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Author/Creator Gaildrat, Pascaline

1. Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants. Issue 1 (17th October 2016)

Authors:
Tricarico, Rossella; Kasela, Mariann; Mareni, Cristina; Thompson, Bryony A.; Drouet, Aurélie; Staderini, Lucia; Gorelli, Greta; Crucianelli, Francesca; Ingrosso, Valentina; Kantelinen, Jukka; Papi, Laura; De Angioletti, Maria; Berardi, Margherita; Gaildrat, Pascaline; Soukarieh, Omar; Turchetti, ...
Journal:
Human mutation
Issue:
Volume 38:Issue 1(2017)
Page Start:
64
Record Type:
Journal Article
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2. Clinical and molecular characterization of cystinuria in a French cohort: relevance of assessing large‐scale rearrangements and splicing variants. Issue 4 (16th May 2017)

Authors:
Gaildrat, Pascaline; Lebbah, Said; Tebani, Abdellah; Sudrié‐Arnaud, Bénédicte; Tostivint, Isabelle; Bollee, Guillaume; Tubeuf, Hélène; Charles, Thomas; Bertholet‐Thomas, Aurelia; Goldenberg, Alice; Barbey, Frederic; Martins, Alexandra; Saugier‐Veber, Pascale; Frébourg, Thierry; Knebelmann, Bertra...
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 5:Issue 4(2017)
Page Start:
373
Record Type:
Journal Article
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3. 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. Issue 11 (18th September 2013)

Authors:
Di Giacomo, Daniela; Gaildrat, Pascaline; Abuli, Anna; Abdat, Julie; Frébourg, Thierry; Tosi, Mario; Martins, Alexandra
Journal:
Human mutation
Issue:
Volume 34:Issue 11(2013:Nov.)
Page Start:
1547
Record Type:
Journal Article
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4. 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. Issue 11 (18th September 2013)

Authors:
Di Giacomo, Daniela; Gaildrat, Pascaline; Abuli, Anna; Abdat, Julie; Frébourg, Thierry; Tosi, Mario; Martins, Alexandra
Journal:
Human mutation
Issue:
Volume 34:Issue 11(2013:Nov.)
Page Start:
1547
Record Type:
Journal Article
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5. 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. Issue 4 (28th January 2021)

Authors:
Saint‐Martin, Cécile; Cauchois‐Le Mière, Marine; Rex, Emily; Soukarieh, Omar; Arnoux, Jean‐Baptiste; Buratti, Julien; Bouvet, Delphine; Frébourg, Thierry; Gaildrat, Pascaline; Shyng, Show‐Ling; Bellanné‐Chantelot, Christine; Martins, Alexandra
Journal:
Human mutation
Issue:
Volume 42:Issue 4(2021)
Page Start:
408
Record Type:
Journal Article
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6. Germline APC mutation spectrum derived from 863 genomic variations identified through a 15-year medical genetics service to French patients with FAP. Issue 10 (3rd August 2010)

Authors:
Lagarde, Arnaud; Rouleau, Etienne; Ferrari, Anthony; Noguchi, Tetsuro; Qiu, Jinghua; Briaux, Adrien; Bourdon, Violaine; Rémy, Virginie; Gaildrat, Pascaline; Adélaïde, José; Birnbaum, Daniel; Lidereau, Rosette; Sobol, Hagay; Olschwang, Sylviane
Journal:
Journal of medical genetics
Issue:
Volume 47:Issue 10(2010)
Page Start:
721
Record Type:
Journal Article
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7. Identification of Variants in the 4q35 Gene FAT1 in Patients with a Facioscapulohumeral Dystrophy‐Like Phenotype. Issue 4 (19th March 2015)

Authors:
Puppo, Francesca; Dionnet, Eugenie; Gaillard, Marie‐Cécile; Gaildrat, Pascaline; Castro, Christel; Vovan, Catherine; Bertaux, Karine; Bernard, Rafaelle; Attarian, Shahram; Goto, Kanako; Nishino, Ichizo; Hayashi, Yukiko; Magdinier, Frédérique; Krahn, Martin; Helmbacher, Françoise; Bartoli, Marc; L...
Journal:
Human mutation
Issue:
Volume 36:Issue 4(2015:Apr.)
Page Start:
443
Record Type:
Journal Article
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8. Large‐scale comparative evaluation of user‐friendly tools for predicting variant‐induced alterations of splicing regulatory elements. Issue 10 (16th August 2020)

Authors:
Tubeuf, Hélène; Charbonnier, Camille; Soukarieh, Omar; Blavier, André; Lefebvre, Arnaud; Dauchel, Hélène; Frebourg, Thierry; Gaildrat, Pascaline; Martins, Alexandra
Journal:
Human mutation
Issue:
Volume 41:Issue 10(2020)
Page Start:
1811
Record Type:
Journal Article
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9. Multiple sequence variants of BRCA2 exon 7 alter splicing regulation. Issue 10 (7th September 2012)

Authors:
Gaildrat, Pascaline; Krieger, Sophie; Di Giacomo, Daniela; Abdat, Julie; Révillion, Françoise; Caputo, Sandrine; Vaur, Dominique; Jamard, Estelle; Bohers, Elodie; Ledemeney, Danielle; Peyrat, Jean-Philippe; Houdayer, Claude; Rouleau, Etienne; Lidereau, Rosette; Frébourg, Thierry; Hardouin, Agnès;...
Journal:
Journal of medical genetics
Issue:
Volume 49:Issue 10(2012)
Page Start:
609
Record Type:
Journal Article
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10. Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort. Issue 15 (10th May 2018)

Authors:
Leman, Raphaël; Gaildrat, Pascaline; Gac, Gérald L; Ka, Chandran; Fichou, Yann; Audrezet, Marie-Pierre; Caux-Moncoutier, Virginie; Caputo, Sandrine M; Boutry-Kryza, Nadia; Léone, Mélanie; Mazoyer, Sylvie; Bonnet-Dorion, Françoise; Sevenet, Nicolas; Guillaud-Bataille, Marine; Rouleau, Etienne; Bre...
Journal:
Nucleic acids research
Issue:
Volume 46:Issue 15(2018)
Page Start:
7913
Record Type:
Journal Article
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