(Q38922232)

7 September 2017

Small-scale high-throughput sequencing-based identification of new therapeutic tools in cystic fibrosis (English)

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high-throughput sequencing

7 September 2017

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12

Mireille Claustres

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7 September 2017

Sylvie Tuffery-Giraud

10

object named as

Sylvie Tuffery-Giraud

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7 September 2017

Jennifer Bonini

1

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7 September 2017

Jessica Varilh

2

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7 September 2017

Caroline Raynal

3

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7 September 2017

Corinne Thèze

4

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7 September 2017

Emmanuelle Beyne

5

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7 September 2017

Marie-Pierre Audrezet

6

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7 September 2017

Claude Ferec

7

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7 September 2017

Thierry Bienvenu

8

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7 September 2017

Emmanuelle Girodon

9

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7 September 2017

Marie Des Georges

11

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7 September 2017

Magali Taulan-Cadars

13

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7 September 2017

language of work or name

English

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publication date

8 January 2015

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7 September 2017

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7 September 2017

17

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10

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7 September 2017

796-806

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https://scigraph.springernature.com/pub.10.1038/gim.2014.194

7 September 2017

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cites work

Characterization of a disease-associated mutation affecting a putative splicing regulatory element in intron 6b of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.194

Targeted capture and massively parallel sequencing of 12 human exomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.194

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.194

A decade's perspective on DNA sequencing technology

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.194

Sequencing technologies - the next generation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.194

Next generation diagnostics of cystic fibrosis and CFTR-related disorders by targeted multiplex high-coverage resequencing of CFTR.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.194

A comprehensive assay for CFTR mutational analysis using next-generation sequencing.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.194

A classification model relative to splicing for variants of unknown clinical significance: application to the CFTR gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.194

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.194

Evaluation of in silico splice tools for decision-making in molecular diagnosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.194

Ex vivo splicing assays of mutations at noncanonical positions of splice sites in USHER genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.194

Experimental assessment of splicing variants using expression minigenes and comparison with in silico predictions

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.194

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.194

Influence of the duplication of CFTR exon 9 and its flanking sequences on diagnosis of cystic fibrosis mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.194

Quality scores and SNP detection in sequencing-by-synthesis systems

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.194

Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.194

Identification of IFRD1 as a modifier gene for cystic fibrosis lung disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.194

Disease-modifying genes and monogenic disorders: experience in cystic fibrosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.194

A new type of mutation causes a splicing defect in ATM.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.194

Molecular mechanisms controlling CFTR gene expression in the airway

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.194

Gene mutation in microRNA target sites of CFTR gene: a novel pathogenetic mechanism in cystic fibrosis?

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.194

Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.194

Usher syndrome type 2 caused by activation of an USH2A pseudoexon: implications for diagnosis and therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.194

Deep-intronic ATM mutation detected by genomic resequencing and corrected in vitro by antisense morpholino oligonucleotide (AMO).

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.194

Splicing therapy for neuromuscular disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.194

Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23)

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.194

Five Percent of Normal Cystic Fibrosis Transmembrane Conductance Regulator mRNA Ameliorates the Severity of Pulmonary Disease in Cystic Fibrosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.194

A recurrent deep-intronic splicing CF mutation emphasizes the importance of mRNA studies in clinical practice

21 January 2018

1 reference

12 December 2020

Prediction of mutant mRNA splice isoforms by information theory-based exon definition.

1 reference

12 December 2020

Variants in CFTR untranslated regions are associated with congenital bilateral absence of the vas deferens

1 reference

12 December 2020

[CFTR gene analyis in 207 patients with cystic fibrosis in southwest France: high frequency of N1303K and 1811+1.6bA>G mutations]

1 reference

12 December 2020

A Novel Mutation in the Cystic Fibrosis Gene in Patients with Pulmonary Disease but Normal Sweat Chloride Concentrations

1 reference

12 December 2020

A novel donor splice site in intron 11 of the CFTR gene, created by mutation 1811+1.6kbA-->G, produces a new exon: high frequency in Spanish cystic fibrosis chromosomes and association with severe phenotype.

1 reference

12 December 2020

Antisense-based RNA therapy of factor V deficiency: in vitro and ex vivo rescue of a F5 deep-intronic splicing mutation

1 reference

12 December 2020

Identifiers

DOI

10.1038/GIM.2014.194

1 reference

7 September 2017

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