Canlyniadau Chwilio - Véronique Geoffroy

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  1. 1
    AnnotSV: an integrated tool for structural variations annotation

    AnnotSV: an integrated tool for structural variations annotation gan Véronique Geoffroy, Yvan Herenger, Arnaud Kress, Corinne Stoetzel, Amélie Piton, Hélène Dollfus, Jean Muller

    Cyhoeddwyd 2018
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    Artigo
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  2. 2
    VaRank: a simple and powerful tool for ranking genetic variants

    VaRank: a simple and powerful tool for ranking genetic variants gan Véronique Geoffroy, Cécile Pizot, Claire Redin, Amélie Piton, Nasim Vasli, Corinne Stoetzel, André Blavier, Jocelyn Laporte, Jean Muller

    Cyhoeddwyd 2015
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    Artigo
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  3. 3
    AnnotSV and knotAnnotSV: a web server for human structural variations annotations, ranking and analysis

    AnnotSV and knotAnnotSV: a web server for human structural variations annotations, ranking and analysis gan Véronique Geoffroy, Thomas Guignard, Arnaud Kress, Jean‐Baptiste Gaillard, Tor Solli-Nowlan, Audrey Schalk, Vincent Gâtinois, Hélène Dollfus, Sophie Scheidecker, Jean Muller

    Cyhoeddwyd 2021
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  4. 4
    Homozygosity Mapping and Candidate Prioritization Identify Mutations, Missed by Whole-Exome Sequencing, in SMOC2, Causing Major Dental Developmental Defects

    Homozygosity Mapping and Candidate Prioritization Identify Mutations, Missed by Whole-Exome Sequencing, in SMOC2, Causing Major Dental Developmental Defects gan Agnès Bloch‐Zupan, Xavier Jamet, Christelle Etard, Virginie Laugel, Jean Muller, Véronique Geoffroy, Jean-Pierre Strauss, Valérie Pelletier, Vincent Marion, Olivier Poch, Uwe Strähle, Corinne Stoetzel, Hélène Dollfus

    Cyhoeddwyd 2011
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  5. 5
    A mutation in VPS15 (PIK3R4) causes a ciliopathy and affects IFT20 release from the cis-Golgi

    A mutation in VPS15 (PIK3R4) causes a ciliopathy and affects IFT20 release from the cis-Golgi gan Corinne Stoetzel, Séverine Bär, Johan‐Owen De Craene, Sophie Scheidecker, Christelle Etard, Johana Chicher, Jennifer Reck, Isabelle Perrault, Véronique Geoffroy, Kirsley Chennen, Uwe Strähle, Philippe Hammann, Sylvie Friant, Hélène Dollfus

    Cyhoeddwyd 2016
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    Artigo
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  6. 6
    Exome sequencing of Bardet–Biedl syndrome patient identifies a null mutation in the BBSome subunit<i>BBIP1</i>(<i>BBS18</i>)

    Exome sequencing of Bardet–Biedl syndrome patient identifies a null mutation in the BBSome subunit<i>BBIP1</i>(<i>BBS18</i>) gan Sophie Scheidecker, Christelle Etard, Nathan W. Pierce, Véronique Geoffroy, Élise Schaefer, Jean Muller, Kirsley Chennen, Elisabeth Flori, Valérie Pelletier, Olivier Poch, Vincent Marion, Corinne Stoetzel, Uwe Strähle, Maxence V. Nachury, Hélène Dollfus

    Cyhoeddwyd 2013
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  7. 7
    Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström Syndromes

    Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström Syndromes gan Claire Redin, Stéphanie Le Gras, O. M'hamdi, Véronique Geoffroy, Corinne Stoetzel, Marie‐Claire Vincent, Pietro Chiurazzi, Didier Lacombe, Inès Ouertani, Florence Petit, Marianne Till, Alain Verloès, Bernard Jost, Habiba Chaâbouni, Hélène Dollfus, Jean‐Louis Mandel, Jean Muller

    Cyhoeddwyd 2012
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  8. 8
    Mutations in TUBGCP4 Alter Microtubule Organization via the γ-Tubulin Ring Complex in Autosomal-Recessive Microcephaly with Chorioretinopathy

    Mutations in TUBGCP4 Alter Microtubule Organization via the γ-Tubulin Ring Complex in Autosomal-Recessive Microcephaly with Chorioretinopathy gan Sophie Scheidecker, Christelle Etard, Laurence Haren, Corinne Stoetzel, Sarah Hull, Gavin Arno, Vincent Plagnol, Séverine Drunat, Sandrine Passemard, Annick Toutain, Cathy Obringer, M. Koob, Véronique Geoffroy, Vincent Marion, Uwe Strähle, Pia Østergaard, Alain Verloès, Andreas Merdes, Anthony T. Moore, Hélène Dollfus

    Cyhoeddwyd 2015
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  9. 9
    Proteasome subunit <i>PSMC3</i> variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress

    Proteasome subunit <i>PSMC3</i> variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress gan Ariane Kröll‐Hermi, Frédéric Ebstein, Corinne Stoetzel, Véronique Geoffroy, Élise Schaefer, Sophie Scheidecker, Séverine Bär, Masanari Takamiya, Koichi Kawakami, Barbara A. Zieba, Fouzia Studer, Valérie Pelletier, C. Eyermann, Claude Speeg‐Schatz, Vincent Laugel, Dan Lipsker, Florian Sandron, Steven McGinn, Anne Boland, Jean‐François Deleuze, Lauriane Kühn, Johana Chicher, Philippe Hammann, Sylvie Friant, Christelle Etard, Elke Krüger, Jean Muller, Uwe Strähle, Hélène Dollfus

    Cyhoeddwyd 2020
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  10. 10
    Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome

    Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome gan Angélique Quartier, Hélène Poquet, Brigitte Gilbert‐Dussardier, Massimiliano Rossi, Anne-Sophie Casteleyn, Vincent des Portes, Claire Feger, Elsa Nourisson, Paul Kuentz, Claire Redin, Julien Thévenon, Anne‐Laure Mosca‐Boidron, Patrick Callier, Jean Muller, Gaëtan Lesca, Frédéric Huet, Véronique Geoffroy, Salima El Chehadeh, Matthieu Jung, Benoît Trojak, Stéphanie Le Gras, Daphné Lehalle, Bernard Jost, Stéphanie Maury, Alice Masurel, Patrick Edery, Christel Thauvin-Robinet, Bénédicte Gérard, Jean‐Louis Mandel, Laurence Faivre, Amélie Piton

    Cyhoeddwyd 2017
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    Revisão
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  11. 11
    Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta

    Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta gan Mathilde Huckert, Corinne Stoetzel, Supawich Morkmued, Virginie Laugel-Haushalter, Véronique Geoffroy, Jean Muller, François Clauss, Megana Prasad, Frédéric Obry, Jean Louis Raymond, Marzena Switala, Yves Alembik, S. Soskin, Éric Mathieu, Joseph Hemmerlé, Jean‐Luc Weickert, Branka Dabovic, Daniel B. Rifkin, Annelies Dheedene, Eveline Boudin, Oana Caluseriu, Marie‐Claude Cholette, Ross McLeod, Reynaldo Antequera, Marie-Paule Gellé, Jean-Louis Coeuriot, L. F. Jacquelin, Isabelle Bailleul‐Forestier, Marie‐Cécile Manière, Wim Van Hul, Débora Romeo Bertola, Pascal Dollé, Alain Verloès, Geert Mortier, Hélène Dollfus, Agnès Bloch‐Zupan

    Cyhoeddwyd 2015
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  12. 12
    Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation

    Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation gan Chris Balak, Marianne Bénard, Élise Schaefer, Sumaiya Iqbal, Keri Ramsey, Michèle Ernoult‐Lange, Francesca Mattioli, Lorida Llaci, Véronique Geoffroy, Maïté Courel, Marcus Naymik, Kristine Bachman, Rolph Pfundt, Patrick Rump, Johanna ter Beest, Ingrid M. Wentzensen, Kristin G. Monaghan, Kirsty McWalter, Ryan Richholt, Antony Le Béchec, Wayne M. Jepsen, Matt De Both, Newell Belnap, Anne Boland, Ignazio S. Piras, Jean‐François Deleuze, Szabolcs Szelinger, Hélène Dollfus, Jamel Chelly, Jean Muller, Arthur J. Campbell, Dennis Lal, Sampathkumar Rangasamy, Jean‐Louis Mandel, Vinodh Narayanan, Matt Huentelman, Dominique Weil, Amélie Piton

    Cyhoeddwyd 2019
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  13. 13
    Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

    Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing gan Claire Redin, Bénédicte Gérard, Julia Lauer, Yvan Herenger, Jean Muller, Angélique Quartier, Alice Masurel‐Paulet, Marjolaine Willems, Gaëtan Lesca, Salima El-Chehadeh, Stéphanie Le Gras, Serge Vicaire, Muriel Philipps, Michaël Dumas, Véronique Geoffroy, Claire Feger, Nicolas Haumesser, Yves Alembik, Magalie Barth, Dominique Bonneau, Estelle Colin, Hélène Dollfus, Bérénice Doray, Marie‐Ange Delrue, Valérie Drouin‐Garraud, Elisabeth Flori, Mélanie Fradin, Christine Francannet, Alice Goldenberg, Serge Lumbroso, Michèle Mathieu‐Dramard, Dominique Martin–Coignard, Didier Lacombe, Gilles Morin, Anne Polge, Sylvie Sukno, Christel Thauvin‐Robinet, Julien Thévenon, Martine Doco‐Fenzy, David Geneviève, Pierre Sarda, Patrick Edery, Bertrand Isidor, Bernard Jost, Laurence Olivier-Faivre, Jean‐Louis Mandel, Amélie Piton

    Cyhoeddwyd 2014
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  14. 14
    A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement

    A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement gan Megana Prasad, Véronique Geoffroy, Serge Vicaire, Bernard Jost, Michaël Dumas, Stéphanie Le Gras, Marzena Switala, Barbara Gasse, Virginie Laugel-Haushalter, Marie Paschaki, Bruno Leheup, D Droz, Amelie Dalstein, Adeline Loing, Bruno Grollemund, Michèle Muller‐Bolla, Séréna Lopez-Cazaux, Maryline Minoux, Sophie Jung, Frédéric Obry, Vincent Vogt, Jean‐Luc Davideau, Tiphaine Davit‐Béal, Anne-Sophie Kaiser, Ute Moog, Béatrice Richard, Jean-Jacques Morrier, Jean‐Pierre Duprez, Sylvie Odent, Isabelle Bailleul‐Forestier, M. Rousset, Laure Merametdijan, Annick Toutain, Clara Joseph, Fabienne Giuliano, Jean-Christophe Dahlet, Aymeric Courval, Mustapha El Alloussi, Samir Laouina, S. Soskin, Nathalie Guffon, Anne Dieux, Bérénice Doray, Stephanie Feierabend, Emmanuelle Ginglinger, Benjamin Fournier, Muriel De La Dure‐Molla, Yves Alembik, C Tardieu, François Clauss, Ariane Berdal, Corinne Stoetzel, M.C. Manière, Hélène Dollfus, Agnès Bloch‐Zupan

    Cyhoeddwyd 2015
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