Characterising and predicting haploinsufficiency in the human genome.
about
OTX2 duplication is implicated in hemifacial microsomiaDECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation5p deletions: Current knowledge and future directions.DECIPHER: web-based, community resource for clinical interpretation of rare variants in developmental disordersIdentifying candidate genes for 2p15p16.1 microdeletion syndrome using clinical, genomic, and functional analysis.Mutations in NOTCH1 cause Adams-Oliver syndromeThe clustering of functionally related genes contributes to CNV-mediated diseaseSmall 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual DisabilityA novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disordersHCV infection-associated hepatocellular carcinoma in humanized miceFacilitating collaboration in rare genetic disorders through effective matchmaking in DECIPHERClinical interpretation of CNVs with cross-species phenotype dataAnnotate-it: a Swiss-knife approach to annotation, analysis and interpretation of single nucleotide variation in human diseaseDe Novo Mutations in EBF3 Cause a Neurodevelopmental SyndromeA systematic survey of loss-of-function variants in human protein-coding genesFusion of large-scale genomic knowledge and frequency data computationally prioritizes variants in epilepsyAnalysis of mammalian gene function through broad-based phenotypic screens across a consortium of mouse clinicsNovel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A.Genome-wide haploinsufficiency screen reveals a novel role for γ-TuSC in spindle organization and genome stability.Prioritizing genes for X-linked diseases using population exome data.Diagnostic interpretation of array data using public databases and internet sources.cnvScan: a CNV screening and annotation tool to improve the clinical utility of computational CNV prediction from exome sequencing dataFunctional analysis of alleged NOGGIN mutation G92E disproves its pathogenic relevance.Mutations in Human Accelerated Regions Disrupt Cognition and Social BehaviorPrenatal Diagnosis of a 2.5 Mb De Novo 17q24.1q24.2 Deletion Encompassing KPNA2 and PSMD12 Genes in a Fetus with Craniofacial Dysmorphism, Equinovarus Feet, and SyndactylyExploring the effects of gene dosage on mandible shape in mice as a model for studying the genetic basis of natural variationSemantic prioritization of novel causative genomic variantsDe novo mutations in schizophrenia implicate chromatin remodeling and support a genetic overlap with autism and intellectual disabilityWhole-exome sequencing identifies a novel de novo mutation in DYNC1H1 in epileptic encephalopathiesMendel,MD: A user-friendly open-source web tool for analyzing WES and WGS in the diagnosis of patients with Mendelian disorders.Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.Prioritization of neurodevelopmental disease genes by discovery of new mutations.Primary immunodeficiency diagnosed at autopsy: a case reportdbNSFP v2.0: a database of human non-synonymous SNVs and their functional predictions and annotations.Mammalian Y chromosomes retain widely expressed dosage-sensitive regulatorsAre copy number variants associated with adolescent idiopathic scoliosis?The genetic control of growth rate: a systems biology study in yeast.Deletions of chromosomal regulatory boundaries are associated with congenital disease.Phenotypic impact of genomic structural variation: insights from and for human disease.Genotype to phenotype relationships in autism spectrum disorders
P2860
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P2860
Characterising and predicting haploinsufficiency in the human genome.
description
2010 nî lūn-bûn
@nan
2010 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Characterising and predicting haploinsufficiency in the human genome.
@ast
Characterising and predicting haploinsufficiency in the human genome.
@en
type
label
Characterising and predicting haploinsufficiency in the human genome.
@ast
Characterising and predicting haploinsufficiency in the human genome.
@en
prefLabel
Characterising and predicting haploinsufficiency in the human genome.
@ast
Characterising and predicting haploinsufficiency in the human genome.
@en
P2093
P2860
P1433
P1476
Characterising and predicting haploinsufficiency in the human genome
@en
P2093
Matthew E Hurles
P2860
P304
P356
10.1371/JOURNAL.PGEN.1001154
P577
2010-10-14T00:00:00Z