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Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools
Omar Soukarieh
,
Pascaline Gaildrat
,
Mohamad Hamieh
,
Aurélie Drouet
,
Stéphanie Baert-Desurmont
,
et al.
Article dans une revue
inserm-02160189v1
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Multiple sequence variants of BRCA2 exon 7 alter splicing regulation
Pascaline Gaildrat
,
Sophie E. Krieger
,
Daniela Di Giacomo
,
Julie Abdat
,
Françoise Révillion
,
et al.
Article dans une revue
istex
hal-02336313v1
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Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA report
Irene Lopez-Perolio
,
Raphaël Leman
,
Raquel Behar
,
Vanessa Lattimore
,
John F. Pearson
,
et al.
Article dans une revue
hal-02194498v1
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Detecting splicing patterns in genes involved in hereditary breast and ovarian cancer
Grégoire Davy
,
Antoine Rousselin
,
Nicolas Goardon
,
Laurent Castéra
,
Valentin Harter
,
et al.
Article dans une revue
hal-02336114v1
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Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants
Rossella Tricarico
,
Mariann Kasela
,
Cristina Mareni
,
Bryony Thompson
,
Aurélie Drouet
,
et al.
Article dans une revue
hal-02336175v1
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Contribution of bioinformatics predictions and of functional splicing assays to the interpretation of unclassified variants of the BRCA genes
Jean Christophe Théry
,
Sophie Krieger
,
Pascaline Gaildrat
,
Françoise Révillon
,
Marie-Pierre Buisine
,
et al.
Article dans une revue
hal-00652134v1
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Biallelic Loss of Function of SORL1 in an Early Onset Alzheimer’s Disease Patient
Kilan Le Guennec
,
Hélène Tubeuf
,
Didier Hannequin
,
David Wallon
,
Olivier Quenez
,
et al.
Article dans une revue
hal-02356252v1
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Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort
Raphael Leman
,
Pascaline Gaildrat
,
Gerald L. Gac
,
Chandran Ka
,
Yann Fichou
,
et al.
Article dans une revue
hal-01910334v1
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Use of Splicing Reporter Minigene Assay to Evaluate the Effect on Splicing of Unclassified Genetic Variants
Pascaline Gaildrat
,
Audrey Killian
,
Alexandra Martins
,
Isabelle Tournier
,
Thierry Frebourg
,
et al.
Chapitre d'ouvrage
hal-02336373v1
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Genetic variants of prospectively demonstrated phenocopies in BRCA1/2 kindreds
Mev Dominguez-Valentin
,
D. Gareth R. Evans
,
Sigve Nakken
,
Hélène Tubeuf
,
Daniel Vodak
,
et al.
Article dans une revue
hal-02336104v1
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A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America
Benedito Mauro Rossi
,
Edenir Inêz Palmero
,
Francisco López-Kostner
,
Carlos Sarroca
,
Carlos Alberto Vaccaro
,
et al.
Article dans une revue
hal-02336124v1
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THE BRCA1 c.5434C>G (p.PRO1812ALA) VARIANT INDUCES A DELETERIOUS EXON 23 SKIPPING BY AFFECTING EXONIC SPLICING REGULATORY ELEMENTS
Pascaline Gaildrat
,
Sophie Krieger
,
Jean-Christophe Thery
,
Audrey Killian
,
Antoine Rousselin
,
et al.
Article dans une revue
hal-00557379v1
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SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing
Raphaël Leman
,
Béatrice Parfait
,
Dominique Vidaud
,
Emmanuelle Girodon
,
Laurence Pacot
,
et al.
Article dans une revue
hal-04188077v1
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Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using BRCA2 Exon 3 as a Model System
Hélène Tubeuf
,
Sandrine M. Caputo
,
Teresa Sullivan
,
Julie Rondeaux
,
Sophie Krieger
,
et al.
Article dans une revue
hal-03597164v1
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Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms
Miguel de La Hoya
,
Omar Soukarieh
,
Irene Lopez-Perolio
,
Ana Vega
,
Logan Walker
,
et al.
Article dans une revue
hal-02336165v1
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Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons
Brian N. Harding
,
Amanda Moccia
,
Séverine Drunat
,
Omar Soukarieh
,
Hélène Tubeuf
,
et al.
Article dans une revue
hal-02324787v1
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A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects
Isabelle Tournier
,
Myriam Vezain
,
Alexandra Martins
,
Francoise Charbonnier
,
Stéphanie Baert-Desurmont
,
et al.
Article dans une revue
hal-02336389v1
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Skipping Nonsense to Maintain Function: The Paradigm of BRCA2 Exon 12
Laëtitia Meulemans
,
Romy L.S. Mesman
,
Sandrine Caputo
,
Sophie Krieger
,
Marine Guillaud-Bataille
,
et al.
Article dans une revue
hal-02929535v1
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Functional Analysis of a Large set of BRCA2 exon 7 Variants Highlights the Predictive Value of Hexamer Scores in Detecting Alterations of Exonic Splicing Regulatory Elements
Daniela Di Giacomo
,
Pascaline Gaildrat
,
Anna Abuli
,
Julie Abdat
,
Thierry Frebourg
,
et al.
Article dans une revue
istex
hal-02336301v1
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A leaky splicing mutation affecting SMN1 exon 7 inclusion explains an unexpected mild case of spinal muscular atrophy
Myriam Vezain
,
Bénédicte Gérard
,
Séverine Drunat
,
Benoît Funalot
,
Séverine Fehrenbach
,
et al.
Article dans une revue
istex
hal-02336367v1
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Clinical and molecular characterization of cystinuria in a French cohort: relevance of assessing large-scale rearrangements and splicing variants
Pascaline Gaildrat
,
Saïd Lebbah
,
Abdellah Tebani
,
Bénédicte Sudrié-Arnaud
,
Isabelle Tostivint
,
et al.
Article dans une revue
hal-02336138v1
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Potentially pathogenic germline CHEK2 c.319+2T>A among multiple early-onset cancer families
Mev Dominguez-Valentin
,
Sigve Nakken
,
Hélène Tubeuf
,
Daniel Vodak
,
Per Olaf Ekstrøm
,
et al.
Article dans une revue
hal-02336151v1
|
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Contribution of bioinformatics predictions and functional splicing assays to the interpretation of unclassified variants of the BRCA genes
Jean Christophe Théry
,
Sophie E. Krieger
,
Pascaline Gaildrat
,
Françoise Révillion
,
Marie-Pierre Buisine
,
et al.
Article dans une revue
hal-02336344v1
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A rare SMN2 variant in a previously unrecognized composite splicing regulatory element induces exon 7 inclusion and reduces the clinical severity of spinal muscular atrophy
Myriam Vezain
,
Pascale Saugier-Veber
,
Elisa Goina
,
Renaud Touraine
,
Vã©ronique Manel
,
et al.
Article dans une revue
istex
hal-02336380v1
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Full in-frame exon 3 skipping of BRCA2 confers high risk of breast and/or ovarian cancer
Sandrine Caputo
,
Mélanie Léoné
,
Francesca Damiola
,
Asa Ehlen
,
Aura Carreira
,
et al.
Article dans une revue
hal-01928011v1
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Identification of genetic variants for clinical management of familial colorectal tumors
Mev Dominguez-Valentin
,
Sigve Nakken
,
Hélène Tubeuf
,
Daniel Vodak
,
Per Olaf Ekstrøm
,
et al.
Article dans une revue
hal-02336093v1
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Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database
Bryony Thompson
,
Amanda Spurdle
,
John-Paul Plazzer
,
Marc Greenblatt
,
Kiwamu Akagi
,
et al.
Article dans une revue
hal-02336401v1
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Is BRCA2 involved in early onset colorectal cancer risk?
Mathilde Gay‐bellile
,
Maud Privat
,
Alexandra Martins
,
Sandrine Caputo
,
Céline Pebrel‐richard
,
et al.
Article dans une revue
hal-02518337v1
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