Torthaí cuardaigh - Stéphanie Baert‐Desurmont

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  1. 1
    Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools

    Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools de réir Omar Soukarieh, Pascaline Gaildrat, Mohamad Hamieh, Aurélie Drouet, Stéphanie Baert‐Desurmont, Thierry Frébourg, Mario Tosi, Alexandra Martins

    Foilsithe / Cruthaithe 2016
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  2. 2
    A large fraction of unclassified variants of the mismatch repair genes<i>MLH1</i>and<i>MSH2</i>is associated with splicing defects

    A large fraction of unclassified variants of the mismatch repair genes<i>MLH1</i>and<i>MSH2</i>is associated with splicing defects de réir Isabelle Tournier, Myriam Vézain, Alexandra Martins, Françoise Charbonnier, Stéphanie Baert‐Desurmont, Sylviane Olschwang, Qing Wang, Marie Pierre Buisine, Johann Soret, Jamal Tazi, Thierry Frébourg, Mario Tosi

    Foilsithe / Cruthaithe 2008
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  3. 3
    2009 Version of the Chompret Criteria for Li Fraumeni Syndrome

    2009 Version of the Chompret Criteria for Li Fraumeni Syndrome de réir Julie Tinat, Gaëlle Bougeard, Stéphanie Baert‐Desurmont, Stéphanie Vasseur, Cosette Martin, Emilie Bouvignies, Olivier Caron, Brigitte Bressac–de Paillerets, Pascaline Berthet, Catherine Dugast, Catherine Bonaïti‐Pellié, Dominique Stoppa‐Lyonnet, Thierry Frébourg

    Foilsithe / Cruthaithe 2009
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  4. 4
    Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes

    Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes de réir Laurent Castéra, Sophie Krieger, Antoine Rousselin, Angélina Legros, Jean-Jacques Baumann, Olivia Bruet, Baptiste Brault, Robin Fouillet, Nicolas Goardon, Olivier Letac, Stéphanie Baert‐Desurmont, Julie Tinat, Odile Béra, Catherine Dugast, Pascaline Berthet, Florence Polycarpe, Valérie Layet, Agnès Hardouin, Thierry Frébourg, Dominique Vaur

    Foilsithe / Cruthaithe 2014
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  5. 5
    Cleft lip/palate and CDH1/E-cadherin mutations in families with hereditary diffuse gastric cancer

    Cleft lip/palate and CDH1/E-cadherin mutations in families with hereditary diffuse gastric cancer de réir Thierry Frébourg, Carla Oliveíra, Patrick Hochain, Rachid Karam, Sylvie Manouvrier, Carla Graziadio, Michel Vekemans, A Hartmann, Stéphanie Baert‐Desurmont, C Alexandre, S Lejeune Dumoulin, Cláudio Augusto Marroni, Cosette Martin, Sérgio Castedo, Michael Lovett, Janet S. Winston, José Carlos Machado, Tania Attié‐Bitach, Ethylin Wang Jabs, Juanliang Cai, P. Pellerin, J.-P. Triboulet, Michel Scotté, Florence Le Pessot, A Hedouin, Fátima Carneiro, Martine Blayau, Raquel Seruca

    Foilsithe / Cruthaithe 2005
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  6. 6
    Assessment of branch point prediction tools to predict physiological branch points and their alteration by variants

    Assessment of branch point prediction tools to predict physiological branch points and their alteration by variants de réir Raphaël Leman, Hélène Tubeuf, Sabine Raad, Isabelle Tournier, Céline Derambure, Raphaël Lanos, Pascaline Gaildrat, G Castelain, Julie Hauchard, Audrey Killian, Stéphanie Baert‐Desurmont, Angélina Legros, Nicolas Goardon, Céline Quesnelle, Agathe Ricou, Laurent Castéra, Dominique Vaur, Gérald Le Gac, Chandran Ka, Yann Fichou, Françoise Bonnet‐Dorion, Nicolas Sévenet, Marine Guillaud-Bataille, Nadia Boutry‐Kryza, Inès Schultz, Virginie Caux‐Moncoutier, Maria Rossing, Logan C. Walker, Amanda B. Spurdle, Claude Houdayer, Alexandra Martins, Sophie Krieger

    Foilsithe / Cruthaithe 2020
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  7. 7
    Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel

    Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Pa... de réir Isabel Spier, Xiaoyu Yin, Marcy E. Richardson, Marta Pineda, Andreas Laner, Deborah Ritter, Julie Boyle, Pilar Mur, Thomas van Overeem Hansen, Xuemei Shi, Khalid Mahmood, John‐Paul Plazzer, Elisabet Ognedal, Margareta Nordling, Susan M. Farrington, Gou Yamamoto, Stéphanie Baert‐Desurmont, Alexandra Martins, Ester Borràs, Carli M.J. Tops, Erica Webb, Victoria Beshay, Maurizio Genuardi, Tina Pesaran, Gabriel Capellà, Sean V. Tavtigian, Andrew Latchford, Ian M. Frayling, Sharon E. Plon, Marc S. Greenblatt, Finlay Macrae, Stefan Aretz

    Foilsithe / Cruthaithe 2023
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  8. 8
    PFMG2025–integrating genomic medicine into the national healthcare system in France

    PFMG2025–integrating genomic medicine into the national healthcare system in France de réir Caroline Abadie, Aldja Abderrahmane, Ouarda Abdous, Carine Abel, O. Ackermann, Cécile Acquaviva, Flavie Ader, Salma Adham, Dalila Adjaoud, Alexandra Afenjar, Nathalie Aladjidi, Anne‐Sophie Alary, F. Albarel, Sabrina Albert, Lise Allard, Ingrid Allix, Violaine Alunni, Inês F. Amado, Cyril Amouroux, Nicolas André, Chloé Angelini, Mathieu Anheim, Ignacio Antolin Sanfelliz, Thomas Aparicio, Chloé Arfeuille, J Arlet, Lionel Arnaud, Pauline Arnaud, Guilhem Arnold, Tania Attié‐Bitach, Marion Aubert‐Mucca, Isabelle Audo, Marie‐Pierre Audrézet, Maxime Auroux, Céline Auzanneau, Xavier Ayrignac, Ibrahima Ba, Anne Bachelot, Delphine Bacq, Séverine Bacrot, Brigitte Bader‐Meunier, Sarah Baer, Stéphanie Baert‐Desurmont, Laurence Bal-Theoleyre, Ralyath Balogoun, Philippe Baltzinger, Guillaume Banneau, Claire Bar, Audrey Barbet, Giulia Barcia, Laure Barjhoux, Anne Barlier, Vincent Barlogis, Marc Barritault, Magalie Barth, Aurore Barthod-Malat, Peggy Baudouin-Cornu, Geneviève Baujat, Amandine Baurand, Jacques‐Olivier Bay, Michèle Beau‐Faller, Jean-Christophe Beaudoin, Rémi Bellance, Christine Bellanné‐Chantelot, C. Bellera, Alexandre Bélot, Raihane Ben Abdeljelil, Rihab Ben Sghaier, Joy Benadiba, S Bénard, Claire Bénéteau, Karelle Bénistan, Fouzia Benkerdou, Mehdi Benkirane, Jean‐François Benoist, Patrick R. Benusiglio, Camille Bergès, Anne Bergougnoux, Maureen Bernadach, Emilien Bernard, Valérie Bernard, Virginie Bernard, Dounia Beroug, Aurélie Berrard, Jérôme Bertherat, Pascaline Berthet, Clotilde Berthier, Aurélia Bertholet‐Thomas, Jean‐Philippe Bertocchio, François Bertucci, Céline Besse, Elsa Besse-Pinot, D. Bessis, Pauline Beuvain, Stéphane Bézieau, Marie Bidart, Ivan Bièche, Margaux Biehler, Thierry Bienvenu, Frédéric Bilan

    Foilsithe / Cruthaithe 2025
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