RNAseq analysis for the diagnosis of muscular dystrophy (Q40090286)

17 September 2017

RNAseq analysis for the diagnosis of muscular dystrophy (English)

1 reference

17 September 2017

1 reference

9

1 reference

17 September 2017

6

Cynthia Hawkins

1 reference

17 September 2017

Hernan Gonorazky

1

1 reference

17 September 2017

Minggao Liang

2

1 reference

17 September 2017

Beryl Cummings

3

1 reference

17 September 2017

Monkol Lek

4

1 reference

17 September 2017

Johann Micallef

5

1 reference

17 September 2017

Raveen Basran

7

1 reference

17 September 2017

Ronald Cohn

8

1 reference

17 September 2017

Daniel MacArthur

10

1 reference

17 September 2017

Christian R Marshall

11

1 reference

17 September 2017

Peter N Ray

12

1 reference

17 September 2017

James J Dowling

13

1 reference

17 September 2017

language of work or name

1 reference

8 December 2015

1 reference

Annals of clinical and translational neurology

17 September 2017

1 reference

17 September 2017

3

1 reference

17 September 2017

55-60

1 reference

17 September 2017

1

1 reference

Altered PLP1 splicing causes hypomyelination of early myelinating structures.

17 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4704476

Forward engineering neuronal diversity using direct reprogramming

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4704476

A mixed methods study of age at diagnosis and diagnostic odyssey for Duchenne muscular dystrophy

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4704476

Application of next-generation sequencing technologies in Neurology

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4704476

A highly conserved program of neuronal microexons is misregulated in autistic brains

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4704476

The burden of Duchenne muscular dystrophy: an international, cross-sectional study

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4704476

Clinical whole-exome sequencing for the diagnosis of mendelian disorders

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4704476

Progressive muscular dystrophies

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4704476

Differential analysis of gene regulation at transcript resolution with RNA-seq

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4704476

STAR: ultrafast universal RNA-seq aligner

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4704476

Induced pluripotent stem cells: the new patient?

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4704476

GENCODE: the reference human genome annotation for The ENCODE Project

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4704476

Exome versus transcriptome sequencing in identifying coding region variants

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4704476

Cost of illness and economic evaluation in rare diseases.

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4704476

Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4704476

Non-coding VMA21 deletions cause X-linked myopathy with excessive autophagy.

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4704476

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

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4704476

Becker muscular dystrophy caused by an intronic mutation reducing the efficiency of the splice donor site of intron 26 of the dystrophin gene

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4704476

Using complementary DNA from MyoD-transduced fibroblasts to sequence large muscle genes

20 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26783550

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

When a mid-intronic variation of DMD gene creates an ESE site

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26783550

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/ACN3.267

1 reference

17 September 2017

1 reference

17 September 2017

1 reference