(Q34380805)

1 August 2017

An exome sequencing strategy to diagnose lethal autosomal recessive disorders (English)

1 reference

1 August 2017

Richard Caswell

7

0 references

Hana Lango Allen

Hana Lango Allen

8

0 references

Matthew B Johnson

Matthew Johnson

5

0 references

Sian Ellard

Sian Ellard

1

0 references

Peter Turnpenny

3

Peter Turnpenny

1 reference

1 August 2017

2

Emma Kivuva

1 reference

1 August 2017

Karen Stals

4

1 reference

PubMed ID

24961629

1 August 2017

Weijia Xie

6

1 reference

1 August 2017

25 June 2014

1 reference

European Journal of Human Genetics

1 August 2017

1 reference

1 August 2017

23

1 reference

1 August 2017

3

1 reference

1 August 2017

401-404

1 reference

Creative Commons Attribution 3.0 Unported

1 August 2017

start time

25 June 2014

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

exact match

https://scigraph.springernature.com/pub.10.1038/ejhg.2014.120

0 references

cites work

Disease gene identification strategies for exome sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4205099

Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4205099

Exome sequencing identifies WDR35 variants involved in Sensenbrenner 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=4205099

Exome sequencing identifies the cause of a mendelian disorder

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4205099

Genetic diagnosis by whole exome capture and massively parallel DNA 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=4205099

DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4205099

Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly 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=4205099

Mutations in mRNA export mediator GLE1 result in a fetal motoneuron 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=4205099

A mutation in the transmembrane/luminal domain of the ryanodine receptor is associated with abnormal Ca2+ release channel function and severe central core 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=4205099

A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4205099

Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores.

6 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2014.120

Dominant and recessive central core disease associated with RYR1 mutations and fetal akinesia

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2014.120

Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2014.120

21 January 2018

Identifiers

DOI

10.1038/EJHG.2014.120

1 reference

PubMed ID

24961629

Dimensions Publication ID

1 August 2017

0 references

1 reference

1 August 2017

1 reference

PubMed ID

24961629