differ (2017) 0.75
A systematic survey of loss-of-function variants in human protein-coding genes. Science (2012) 12.25
Rate of de novo mutations and the importance of father's age to disease risk. Nature (2012) 11.92
Diagnostic exome sequencing in persons with severe intellectual disability. N Engl J Med (2012) 10.80
The contribution of de novo coding mutations to autism spectrum disorder. Nature (2014) 5.94
Genic intolerance to functional variation and the interpretation of personal genomes. PLoS Genet (2013) 5.58
A framework for the interpretation of de novo mutation in human disease. Nat Genet (2014) 4.00
Genome sequencing identifies major causes of severe intellectual disability. Nature (2014) 3.68
Large-scale discovery of novel genetic causes of developmental disorders. Nature (2014) 3.33
Spatial and temporal mapping of de novo mutations in schizophrenia to a fetal prefrontal cortical network. Cell (2013) 3.26
A de novo convergence of autism genetics and molecular neuroscience. Trends Neurosci (2013) 2.24
A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases. Hum Mutat (2013) 2.07
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Recurrent de novo mutations implicate novel genes underlying simplex autism risk. Nat Commun (2014) 1.59
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Multiple hypothesis testing in genomics. Stat Med (2014) 1.05
Mutations in SETD2 cause a novel overgrowth condition. J Med Genet (2014) 0.95
Brief Report: SETD2 Mutation in a Child with Autism, Intellectual Disabilities and Epilepsy. J Autism Dev Disord (2015) 0.87
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly. Nat Genet (2017) 1.39
Parent-of-origin-specific signatures of de novo mutations. Nat Genet (2016) 0.97
Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature. Eur J Hum Genet (2016) 0.84
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies. Nat Genet (2016) 0.84
ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation. Nat Commun (2016) 0.82
Novel genetic causes for cerebral visual impairment. Eur J Hum Genet (2015) 0.81
Syndromic X-linked intellectual disability segregating with a missense variant in RLIM. Eur J Hum Genet (2015) 0.79
Standardized phenotyping enhances Mendelian disease gene identification. Nat Genet (2015) 0.77
Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity. Nat Genet (2016) 0.76
LRP5 variants may contribute to ADPKD. Eur J Hum Genet (2015) 0.75
Phenotypes and genotypes in individuals with SMC1A variants. Am J Med Genet A (2017) 0.75
Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing. Eur J Hum Genet (2017) 0.75
Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability. Nat Commun (2017) 0.75
A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency. Eur J Hum Genet (2017) 0.75
Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability. Mol Psychiatry (2016) 0.75
Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder. PLoS Genet (2017) 0.75
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders. Genet Med (2016) 0.75
Aggregation of population-based genetic variation over protein domain homologues and its potential use in genetic diagnostics. Hum Mutat (2017) 0.75