(Q34413680)

2 August 2017

title

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

1 reference

2 August 2017

0 references

21

James R Lupski

1 reference

2 August 2017

23

Richard A Gibbs

1 reference

2 August 2017

2

Donna M Muzny

1 reference

2 August 2017

24

Christine M Eng

1 reference

2 August 2017

1

Yaping Yang

1 reference

2 August 2017

10

Zhiyv Niu

1 reference

2 August 2017

8

Joke Beuten

1 reference

2 August 2017

13

Mir Reza Bekheirnia

1 reference

2 August 2017

20

Sharon E Plon

1 reference

2 August 2017

14

Magalie S Leduc

1 reference

2 August 2017

Jeffrey G Reid

3

1 reference

2 August 2017

Matthew N Bainbridge

4

1 reference

2 August 2017

Alecia Willis

5

1 reference

2 August 2017

Patricia A Ward

6

1 reference

2 August 2017

Alicia Braxton

7

1 reference

2 August 2017

Fan Xia

9

1 reference

2 August 2017

Matthew Hardison

11

1 reference

2 August 2017

Richard Person

12

1 reference

2 August 2017

Amelia Kirby

15

1 reference

2 August 2017

Peter Pham

16

1 reference

2 August 2017

Jennifer Scull

17

1 reference

2 August 2017

Min Wang

18

1 reference

2 August 2017

Yan Ding

19

1 reference

2 August 2017

Arthur L Beaudet

22

1 reference

2 August 2017

language of work or name

English

0 references

publication date

2 October 2013

1 reference

The New England Journal of Medicine

2 August 2017

published in

1 reference

2 August 2017

volume

369

1 reference

2 August 2017

issue

16

1 reference

2 August 2017

page(s)

1502-1511

1 reference

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

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

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

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

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

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

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

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

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

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

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

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

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

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

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

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

Taxonomizing, sizing, and overcoming the incidentalome

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

Human genome sequencing in health and disease

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

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

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

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

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

Whole-genome sequencing for optimized patient management

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

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

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

A map of human genome variation from population-scale sequencing

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

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

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

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

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

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

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

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

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

Targeted capture and massively parallel sequencing of 12 human exomes

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

The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation

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

Fast and accurate short read alignment with Burrows-Wheeler transform

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

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

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

Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation

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

Carrier screening in individuals of Ashkenazi Jewish descent

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

American College of Medical Genetics guideline on the cytogenetic evaluation of the individual with developmental delay or mental retardation

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

Genetic disorders in children and young adults: a population study

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

Diagnostic exome sequencing in persons with severe intellectual disability

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

A de novo paradigm for mental retardation.

27 October 2018

1 reference

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

The Human Gene Mutation Database: 2008 update

27 October 2018

1 reference

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

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

1 reference

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

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

27 October 2018

1 reference

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