Literature DB >> 31863589

Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort.

Raphaël Leman1,2,3, Pascaline Gaildrat2, Gérald Le Gac4, Chandran Ka4, Yann Fichou4, Marie-Pierre Audrezet4, Virginie Caux-Moncoutier5,6,7, Sandrine M Caputo7, Nadia Boutry-Kryza8, Mélanie Léone8, Sylvie Mazoyer9, Françoise Bonnet-Dorion10, Nicolas Sevenet10, Marine Guillaud-Bataille11, Etienne Rouleau11, Brigitte Bressac-de Paillerets11, Barbara Wappenschmidt12, Maria Rossing13, Danielle Muller14, Violaine Bourdon15, Françoise Revillon16, Michael T Parsons17, Antoine Rousselin1,2, Grégoire Davy1,2, Gaia Castelain2, Laurent Castéra1,2, Joanna Sokolowska18, Florence Coulet19, Capucine Delnatte20, Claude Férec4, Amanda B Spurdle17, Alexandra Martins2, Sophie Krieger1,2,3, Claude Houdayer5,6,7.   

Abstract

Entities:  

Year:  2020        PMID： 31863589      PMCID： PMC7026662          DOI： 10.1093/nar/gkz1212

Source DB:  PubMed          Journal:  Nucleic Acids Res        ISSN： 0305-1048            Impact factor:   16.971


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Nucleic Acids Research, 2018, 46 (15): 7913–7923, https://doi.org/10.1093/nar/gky372 The first version of this article included a misspelling of Gerald Le Gac's name. This has now been corrected online.
  3 in total

1.  Interpretable prioritization of splice variants in diagnostic next-generation sequencing.

Authors:  Daniel Danis; Julius O B Jacobsen; Leigh C Carmody; Michael A Gargano; Julie A McMurry; Ayushi Hegde; Melissa A Haendel; Giorgio Valentini; Damian Smedley; Peter N Robinson
Journal:  Am J Hum Genet       Date:  2021-07-21       Impact factor: 11.025

2.  Functional characterization of ABCC8 variants of unknown significance based on bioinformatics predictions, splicing assays, and protein analyses: Benefits for the accurate diagnosis of congenital hyperinsulinism.

Authors:  Cécile Saint-Martin; Marine Cauchois-Le Mière; Emily Rex; Omar Soukarieh; Jean-Baptiste Arnoux; Julien Buratti; Delphine Bouvet; Thierry Frébourg; Pascaline Gaildrat; Show-Ling Shyng; Christine Bellanné-Chantelot; Alexandra Martins
Journal:  Hum Mutat       Date:  2021-01-28       Impact factor: 4.878

3.  Pervasive Differential Splicing in Marek's Disease Virus can Discriminate CVI-988 Vaccine Strain from RB-1B Very Virulent Strain in Chicken Embryonic Fibroblasts.

Authors:  Yashar Sadigh; Abdessamad Tahiri-Alaoui; Stephen Spatz; Venugopal Nair; Paolo Ribeca
Journal:  Viruses       Date:  2020-03-18       Impact factor: 5.048
  3 in total

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