Clinical whole-exome sequencing for the diagnosis of mendelian disorders (Q34413680)

2 August 2017

title

Clinical whole-exome sequencing for the diagnosis of mendelian disorders (English)

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2 August 2017

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James R Lupski

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2 August 2017

Richard A Gibbs

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2 August 2017

Donna M Muzny

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2 August 2017

Christine M Eng

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2 August 2017

Yaping Yang

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2 August 2017

Zhiyv Niu

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2 August 2017

Joke Beuten

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2 August 2017

Mir Reza Bekheirnia

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2 August 2017

Sharon E Plon

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2 August 2017

Magalie S Leduc

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2 August 2017

Jeffrey G Reid

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2 August 2017

Matthew N Bainbridge

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2 August 2017

Alecia Willis

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2 August 2017

Patricia A Ward

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2 August 2017

Alicia Braxton

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2 August 2017

Fan Xia

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2 August 2017

Matthew Hardison

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2 August 2017

Richard Person

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2 August 2017

Amelia Kirby

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2 August 2017

Peter Pham

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2 August 2017

Jennifer Scull

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2 August 2017

Min Wang

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2 August 2017

Yan Ding

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2 August 2017

Arthur L Beaudet

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2 August 2017

language of work or name

English

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publication date

2 October 2013

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The New England Journal of Medicine

2 August 2017

published in

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2 August 2017

volume

369

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2 August 2017

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2 August 2017

page(s)

1502-1511

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Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy

2 August 2017

cites work

1 reference

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6 July 2018

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De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome

6 July 2018

1 reference

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

6 July 2018

1 reference

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HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle

6 July 2018

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Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome

6 July 2018

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Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome

6 July 2018

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Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability

6 July 2018

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Taxonomizing, sizing, and overcoming the incidentalome

6 July 2018

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6 July 2018

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The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases

6 July 2018

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Targeted enrichment beyond the consensus coding DNA sequence exome reveals exons with higher variant densities

6 July 2018

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Whole-genome sequencing for optimized patient management

6 July 2018

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dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions

6 July 2018

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A map of human genome variation from population-scale sequencing

6 July 2018

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

6 July 2018

1 reference

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

6 July 2018

1 reference

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Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4211433

Structural variation in the human genome and its role in disease

6 July 2018

1 reference

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A SNP discovery method to assess variant allele probability from next-generation resequencing data

6 July 2018

1 reference

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Targeted capture and massively parallel sequencing of 12 human exomes

6 July 2018

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The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation

6 July 2018

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Fast and accurate short read alignment with Burrows-Wheeler transform

6 July 2018

1 reference

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A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

6 July 2018

1 reference

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Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation

6 July 2018

1 reference

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Carrier screening in individuals of Ashkenazi Jewish descent

6 July 2018

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6 July 2018

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Genetic disorders in children and young adults: a population study

6 July 2018

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Diagnostic exome sequencing in persons with severe intellectual disability

6 July 2018

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A de novo paradigm for mental retardation.

27 October 2018

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27 October 2018

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Practice parameter: evaluation of the child with global developmental delay: report of the Quality Standards Subcommittee of the American Academy of Neurology and The Practice Committee of the Child Neurology Society

27 October 2018

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27 October 2018

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PubMed

https://pubmed.ncbi.nlm.nih.gov/24088041

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Development and validation of a CGH microarray for clinical cytogenetic diagnosis

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24088041

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1056/NEJMOA1306555

1 reference

2 August 2017

1 reference

2 August 2017

1 reference