The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States (Q37607062)

21 August 2017

The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States (English)

1 reference

21 August 2017

United States of America

1 reference

Hemakumar M Reddy

1

0 references

Catherine A. Brownstein

object named as

Catherine A Brownstein

11

0 references

Timothy W Yu

object named as

Timothy W Yu

13

0 references

Basil T Darras

object named as

Basil T Darras

8

0 references

author name string

Kyung-Ah Cho

2

1 reference

21 August 2017

Monkol Lek

3

1 reference

21 August 2017

Elicia Estrella

4

1 reference

21 August 2017

Elise Valkanas

5

1 reference

21 August 2017

Michael D Jones

6

1 reference

21 August 2017

Satomi Mitsuhashi

7

1 reference

21 August 2017

Anthony A Amato

9

1 reference

21 August 2017

Hart Gw Lidov

10

1 reference

21 August 2017

David M Margulies

12

1 reference

21 August 2017

Mustafa A Salih

14

1 reference

21 August 2017

Louis M Kunkel

15

1 reference

21 August 2017

Daniel G MacArthur

16

1 reference

21 August 2017

Peter B Kang

17

1 reference

21 August 2017

6 October 2016

1 reference

Journal of Human Genetics

21 August 2017

1 reference

21 August 2017

62

1 reference

21 August 2017

2

1 reference

21 August 2017

243-252

1 reference

Laminin α2 Deficiency-Related Muscular Dystrophy Mimicking Emery-Dreifuss and Collagen VI related Diseases

21 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5266644

Homozygous nonsense mutation in SGCA is a common cause of limb-girdle muscular dystrophy in Assiut, Egypt

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5266644

Phenotype-Genotype Analysis of Chinese Patients with Early-Onset LMNA-Related Muscular Dystrophy

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5266644

Are all the previously reported genetic variants in limb girdle muscular dystrophy genes pathogenic?

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5266644

Molecular findings among patients referred for clinical whole-exome sequencing

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5266644

Limb-girdle muscular dystrophy subtypes: First-reported cohort from northeastern China

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5266644

Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5266644

Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5266644

A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5266644

Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5266644

Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5266644

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5266644

DMD Trp3X nonsense mutation associated with a founder effect in North American families with mild Becker muscular dystrophy

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5266644

DMD exon 1 truncating point mutations: amelioration of phenotype by alternative translation initiation in exon 6.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5266644

Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5266644

Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5266644

Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5266644

Identification of four novel mutations in the C-terminal membrane spanning domain of the ryanodine receptor 1: association with central core disease and alteration of calcium homeostasis

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5266644

Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5266644

Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5266644

Genetic basis of limb-girdle muscular dystrophies: the 2014 update

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5266644

Update on the genetics of limb girdle muscular dystrophy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5266644

Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5266644

Laminin alpha 2-chain gene mutations in two siblings presenting with limb-girdle muscular dystrophy

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5266644

Variable clinical phenotype in merosin-deficient congenital muscular dystrophy associated with differential immunolabelling of two fragments of the laminin alpha 2 chain

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5266644

Variability in pathogenicity prediction programs: impact on clinical diagnostics

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5266644

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5266644

A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5266644

Exome sequencing identifies a novel SMCHD1 mutation in facioscapulohumeral muscular dystrophy 2.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5266644

Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5266644

Clinical and molecular characterization of limb-girdle muscular dystrophy due to LAMA2 mutations

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5266644

Rapid and cost effective detection of small mutations in the DMD gene by high resolution melting curve analysis

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5266644

Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5266644

Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5266644

Calpainopathy-a survey of mutations and polymorphisms

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5266644

Aberrant splicing in adult onset glycogen storage disease type II (GSDII): molecular identification of an IVS1 (-13T-->G) mutation in a majority of patients and a novel IVS10 ( 1GT-->CT) mutation

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5266644

Congenital neuromuscular disease with uniform type 1 fiber and RYR1 mutation

1 September 2018

1 reference

https://api.crossref.org/works/10.1038/JHG.2016.116

A de novo 13 nt deletion, a newly identified C647W missense mutation and a deletion of exon 18 in infantile onset glycogen storage disease type II (GSDII).

21 January 2018

1 reference

https://api.crossref.org/works/10.1038/JHG.2016.116

DGGE-based whole-gene mutation scanning of the dystrophin gene in Duchenne and Becker muscular dystrophy patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1038/JHG.2016.116

Primary γ-sarcoglycanopathy (LGMD 2C): broadening of the mutational spectrum guided by the immunohistochemical profile

21 January 2018

1 reference

https://api.crossref.org/works/10.1038/JHG.2016.116

Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5266644

Limb-girdle muscular dystrophy in the United States

3 December 2018

1 reference

12 December 2020

Atypical phenotype in two patients with LAMA2 mutations

1 reference

12 December 2020

Genotype–phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations

1 reference

12 December 2020

Muscle MRI in Ullrich congenital muscular dystrophy and Bethlem myopathy

1 reference

12 December 2020

Carrier detection in DMD families with point mutations, using PCR-SSCP and direct sequencing

1 reference

12 December 2020

Utility of a next-generation sequencing-based gene panel investigation in German patients with genetically unclassified limb-girdle muscular dystrophy

1 reference

12 December 2020

Identifiers

DOI

10.1038/JHG.2016.116

1 reference

Dimensions Publication ID

21 August 2017

0 references

1 reference

21 August 2017

PubMed publication ID

27708273

1 reference