Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population (Q39730574)

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scientific article published on 28 May 2016

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English	Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population	scientific article published on 28 May 2016

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scholarly article

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Europe PubMed Central

PubMed publication ID

14 September 2017

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

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14 September 2017

Shahriar Nafissi

9

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7 June 2020

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7 June 2020

Ariana Kariminejad

13

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7 June 2020

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Z Fattahi

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7 June 2020

Z Kalhor

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7 June 2020

M Fadaee

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7 June 2020

R Vazehan

4

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7 June 2020

E Parsimehr

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7 June 2020

A Abolhassani

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7 June 2020

M Beheshtian

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7 June 2020

G Zamani

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7 June 2020

Y Nilipour

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7 June 2020

M R Akbari

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7 June 2020

H Najmabadi

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7 June 2020

publication date

28 May 2016

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14 September 2017

Clinical Genetics

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7 June 2020

91

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7 June 2020

3

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7 June 2020

386-402

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7 June 2020

Genetics of neuromuscular disorders

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21 January 2018

Fast and accurate short read alignment with Burrows-Wheeler transform

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https://api.crossref.org/works/10.1111/CGE.12810

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

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https://api.crossref.org/works/10.1111/CGE.12810

21 January 2018

dbNSFP v2.0: a database of human non-synonymous SNVs and their functional predictions and annotations

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21 January 2018

Limb-girdle muscular dystrophy with α-dystroglycan deficiency and mutations in the ISPD gene.

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21 January 2018

Report of limb girdle muscular dystrophy type 2a in 6 Iranian patients, one with a novel deletion in CAPN3 gene.

1 reference

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21 January 2018

Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes

1 reference

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21 January 2018

An integrated diagnosis strategy for congenital myopathies.

1 reference

https://api.crossref.org/works/10.1111/CGE.12810

21 January 2018

Analysis of the UK diagnostic strategy for limb girdle muscular dystrophy 2A.

1 reference

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21 January 2018

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

1 reference

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21 January 2018

Mutation in Exon 1f of PLEC, Leading to Disruption of Plectin Isoform 1f, Causes Autosomal-Recessive Limb-Girdle Muscular Dystrophy

1 reference

https://api.crossref.org/works/10.1111/CGE.12810

21 January 2018

Congenital muscular dystrophy, myasthenic symptoms and epidermolysis bullosa simplex (EBS) associated with mutations in the PLEC1 gene encoding plectin.

1 reference

https://api.crossref.org/works/10.1111/CGE.12810

21 January 2018

Molecular diagnosis of inheritable neuromuscular disorders. Part II: Application of genetic testing in neuromuscular disease

1 reference

https://api.crossref.org/works/10.1111/CGE.12810

21 January 2018

Exome sequencing can improve diagnosis and alter patient management

1 reference

https://api.crossref.org/works/10.1111/CGE.12810

21 January 2018

Diagnosis by sequencing: correction of misdiagnosis from FSHD2 to LGMD2A by whole-exome analysis

1 reference

https://api.crossref.org/works/10.1111/CGE.12810

21 January 2018

A practical approach to molecular diagnostic testing in neuromuscular diseases

1 reference

https://api.crossref.org/works/10.1111/CGE.12810

21 January 2018

Utilization and diagnostic yield of neurogenetic testing at a tertiary care facility

1 reference

https://api.crossref.org/works/10.1111/CGE.12810

21 January 2018

Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome/genome sequencing

1 reference

https://api.crossref.org/works/10.1111/CGE.12810

21 January 2018

Challenges of bringing next generation sequencing technologies to clinical molecular diagnostic laboratories

1 reference

https://api.crossref.org/works/10.1111/CGE.12810

21 January 2018

Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing

1 reference

https://api.crossref.org/works/10.1111/CGE.12810

21 January 2018

Clinical application of exome sequencing in undiagnosed genetic conditions

1 reference

https://api.crossref.org/works/10.1111/CGE.12810

21 January 2018

Diagnostic exome sequencing in persons with severe intellectual disability

1 reference

https://api.crossref.org/works/10.1111/CGE.12810

21 January 2018

Exome sequencing and genetic testing for MODY.

1 reference

https://api.crossref.org/works/10.1111/CGE.12810

21 January 2018

The NIH Undiagnosed Diseases Program and Network: Applications to modern medicine

1 reference

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21 January 2018

Use of targeted exome sequencing as a diagnostic tool for Familial Hypercholesterolaemia

1 reference

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21 January 2018

Exome sequencing is an efficient tool for genetic screening of Charcot-Marie-Tooth disease.

1 reference

https://api.crossref.org/works/10.1111/CGE.12810

21 January 2018

Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

1 reference

https://api.crossref.org/works/10.1111/CGE.12810

21 January 2018

Clinical whole-exome sequencing for the diagnosis of mendelian disorders

1 reference

https://api.crossref.org/works/10.1111/CGE.12810

21 January 2018

Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood

1 reference

https://api.crossref.org/works/10.1111/CGE.12810

21 January 2018

Impact of next generation sequencing on diagnostics in a genetic skin disease clinic

1 reference

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21 January 2018

Exome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis

1 reference

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21 January 2018

Exome sequencing as a diagnostic tool for pediatric-onset ataxia

1 reference

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21 January 2018

Whole exome sequencing unravels disease-causing genes in consanguineous families in Qatar

1 reference

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21 January 2018

Next generation sequencing in nonsyndromic intellectual disability: from a negative molecular karyotype to a possible causative mutation detection.

1 reference

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21 January 2018

Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies

1 reference

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21 January 2018

Clinical whole exome sequencing in child neurology practice.

1 reference

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21 January 2018

Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges

1 reference

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21 January 2018

DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome

1 reference

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21 January 2018

Application of whole exome sequencing in undiagnosed inherited polyneuropathies.

1 reference

https://api.crossref.org/works/10.1111/CGE.12810

21 January 2018

Molecular findings among patients referred for clinical whole-exome sequencing

1 reference

https://api.crossref.org/works/10.1111/CGE.12810

21 January 2018

Clinical exome sequencing for genetic identification of rare Mendelian disorders

1 reference

https://api.crossref.org/works/10.1111/CGE.12810

21 January 2018

Whole-exome sequencing improves mutation detection in a diagnostic epidermolysis bullosa laboratory.

1 reference

https://api.crossref.org/works/10.1111/CGE.12810

21 January 2018

Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound

1 reference

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21 January 2018

Genome sequencing identifies major causes of severe intellectual disability

1 reference

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21 January 2018

Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia

1 reference

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21 January 2018

The usefulness of whole-exome sequencing in routine clinical practice

1 reference

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21 January 2018

Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders

1 reference

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21 January 2018

Exome sequencing of 18 Chinese families with congenital cataracts: a new sight of the NHS gene

1 reference

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21 January 2018

Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophies

1 reference

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21 January 2018

Exome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects

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21 January 2018

Exome sequencing in undiagnosed inherited and sporadic ataxias

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Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study

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21 January 2018

Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.

1 reference

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21 January 2018

Clinical Impact and Cost-Effectiveness of Whole Exome Sequencing as a Diagnostic Tool: A Pediatric Center's Experience.

1 reference

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High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders

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21 January 2018

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

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Translating exome sequencing from research to clinical diagnostics

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Clinical whole-exome sequencing: are we there yet?

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21 January 2018

Impact of new genomic tools on the practice of clinical genetics in consanguineous populations: the Saudi experience

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21 January 2018

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

1 reference

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21 January 2018

Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies

1 reference

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Diagnostic Exome Sequencing to Elucidate the Genetic Basis of Likely Recessive Disorders in Consanguineous Families

1 reference

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21 January 2018

Exon skipping-mediated dystrophin reading frame restoration for small mutations

1 reference

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21 January 2018

Identifiers

10.1111/CGE.12810

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27234031 AND SRC:MED&resulttype=core&format=json

7 June 2020

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27234031 AND SRC:MED&resulttype=core&format=json

7 June 2020

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