A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield (Q43754788)

26 November 2017

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

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26 November 2017

Arunkanth Ankala

1

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26 November 2017

Cristina da Silva

2

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26 November 2017

Francesca Gualandi

3

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26 November 2017

Alessandra Ferlini

4

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26 November 2017

Lora J H Bean

5

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26 November 2017

Christin Collins

6

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26 November 2017

Alice K Tanner

7

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26 November 2017

Madhuri R Hegde

8

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26 November 2017

17 December 2014

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26 November 2017

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26 November 2017

77

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26 November 2017

206-214

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26 November 2017

2

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Limb-girdle and congenital muscular dystrophies: current diagnostics, management, and emerging technologies

26 November 2017

1 reference

The ever-expanding spectrum of congenital muscular dystrophies

21 January 2018

1 reference

New therapies for Duchenne muscular dystrophy: challenges, prospects and clinical trials.

21 January 2018

1 reference

Muscular dystrophy: new challenges and review of the current clinical trials.

21 January 2018

1 reference

Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations

21 January 2018

1 reference

Merosin/laminin-2 and muscular dystrophy

21 January 2018

1 reference

Targeted polymerase chain reaction-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation

21 January 2018

1 reference

Comprehensive mutation analysis for congenital muscular dystrophy: a clinical PCR-based enrichment and next-generation sequencing panel

21 January 2018

1 reference

Assessment of target enrichment platforms using massively parallel sequencing for the mutation detection for congenital muscular dystrophy

21 January 2018

1 reference

Assessment of clinical analytical sensitivity and specificity of next-generation sequencing for detection of simple and complex mutations

21 January 2018

1 reference

Free the data: one laboratory's approach to knowledge-based genomic variant classification and preparation for EMR integration of genomic data

21 January 2018

1 reference

SIFT: Predicting amino acid changes that affect protein function

21 January 2018

1 reference

A method and server for predicting damaging missense mutations

21 January 2018

1 reference

Discovery and characterization of artifactual mutations in deep coverage targeted capture sequencing data due to oxidative DNA damage during sample preparation

21 January 2018

1 reference

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

21 January 2018

1 reference

Evaluation of genomic high-throughput sequencing data generated on Illumina HiSeq and genome analyzer systems

21 January 2018

1 reference

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

21 January 2018

1 reference

Genetics of neuromuscular disorders

21 January 2018

1 reference

Short read (next-generation) sequencing: a tutorial with cardiomyopathy diagnostics as an exemplar

21 January 2018

1 reference

Diagnosis of copy number variation by Illumina next generation sequencing is comparable in performance to oligonucleotide array comparative genomic hybridisation.

21 January 2018

1 reference

Computational tools for copy number variation (CNV) detection using next-generation sequencing data: features and perspectives

21 January 2018

1 reference

Validation of a next-generation sequencing assay for clinical molecular oncology.

21 January 2018

1 reference

Disease-targeted sequencing: a cornerstone in the clinic

21 January 2018

1 reference

Assuring the quality of next-generation sequencing in clinical laboratory practice

21 January 2018

1 reference

College of American Pathologists' laboratory standards for next-generation sequencing clinical tests

21 January 2018

1 reference

Genomic technologies and the new era of genomic medicine

21 January 2018

1 reference

Targeted next-generation sequencing can replace Sanger sequencing in clinical diagnostics

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1002/ANA.24303

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26 November 2017

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