Towards an evidence-based process for the clinical interpretation of copy number variation
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Mechanisms of Origin, Phenotypic Effects and Diagnostic Implications of Complex Chromosome RearrangementsHuman molecular cytogenetics: From cells to nucleotidesTowards a Universal Clinical Genomics Database: the 2012 International Standards for Cytogenomic Arrays Consortium MeetingPerformance of chromosomal microarray for patients with intellectual disabilities/developmental delay, autism, and multiple congenital anomalies in a Chinese cohortDeciphering the pathogenic consequences of chromosomal aberrations in human genetic disease.Copy number variations in a population-based study of Charcot-Marie-Tooth diseasePhenotypic information in genomic variant databases enhances clinical care and research: the International Standards for Cytogenomic Arrays Consortium experience.Using ClinVar as a Resource to Support Variant InterpretationNew insights in the interpretation of array-CGH: autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants.The laboratory-clinician team: a professional call to action to improve communication and collaboration for optimal patient care in chromosomal microarray testingMicroarray testing in clinical diagnosis: an analysis of 5,300 New Zealand patients.CNV analysis in Chinese children of mental retardation highlights a sex differentiation in parental contribution to de novo and inherited mutational burdensA dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgroundsPrenatal SNP array testing in 1000 fetuses with ultrasound anomalies: causative, unexpected and susceptibility CNVs.Large copy number variations in combination with point mutations in the TYMP and SCO2 genes found in two patients with mitochondrial disorders.How to use… microarray comparative genomic hybridisation to investigate developmental disorders.Microarray Technology for the Diagnosis of Fetal Chromosomal Aberrations: Which Platform Should We Use?Variable phenotype expression in a family segregating microdeletions of the NRXN1 and MBD5 autism spectrum disorder susceptibility genes.Dosage sensitivity is a major determinant of human copy number variant pathogenicity.Types of array findings detectable in cytogenetic diagnosis: a proposal for a generic classificationCNVinspector: a web-based tool for the interactive evaluation of copy number variations in single patients and in cohorts.Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly.Reference-free prediction of rearrangement breakpoint reads.Clinical relevance of small copy-number variants in chromosomal microarray clinical testing.The clinical utility of molecular karyotyping using high-resolution array-comparative genomic hybridization.ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: revision 2013.Partial duplication of the PARK2 gene in a child with developmental delay and her normal mother: a second report.Chromosomal microarray analysis in ocular developmental anomalies.Identification of an NPHP1 deletion causing adult form of nephronophthisis.Copy number variants implicate cardiac function and development pathways in earthquake-induced stress cardiomyopathy.Genetics in mainstream medicine: Finally within grasp to influence healthcare globallyDetecting Copy Number Variation via Next Generation Technology
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Towards an evidence-based process for the clinical interpretation of copy number variation
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 13 December 2011
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Towards an evidence-based proc ...... ation of copy number variation
@en
Towards an evidence-based proc ...... tion of copy number variation.
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type
label
Towards an evidence-based proc ...... ation of copy number variation
@en
Towards an evidence-based proc ...... tion of copy number variation.
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prefLabel
Towards an evidence-based proc ...... ation of copy number variation
@en
Towards an evidence-based proc ...... tion of copy number variation.
@nl
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P2860
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Towards an evidence-based proc ...... ation of copy number variation
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P2093
C L Martin
D H Ledbetter
D M Church
E B Kaminsky
E C Thorland
E S Williams
H M Kearney
P2860
P304
P356
10.1111/J.1399-0004.2011.01818.X
P577
2011-12-13T00:00:00Z