Phenotypic variability and genetic susceptibility to genomic disorders
about
Understanding the impact of 1q21.1 copy number variantHuman genetics and genomics a decade after the release of the draft sequence of the human genomeMutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growthCNV analysis in a large schizophrenia sample implicates deletions at 16p12.1 and SLC1A1 and duplications at 1p36.33 and CGNL1Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorderToward developmental models of psychiatric disorders in zebrafishCopy number variants in obesity-related syndromes: review and perspectives on novel molecular approachesNonsense-mediated mRNA decay: inter-individual variability and human diseaseCNVs: harbingers of a rare variant revolution in psychiatric geneticsHuman molecular cytogenetics: From cells to nucleotidesUncovering genomic causes of co-morbidity in epilepsy: gene-driven phenotypic characterization of rare microdeletionsConnecting the CNTNAP2 Networks with Neurodevelopmental DisordersDe novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEPComprehensive Analysis of the 16p11.2 Deletion and Null Cntnap2 Mouse Models of Autism Spectrum Disorder.Developmental vulnerability of synapses and circuits associated with neuropsychiatric disorders.Imaging and genetics of language and cognition in pediatric epilepsyTowards identification of individual etiologies by resolving genomic and biological conundrums in patients with autism spectrum disorders.Continuing difficulties in interpreting CNV data: lessons from a genome-wide CNV association study of Australian HNPCC/lynch syndrome patients.Uncovering the etiology of autism spectrum disorders: genomics, bioinformatics, environment, data collection and exploration, and future possibilities.Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypesGenetic studies in Drosophila and humans support a model for the concerted function of CISD2, PPT1 and CLN3 in disease.A genotype-first approach to defining the subtypes of a complex diseaseThe genetic variability and commonality of neurodevelopmental disease.Resolving genomic disorder-associated breakpoints within segmental DNA duplications using massively parallel sequencing.Genomic studies in fragile X premutation carriers.Discovery of variants unmasked by hemizygous deletions.Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.A candidate gene association study further corroborates involvement of contactin genes in autismNeurogenetics: advancing the "next-generation" of brain research.SHC2 gene copy number in multiple system atrophy (MSA)Schizophrenia genetics: emerging themes for a complex disorder.Lessons from model organisms: phenotypic robustness and missing heritability in complex disease.Meeting the challenge of interpreting high-resolution single nucleotide polymorphism array data in prenatal diagnosis: does increased diagnostic power outweigh the dilemma of rare variants?Genetics of age-related macular degeneration: current concepts, future directions.Dystonia, facial dysmorphism, intellectual disability and breast cancer associated with a chromosome 13q34 duplication and overexpression of TFDP1: case reportThe genetics of asthma and allergic disease: a 21st century perspective15q11.2-13.3 chromatin analysis reveals epigenetic regulation of CHRNA7 with deficiencies in Rett and autism brain.Hydroxyurea induces de novo copy number variants in human cells.Rare copy number variants are an important cause of epileptic encephalopathies.Unique and atypical deletions in Prader-Willi syndrome reveal distinct phenotypes.
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Phenotypic variability and genetic susceptibility to genomic disorders
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 31 August 2010
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
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name
Phenotypic variability and genetic susceptibility to genomic disorders
@en
Phenotypic variability and genetic susceptibility to genomic disorders.
@nl
type
label
Phenotypic variability and genetic susceptibility to genomic disorders
@en
Phenotypic variability and genetic susceptibility to genomic disorders.
@nl
prefLabel
Phenotypic variability and genetic susceptibility to genomic disorders
@en
Phenotypic variability and genetic susceptibility to genomic disorders.
@nl
P2860
P356
P1476
Phenotypic variability and genetic susceptibility to genomic disorders
@en
P2093
Evan E Eichler
Santhosh Girirajan
P2860
P304
P356
10.1093/HMG/DDQ366
P577
2010-08-31T00:00:00Z