(Q36998076)

English

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

scientific article published on 27 June 2013

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scholarly article

1 reference

Europe PubMed Central

17 August 2017

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

1 reference

Europe PubMed Central

17 August 2017

incidental finding

0 references

Claudia Gonzaga-Jauregui

2

1 reference

Europe PubMed Central

17 August 2017

James R. Lupski

1

object named as

James R Lupski

1 reference

Europe PubMed Central

17 August 2017

Christie L. Kovar

7

object named as

Christie L Kovar

1 reference

Europe PubMed Central

17 August 2017

Richard A Gibbs

13

object named as

Richard A Gibbs

1 reference

Europe PubMed Central

17 August 2017

12

object named as

Donna M Muzny

1 reference

Europe PubMed Central

17 August 2017

Christine M. Eng

11

object named as

Christine Eng

1 reference

Europe PubMed Central

17 August 2017

3

object named as

Yaping Yang

1 reference

Europe PubMed Central

17 August 2017

Shalini Jhangiani

5

object named as

Shalini Jhangiani

1 reference

Europe PubMed Central

17 August 2017

author name string

Matthew N Bainbridge

4

1 reference

Europe PubMed Central

17 August 2017

Christian J Buhay

6

1 reference

Europe PubMed Central

17 August 2017

Min Wang

8

1 reference

Europe PubMed Central

17 August 2017

Alicia C Hawes

9

1 reference

Europe PubMed Central

17 August 2017

Jeffrey G Reid

10

1 reference

Europe PubMed Central

17 August 2017

language of work or name

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publication date

27 June 2013

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Europe PubMed Central

17 August 2017

Genome Medicine

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Europe PubMed Central

17 August 2017

5

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Europe PubMed Central

17 August 2017

6

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Europe PubMed Central

17 August 2017

57

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Europe PubMed Central

17 August 2017

copyright license

Creative Commons Attribution 2.0 Generic

1 June 2013

1 reference

April 2022 Public Data File from Crossref

copyright status

0 references

https://scigraph.springernature.com/pub.10.1186/gm461

0 references

Human genome sequencing in health and disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706849

29 September 2017

An integrative variant analysis suite for whole exome next-generation sequencing data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706849

29 September 2017

Clan genomics and the complex architecture of human disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706849

29 September 2017

Performance comparison of exome DNA sequencing technologies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706849

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706849

29 September 2017

Whole-genome sequencing for optimized patient management

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706849

29 September 2017

The variant call format and VCFtools

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706849

29 September 2017

Comparison of three targeted enrichment strategies on the SOLiD sequencing platform

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706849

29 September 2017

A framework for variation discovery and genotyping using next-generation DNA sequencing data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706849

29 September 2017

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706849

29 September 2017

Whole exome capture in solution with 3 Gbp of data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706849

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706849

29 September 2017

Sequence and structural variation in a human genome uncovered by short-read, massively parallel ligation sequencing using two-base encoding

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706849

29 September 2017

The Sequence Alignment/Map format and SAMtools

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706849

29 September 2017

Fast and accurate short read alignment with Burrows-Wheeler transform

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706849

29 September 2017

The vertebrate genome annotation (Vega) database

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706849

29 September 2017

miRBase: tools for microRNA genomics

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706849

29 September 2017

A new mutation of IGHMBP2 gene in spinal muscular atrophy with respiratory distress type 1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706849

29 September 2017

Characterization of a partial pseudogene homologous to the adrenoleukodystrophy gene and application to mutation detection

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706849

29 September 2017

An abundance of rare functional variants in 202 drug target genes sequenced in 14,002 people

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706849

4 September 2018

T118M PMP22 mutation causes partial loss of function and HNPP-like neuropathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706849

4 September 2018

Null missense ABCR (ABCA4) mutations in a family with stargardt disease and retinitis pigmentosa.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706849

4 September 2018

Eight novel ABCD1 gene mutations and three polymorphisms in patients with X-linked adrenoleukodystrophy: The first polymorphism causing an amino acid exchange.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706849

4 September 2018

Individual genomes on the horizon

1 reference

https://pubmed.ncbi.nlm.nih.gov/23806086

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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Europe PubMed Central

17 August 2017

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release_wq3ohqduhndbtjbyg3gamvuht4

1 reference

https://api.fatcat.wiki/v0/release/wq3ohqduhndbtjbyg3gamvuht4

24 November 2022

based on heuristic

mapped directly with Wikidata item

1 reference

Europe PubMed Central

17 August 2017

1 reference

Europe PubMed Central

17 August 2017

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