Comparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testing (Q28652730)

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English	Comparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testing	scientific article

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scholarly article

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Comparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testing (English)

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clinical chemistry

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1 reference

based on heuristic

inferred from title

Gemma Montalban

object named as

Gemma Montalban

13

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Toshio Yoshimatsu

object named as

Toshio Yoshimatsu

15

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Gorka Ruiz de Garibay

object named as

Gorka Ruiz de Garibay

22

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object named as

Mara Colombo

31

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object named as

Logan Walker

48

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object named as

Laura Fachal

25

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Sara Gutiérrez-Enríquez

object named as

Sara Gutiérrez-Enríquez

10

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Melissa A Brown

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Melissa A Brown

50

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object named as

Diana Baralle

34

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Maria Adelaide Caligo

object named as

Maria Caligo

33

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object named as

Orland Diez

44

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object named as

Paolo Radice

37

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Amanda B Spurdle

49

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Melissa C. Southey

object named as

Melissa C Southey

38

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Miguel de la Hoya

object named as

Miguel de la Hoya

2

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object named as

Kathleen Claes

46

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Barbara Wappenschmidt

47

object named as

Barbara Wappenschmidt

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Susan L Neuhausen

39

object named as

Susan Neuhausen

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Fergus J. Couch

36

object named as

Fergus Couch

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Inge Søkilde Pedersen

6

object named as

Inge Sokilde Pedersen

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27

object named as

Torben Kruse

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Phillip J Whiley

1

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Phillip J Whiley

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21

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Lucia Guidugli

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3

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Mads Thomassen

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7

object named as

Marco Montagna

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11

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Kim De Leeneer

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17

object named as

Michela Raponi

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Trinidad Caldes

18

object named as

Trinidad Caldes

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Marta Santamariña

20

object named as

Marta Santamariña

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26

object named as

Yuan Chun Ding

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28

object named as

Vanessa Lattimore

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29

object named as

Ava Kwong

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35

object named as

Conxi Lázaro

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Claude Houdayer

40

object named as

Claude Houdayer

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Thomas van Overeem Hansen

42

object named as

Thomas Van Overeem Hansen

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Mireia Menéndez

8

object named as

Mireia Menéndez

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Mariella Tancredi

24

object named as

Mariella Tancredi

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author name string

Alexandra Becker

4

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Rita Brandão

5

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Francisco Quiles

9

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Anna Tenés

12

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Demis Tserpelis

14

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Carole Tirapo

16

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Ana Blanco

19

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Ming Wong

23

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Tsun Leung Chan

30

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Giovanni De Vecchi

32

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Jim Fackenthal

41

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Ana Vega

43

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Rien Blok

45

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language of work or name

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publication date

February 2014

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Clinical Chemistry

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60

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2

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341-52

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Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4351044

17 March 2017

Evaluation of a 5-tier scheme proposed for classification of sequence variants using bioinformatic and splicing assay data: inter-reviewer variability and promotion of minimum reporting guidelines

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4351044

20 June 2018

Comparative in vitro and in silico analyses of variants in splicing regions of BRCA1 and BRCA2 genes and characterization of novel pathogenic mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4351044

20 June 2018

Identification of fifteen novel germline variants in the BRCA1 3'UTR reveals a variant in a breast cancer case that introduces a functional miR-103 target site

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4351044

20 June 2018

ENIGMA--evidence-based network for the interpretation of germline mutant alleles: an international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4351044

20 June 2018

Contribution of bioinformatics predictions and functional splicing assays to the interpretation of unclassified variants of the BRCA genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4351044

20 June 2018

Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4351044

20 June 2018

Role of 5'- and 3'-untranslated regions of mRNAs in human diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4351044

20 June 2018

Prediction and assessment of splicing alterations: implications for clinical testing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4351044

20 June 2018

Spectrum and characterisation of BRCA1 and BRCA2 deleterious mutations in high-risk Czech patients with breast and/or ovarian cancer.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4351044

20 June 2018

Functional assays for classification of BRCA2 variants of uncertain significance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4351044

20 June 2018

Intronic alterations in BRCA1 and BRCA2: effect on mRNA splicing fidelity and expression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4351044

20 June 2018

Differentiating pathogenic mutations from polymorphic alterations in the splice sites of BRCA1 and BRCA2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4351044

20 June 2018

A comprehensive model for familial breast cancer incorporating BRCA1, BRCA2 and other genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4351044

20 June 2018

The R71G BRCA1 is a founder Spanish mutation and leads to aberrant splicing of the transcript

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4351044

20 June 2018

Expression profiles of BRCA1 splice variants in asynchronous and in G1/S synchronized tumor cell lines

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4351044

20 June 2018

Reliable genotyping of samples with very low DNA quantities using PCR.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4351044

20 June 2018

Expression of human BRCA1Δ17-19 alternative splicing variant with a truncated BRCT domain in MCF-7 cells results in impaired assembly of DNA repair complexes and aberrant DNA damage response.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4351044

27 November 2018

Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4351044

27 November 2018

Assessing the RNA effect of 26 DNA variants in the BRCA1 and BRCA2 genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4351044

27 November 2018

Comprehensive prediction of mRNA splicing effects of BRCA1 and BRCA2 variants

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4351044

27 November 2018

A high proportion of DNA variants of BRCA1 and BRCA2 is associated with aberrant splicing in breast/ovarian cancer patients.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4351044

27 November 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4351044

27 November 2018

Screening BRCA1 and BRCA2 unclassified variants for splicing mutations using reverse transcription PCR on patient RNA and an ex vivo assay based on a splicing reporter minigene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4351044

27 November 2018

Molecular characterization and cancer risk associated withBRCA1 andBRCA2 splice site variants identified in multiple-case breast cancer families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4351044

27 November 2018

Genetic, functional, and histopathological evaluation of two C-terminal BRCA1 missense variants

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4351044

27 November 2018

Germline mutations of the BRCA1 gene in breast and ovarian cancer families provide evidence for a genotype–phenotype correlation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4351044

27 November 2018

Intronic variants in BRCA1 and BRCA2 that affect RNA splicing can be reliably selected by splice-site prediction programs

1 reference

https://pubmed.ncbi.nlm.nih.gov/24212087

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Unclassified variants in BRCA genes: guidelines for interpretation

1 reference

https://pubmed.ncbi.nlm.nih.gov/24212087

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1373/CLINCHEM.2013.210658

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PMC publication ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PubMed publication ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

ResearchGate publication ID

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