(Q38124925)

29 August 2017

Pathogenic or not? Assessing the clinical relevance of copy number variants (English)

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29 August 2017

J Y Hehir-Kwa

1

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29 August 2017

R Pfundt

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2

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29 August 2017

J A Veltman

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3

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29 August 2017

N de Leeuw

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4

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29 August 2017

21 August 2013

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29 August 2017

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29 August 2017

84

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29 August 2017

5

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29 August 2017

415-421

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Detection and characterization of copy number variation in autism spectrum disorder

29 August 2017

1 reference

Duplication hotspots, rare genomic disorders, and common disease

21 January 2018

1 reference

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies

21 January 2018

1 reference

Genomic microarrays in mental retardation: from copy number variation to gene, from research to diagnosis

21 January 2018

1 reference

Origins and functional impact of copy number variation in the human genome

21 January 2018

1 reference

A copy number variation morbidity map of developmental delay

21 January 2018

1 reference

Array analysis and karyotyping: workflow consequences based on a retrospective study of 36,325 patients with idiopathic developmental delay in the Netherlands

21 January 2018

1 reference

Array CGH in patients with learning disability (mental retardation) and congenital anomalies: updated systematic review and meta-analysis of 19 studies and 13,926 subjects

21 January 2018

1 reference

Practical guidelines for interpreting copy number gains detected by high-resolution array in routine diagnostics

21 January 2018

1 reference

Genomic microarrays in mental retardation: a practical workflow for diagnostic applications

21 January 2018

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Diagnostic interpretation of array data using public databases and internet sources

21 January 2018

1 reference

Public data archives for genomic structural variation

21 January 2018

1 reference

Accurate distinction of pathogenic from benign CNVs in mental retardation

21 January 2018

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Global variation in copy number in the human genome

21 January 2018

1 reference

Large-scale copy number polymorphism in the human genome

21 January 2018

1 reference

De novo rates and selection of large copy number variation

21 January 2018

1 reference

Challenges for CNV interpretation in clinical molecular karyotyping: lessons learned from a 1001 sample experience.

21 January 2018

1 reference

A new diagnostic workflow for patients with mental retardation and/or multiple congenital abnormalities: test arrays first

21 January 2018

1 reference

Copy number variations and clinical cytogenetic diagnosis of constitutional disorders

21 January 2018

1 reference

Relative burden of large CNVs on a range of neurodevelopmental phenotypes

21 January 2018

1 reference

A novel heterozygous deletion within the 3' region of the PAX6 gene causing isolated aniridia in a large family group.

21 January 2018

1 reference

Global increases in both common and rare copy number load associated with autism

21 January 2018

1 reference

A de novo paradigm for mental retardation.

21 January 2018

1 reference

Rare chromosomal deletions and duplications increase risk of schizophrenia

21 January 2018

1 reference

The role of DNA copy number variation in schizophrenia.

21 January 2018

1 reference

Strong association of de novo copy number mutations with autism

21 January 2018

1 reference

Primate segmental duplications: crucibles of evolution, diversity and disease

21 January 2018

1 reference

Prader-Willi syndrome and Angelman syndrome

21 January 2018

1 reference

Clinical and molecular characterization of a large family with an interstitial 15q11q13 duplication.

21 January 2018

1 reference

Epigenetic and genetic disturbance of the imprinted 11p15 region in Beckwith-Wiedemann and Silver-Russell syndromes.

21 January 2018

1 reference

Interpretation of clinical relevance of X-chromosome copy number variations identified in a large cohort of individuals with cognitive disorders and/or congenital anomalies.

21 January 2018

1 reference

Sporadic male patients with intellectual disability: contribution of X-chromosome copy number variants

21 January 2018

1 reference

X-inactivation, imprinting, and long noncoding RNAs in health and disease

21 January 2018

1 reference

Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles.

21 January 2018

1 reference

A homozygous deletion of a normal variation locus in a patient with hearing loss from non-consanguineous parents

21 January 2018

1 reference

Pseudodominant inheritance of nephronophthisis caused by a homozygous NPHP1 deletion

21 January 2018

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Common structural features characterize interstitial intrachromosomal Xp and 18q triplications.

21 January 2018

1 reference

Deletion 16p13.11 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption.

21 January 2018

1 reference

Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome

21 January 2018

1 reference

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

21 January 2018

1 reference

Phenotypic heterogeneity of genomic disorders and rare copy-number variants

21 January 2018

1 reference

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

21 January 2018

1 reference

Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications

21 January 2018

1 reference

Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis

21 January 2018

1 reference

Complex and segmental uniparental disomy updated

21 January 2018

1 reference

A fascination with chromosome rescue in uniparental disomy: Mendelian recessive outlaws and imprinting copyrights infringements

21 January 2018

1 reference

263.4 kb deletion within the TCF4 gene consistent with Pitt-Hopkins syndrome, inherited from a mosaic parent with normal phenotype

21 January 2018

1 reference

Non-heritable genetics of human disease: spotlight on post-zygotic genetic variation acquired during lifetime

21 January 2018

1 reference

A genomic view of mosaicism and human disease

21 January 2018

1 reference

Revertant somatic mosaicism by mitotic recombination in dyskeratosis congenita.

21 January 2018

1 reference

Two families with sibling recurrence of the 17q21.31 microdeletion syndrome due to low-grade mosaicism

21 January 2018

1 reference

Exploring the potential role of disease-causing mutation in a gene desert: duplication of noncoding elements 5' of GRIA3 is associated with GRIA3 silencing and X-linked intellectual disability

21 January 2018

1 reference

Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis

21 January 2018

1 reference

CNVs of noncoding cis-regulatory elements in human disease

21 January 2018

1 reference

Rate of de novo mutations and the importance of father's age to disease risk

21 January 2018

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De novo mutations in human genetic disease

21 January 2018

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The causality of de novo copy number variants is overestimated

21 January 2018

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Hereditary spastic paraplegia-associated mutations in the NIPA1 gene and its Caenorhabditis elegans homolog trigger neural degeneration in vitro and in vivo through a gain-of-function mechanism

21 January 2018

1 reference

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

21 January 2018

1 reference

Gene duplication: a drive for phenotypic diversity and cause of human disease

21 January 2018

1 reference

Inverted low-copy repeats and genome instability--a genome-wide analysis

21 January 2018

1 reference

NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits

21 January 2018

1 reference

Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies

21 January 2018

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Recurrence, submicroscopic complexity, and potential clinical relevance of copy gains detected by array CGH that are shown to be unbalanced insertions by FISH.

21 January 2018

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Characterising and predicting haploinsufficiency in the human genome.

21 January 2018

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Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

21 January 2018

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21 January 2018

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Pitfalls in the use of DGV for CNV interpretation

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1111/CGE.12242

1 reference

29 August 2017

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