Exome analysis of two limb-girdle muscular dystrophy families: mutations identified and challenges encountered (Q34479143)

2 August 2017

Exome analysis of two limb-girdle muscular dystrophy families: mutations identified and challenges encountered (English)

1 reference

limb-girdle muscular dystrophy

2 August 2017

1 reference

Kristin K McDonald

1

0 references

Allison Ashley-Koch

object named as

Allison E Ashley-Koch

4

0 references

author name string

Jeffrey Stajich

2

1 reference

2 August 2017

Colette Blach

3

1 reference

2 August 2017

Michael A Hauser

5

1 reference

2 August 2017

language of work or name

English

0 references

publication date

14 November 2012

1 reference

2 August 2017

1 reference

2 August 2017

7

1 reference

2 August 2017

11

1 reference

2 August 2017

e48864

1 reference

Creative Commons Attribution 4.0 International

2 August 2017

start time

14 November 2012

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

describes a project that uses

SQL

1 reference

26 June 2022

https://europepmc.org/article/PMC/PMC3498247

inferred from PubMed Central ID database lookup

cites work

Exome sequencing and the genetic basis of complex traits

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3498247

Next generation sequencing for molecular diagnosis of neuromuscular 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=3498247

Challenges in whole exome sequencing: an example from hereditary deafness

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3498247

An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3498247

Etiology of limb girdle muscular dystrophy 1D/1E determined by laser capture microdissection proteomics

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3498247

Exome sequencing: dual role as a discovery and diagnostic tool

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3498247

Exome sequencing: the expert view

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3498247

A framework for variation discovery and genotyping using next-generation DNA sequencing 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=3498247

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing 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=3498247

Efficient identification of novel mutations in patients with limb girdle muscular dystrophy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3498247

DNA sequencing errors in molecular diagnostics of filamin myopathy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3498247

A new era in clinical genetic testing for hypertrophic cardiomyopathy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3498247

The Sequence Alignment/Map format and SAMtools

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3498247

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=3498247

Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3498247

Proper perinuclear localization of the TRIM-like protein myospryn requires its binding partner desmin.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3498247

Muscle intermediate filaments and their links to membranes and membranous organelles

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3498247

Primer3Plus, an enhanced web interface to Primer3

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3498247

A mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar myopathy.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3498247

Structural and functional aspects of filamins

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3498247

Filamins as integrators of cell mechanics and signalling

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3498247

Desmin splice variants causing cardiac and skeletal myopathy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3498247

Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3498247

Missense mutations in desmin associated with familial cardiac and skeletal myopathy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3498247

PLN-encoded phospholamban mutation in a large cohort of hypertrophic cardiomyopathy cases: summary of the literature and implications for genetic testing.

6 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0048864

Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0048864

The pathomechanism of filaminopathy: altered biochemical properties explain the cellular phenotype of a protein aggregation myopathy

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23155419

12 December 2020

inferred from PubMed ID database lookup

Detection of Duchenne/Becker muscular dystrophy carriers in a group of Iranian families by linkage analysis

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23155419

12 December 2020

inferred from PubMed ID database lookup

Exome sequencing reveals SPG11 mutations causing juvenile ALS

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23155419

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1371/JOURNAL.PONE.0048864

1 reference

2 August 2017

0 references

1 reference

2 August 2017

1 reference