(Q37164451)

18 August 2017

Development of genomic reference materials for cystic fibrosis genetic testing (English)

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18 August 2017

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Victoria M Pratt

1

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18 August 2017

Michele Caggana

2

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18 August 2017

Christina Bridges

3

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18 August 2017

Arlene M Buller

4

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18 August 2017

Lisa DiAntonio

5

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18 August 2017

W Edward Highsmith

6

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18 August 2017

Leonard M Holtegaard

7

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18 August 2017

Kasinathan Muralidharan

8

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18 August 2017

Elizabeth M Rohlfs

9

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18 August 2017

Jack Tarleton

10

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18 August 2017

Lorraine Toji

11

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18 August 2017

Shannon D Barker

12

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18 August 2017

Lisa V Kalman

13

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18 August 2017

9 April 2009

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The Journal of Molecular Diagnostics

18 August 2017

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18 August 2017

11

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18 August 2017

3

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18 August 2017

186-193

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describes a project that uses

18 August 2017

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The costs of using unauthenticated, over-passaged cell lines: how much more data do we need?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671335

A comparative study of five technologically diverse CFTR testing platforms

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671335

Design, development, validation, and use of synthetic nucleic acid controls for diagnostic purposes and application to cystic fibrosis testing

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671335

Technical validation of a TM Biosciences Luminex-based multiplex assay for detecting the American College of Medical Genetics recommended cystic fibrosis mutation panel

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671335

Newborn screening: toward a uniform screening panel and system

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671335

ACOG Committee Opinion. Number 325, December 2005. Update on carrier screening for cystic fibrosis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671335

Developing a sustainable process to provide quality control materials for genetic testing

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671335

Microsphere bead arrays and sequence validation of 5/7/9T genotypes for multiplex screening of cystic fibrosis polymorphisms

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671335

Technical standards and guidelines for Huntington disease testing

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671335

Establishment of Stably EBV-Transformed Cell Lines from Residual Clinical Blood Samples for Use in Performance Evaluation and Quality Assurance in Molecular Genetic Testing

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671335

Quality Assurance in Human Molecular Genetics Testing: Status and Recommendations

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671335

Frequency and clinical significance of the S1235R mutation in the cystic fibrosis transmembrane conductance regulator gene: results from a collaborative study

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671335

A simple salting out procedure for extracting DNA from human nucleated cells

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671335

Genetically characterized positive control cell lines derived from residual clinical blood samples

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671335

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671335

The Cystic Fibrosis mutation "arms race": when less is more

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671335

Cell biology. Cases of mistaken identity.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671335

Extensive sequencing of the cystic fibrosis transmembrane regulator gene: assay validation and unexpected benefits of developing a comprehensive test

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671335

Improved detection of cystic fibrosis mutations in the heterogeneous U.S. population using an expanded, pan-ethnic mutation panel

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671335

Laboratory standards and guidelines for population-based cystic fibrosis carrier screening

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671335

Successful transformation of cryopreserved lymphocytes: a resource for epidemiological studies

3 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19359498

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Association for Molecular Pathology statement. Recommendations for in-house development and operation of molecular diagnostic tests

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19359498

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Introduction to PCR/OLA/SCS, a multiplex DNA test, and its application to cystic fibrosis

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19359498

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.2353/JMOLDX.2009.080149

1 reference

18 August 2017

1 reference

18 August 2017

PubMed publication ID

19359498

1 reference