(Q28264559)

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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

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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 (English)

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Dominique Stoppa-Lyonnet

28

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Dominique Stoppa-Lyonnet

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Rosette Lidereau

20

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Rosette Lidereau

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Virginie Caux-Moncoutier

2

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Virginie Caux-Moncoutier

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Brigitte Bressac-de Paillerets

24

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Brigitte Bressac-de Paillerets

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Sylvie Mazoyer

13

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Jean-Philippe Vert

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Jean-Philippe Vert

19

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Claude Houdayer

1

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Claude Houdayer

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Agnès Hardouin

25

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Agnès Hardouin

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Etienne Rouleau

17

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Etienne Rouleau

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Audrey Remenieras

15

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Audrey Remenieras

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4

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Michel Barrois

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Violaine Bourdon

6

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Violaine Bourdon

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Françoise Révillion

16

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Françoise Révillion

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11

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Cédrick Lefol

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Monique Buisson

8

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Monique Buisson

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Olga M Sinilnikova

27

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Olga M Sinilnikova

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22

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Hagay Sobol

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7

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Myriam Bronner

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author name string

Sophie Krieger

3

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Françoise Bonnet

5

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Florence Coulet

9

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Pascaline Gaildrat

10

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Mélanie Léone

12

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Danielle Muller

14

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Joanna Sokolowska

18

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Florent Soubrier

21

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Nicolas Sevenet

23

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Mario Tosi

26

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language of work or name

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publication date

August 2012

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33

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8

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1228-38

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Unclassified variants identified in BRCA1 exon 11: Consequences on splicing.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22101

21 January 2018

Cold shock induces the insertion of a cryptic exon in the neurofibromatosis type 1 (NF1) mRNA

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22101

21 January 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://api.crossref.org/works/10.1002%2FHUMU.22101

21 January 2018

Listening to silence and understanding nonsense: exonic mutations that affect splicing

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22101

21 January 2018

ESEfinder: A web resource to identify exonic splicing enhancers

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22101

21 January 2018

Impact of BRCA1 and BRCA2 variants on splicing: clues from an allelic imbalance study

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22101

21 January 2018

Genome-wide association between branch point properties and alternative splicing

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22101

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22101

21 January 2018

SMN2 exon 7 splicing is inhibited by binding of hnRNP A1 to a common ESS motif that spans the 3' splice site

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22101

21 January 2018

Predictive identification of exonic splicing enhancers in human genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22101

21 January 2018

Use of splicing reporter minigene assay to evaluate the effect on splicing of unclassified genetic variants.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22101

21 January 2018

Alternative splicing at a NAGNAG acceptor site as a novel phenotype modifier

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22101

21 January 2018

Tumor characteristics as an analytic tool for classifying genetic variants of uncertain clinical significance.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22101

21 January 2018

Effects of intronic mutations in the LDLR gene on pre-mRNA splicing: Comparison of wet-lab and bioinformatics analyses

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22101

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22101

21 January 2018

Prolonged pursuit by optokinetic drum testing in asymptomatic female carriers of novel FRMD7 splice mutation c.1050 +5 G>A.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22101

21 January 2018

In silico and in vivo splicing analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22101

21 January 2018

Virtual screening with support vector machines and structure kernels

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22101

21 January 2018

The c.5242C>A BRCA1 missense variant induces exon skipping by increasing splicing repressors binding

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22101

21 January 2018

Automated splicing mutation analysis by information theory.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22101

21 January 2018

Emerging roles of BRCA1 alternative splicing

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22101

21 January 2018

Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22101

21 January 2018

Improved splice site detection in Genie

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22101

21 January 2018

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22101

21 January 2018

Prediction and assessment of splicing alterations: implications for clinical testing

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22101

21 January 2018

Random forest: a classification and regression tool for compound classification and QSAR modeling

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22101

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22101

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22101

21 January 2018

A large fraction of unclassified variants of the mismatch repair genesMLH1andMSH2is associated with splicing defects

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22101

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22101

21 January 2018

Splicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from the intron/exon boundary

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22101

21 January 2018

Extensive in silico analysis of NF1 splicing defects uncovers determinants for splicing outcome upon 5' splice-site disruption.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22101

21 January 2018

Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22101

21 January 2018

RNA landscape of evolution for optimal exon and intron discrimination

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22101

21 January 2018

EMMA, a cost- and time-effective diagnostic method for simultaneous detection of point mutations and large-scale genomic rearrangements: application to BRCA1 and BRCA2 in 1,525 patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22101

7 January 2021

based on heuristic

inferred from DOI database lookup

A deep intronic mutation in the RB1 gene leads to intronic sequence exonisation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22101

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22101

7 January 2021

based on heuristic

inferred from DOI database lookup

Illegitimate splicing of the NF1 gene in healthy individuals mimics mutation-induced splicing alterations in NF1 patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22101

7 January 2021

based on heuristic

inferred from DOI database lookup

[Validation of the Düsseldorfer screening tool: a trait-based approach to assess psychological distress of cancer patients]

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22101

7 January 2021

based on heuristic

inferred from DOI database lookup

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