(Q35798854)

10 August 2017

title

Validation of a semiconductor next-generation sequencing assay for the clinical genetic screening of CFTR. (English)

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10 August 2017

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Daniel Trujillano

1

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10 August 2017

Maximilian E R Weiss

2

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10 August 2017

Julia Köster

3

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10 August 2017

Efstathios B Papachristos

4

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10 August 2017

Martin Werber

5

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10 August 2017

Krishna Kumar Kandaswamy

6

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10 August 2017

Anett Marais

7

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10 August 2017

Sabrina Eichler

8

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10 August 2017

Jenny Creed

9

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10 August 2017

Erol Baysal

10

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10 August 2017

Iqbal Yousuf Jaber

11

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10 August 2017

Dina Ahmed Mehaney

12

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10 August 2017

Chantal Farra

13

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10 August 2017

Arndt Rolfs

14

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10 August 2017

publication date

16 April 2015

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Molecular genetics & genomic medicine

10 August 2017

published in

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10 August 2017

volume

3

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10 August 2017

issue

5

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10 August 2017

page(s)

396-403

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Targeted next-generation sequencing effectively analyzed the cystic fibrosis transmembrane conductance regulator gene in pancreatitis

10 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4585447

Development of allele-specific multiplex PCR to determine the length of poly-T in intron 8 of CFTR.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4585447

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4585447

Framework for interpretation of genetic variations in pancreatitis patients

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4585447

Integrative genomics viewer

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4585447

A standardized framework for the validation and verification of clinical molecular genetic tests

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4585447

Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4585447

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4585447

Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders--updated European recommendations

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4585447

Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4585447

Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4585447

Cystic fibrosis: a worldwide analysis of CFTR mutations--correlation with incidence data and application to screening

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4585447

Two-sided confidence intervals for the single proportion: comparison of seven methods

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4585447

Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations. The Biomed CF Mutation Analysis Consortium

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4585447

Identification of the cystic fibrosis gene: chromosome walking and jumping

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4585447

Identification of the cystic fibrosis gene: genetic analysis

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4585447

Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4585447

Clinical investigational studies for validation of a next-generation sequencing in vitro diagnostic device for cystic fibrosis testing.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4585447

Development of a next-generation sequencing method for BRCA mutation screening: a comparison between a high-throughput and a benchtop platform

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4585447

25 September 2018

1 reference

https://api.crossref.org/works/10.1002%2FMGG3.149

The prevalence of cystic fibrosis in the European Union

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26436105

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/MGG3.149

1 reference

10 August 2017

1 reference

10 August 2017

1 reference