(Q51181347)

31 March 2018

title

Detection of clinically relevant copy number variants with whole-exome sequencing. (English)

1 reference

31 March 2018

author

Joep de Ligt

1

1 reference

31 March 2018

Lisenka Vissers

4

1 reference

31 March 2018

Philip M. Boone

Philip M Boone

2

0 references

Joris A Veltman

Joris A Veltman

12

0 references

James R. Lupski

11

James R Lupski

1 reference

31 March 2018

Han G. Brunner

10

Han G Brunner

1 reference

31 March 2018

Rolph Pfundt

3

Rolph Pfundt

1 reference

31 March 2018

Jayne Y Hehir-Kwa

13

Jayne Y Hehir-Kwa

1 reference

31 March 2018

Nicole de Leeuw

8

Nicole de Leeuw

1 reference

31 March 2018

author name string

Todd Richmond

5

1 reference

31 March 2018

Joel Geoghegan

6

1 reference

31 March 2018

Kathleen O'Moore

7

1 reference

31 March 2018

Christine Shaw

9

1 reference

31 March 2018

publication date

30 August 2013

1 reference

31 March 2018

published in

Human Mutation

1 reference

31 March 2018

volume

34

1 reference

31 March 2018

issue

10

1 reference

31 March 2018

page(s)

1439-1448

1 reference

31 March 2018

CoNVEX: copy number variation estimation in exome sequencing data using HMM

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22387

Exome sequencing as a tool for Mendelian disease gene discovery

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22387

Detection of clinically relevant exonic copy-number changes by array CGH.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22387

Incidental copy-number variants identified by routine genome testing in a clinical population

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22387

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22387

A copy number variation morbidity map of developmental delay

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22387

Diagnostic exome sequencing in persons with severe intellectual disability

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22387

Comparative studies of copy number variation detection methods for next-generation sequencing technologies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22387

Genetic variation in CACNA1C, a gene associated with bipolar disorder, influences brainstem rather than gray matter volume in healthy individuals

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22387

Discovery and statistical genotyping of copy-number variation from whole-exome sequencing depth

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22387

Disease gene identification strategies for exome sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22387

Human genome sequencing in health and disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22387

Exploring the utility of whole-exome sequencing as a diagnostic tool in a child with atypical episodic muscle weakness

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22387

Genome-wide mapping of copy number variation in humans: comparative analysis of high resolution array platforms

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22387

Genome-wide copy number profiling on high-density bacterial artificial chromosomes, single-nucleotide polymorphisms, and oligonucleotide microarrays: a platform comparison based on statistical power analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22387

cn.MOPS: mixture of Poissons for discovering copy number variations in next-generation sequencing data with a low false discovery rate

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22387

The current excitement about copy-number variation: how it relates to gene duplications and protein families

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22387

Copy number variation detection and genotyping from exome sequence data

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22387

The diploid genome sequence of an individual human

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22387

CONTRA: copy number analysis for targeted resequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22387

Genomic disorders ten years on.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22387

Brain copy number variants and neuropsychiatric traits

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22387

Genomics, intellectual disability, and autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22387

Duplication hotspots, rare genomic disorders, and common disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22387

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22387

Mapping copy number variation by population-scale genome sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22387

A robust algorithm for copy number detection using high-density oligonucleotide single nucleotide polymorphism genotyping arrays

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22387

Exome sequencing identifies the cause of a mendelian disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22387

Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22387

High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22387

Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22387

A robust model for read count data in exome sequencing experiments and implications for copy number variant calling

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22387

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22387

Copy number and SNP arrays in clinical diagnostics

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22387

Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22387

Structural variation in the human genome and its role in disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22387

Statistical challenges associated with detecting copy number variations with next-generation sequencing.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22387

Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22387

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22387

The complete genome of an individual by massively parallel DNA sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22387

Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22387

The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22387

Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22387

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1002/HUMU.22387

1 reference

31 March 2018

1 reference

31 March 2018