Search Results - Geoffroy, Véronique

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  1. 1
    VaRank: a simple and powerful tool for ranking genetic variants

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

    Published 2015
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  2. 2
    Identification and Characterization of Known Biallelic Mutations in the IFT27 (BBS19) Gene in a Novel Family With Bardet-Biedl Syndrome

    Identification and Characterization of Known Biallelic Mutations in the IFT27 (BBS19) Gene in a Novel Family With Bardet-Biedl Syndrome by Schaefer, Elise, Delvallée, Clarisse, Mary, Laura, Stoetzel, Corinne, Geoffroy, Véronique, Marks-Delesalle, Caroline, Holder-Espinasse, Muriel, Ghoumid, Jamal, Dollfus, Hélène, Muller, Jean

    Published 2019
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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 by Geoffroy, Véronique, Guignard, Thomas, Kress, Arnaud, Gaillard, Jean-Baptiste, Solli-Nowlan, Tor, Schalk, Audrey, Gatinois, Vincent, Dollfus, Hélène, Scheidecker, Sophie, Muller, Jean

    Published 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 by Bloch-Zupan, Agnès, Jamet, Xavier, Etard, Christelle, Laugel, Virginie, Muller, Jean, Geoffroy, Véronique, Strauss, Jean-Pierre, Pelletier, Valérie, Marion, Vincent, Poch, Olivier, Strahle, Uwe, Stoetzel, Corinne, Dollfus, Hélène

    Published 2011
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  5. 5
    Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning

    Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning by Laugel-Haushalter, Virginie, Morkmued, Supawich, Stoetzel, Corinne, Geoffroy, Véronique, Muller, Jean, Boland, Anne, Deleuze, Jean-François, Chennen, Kirsley, Pitiphat, Waranuch, Dollfus, Hélène, Niederreither, Karen, Bloch-Zupan, Agnès, Pungchanchaikul, Patimaporn

    Published 2018
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  6. 6
    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 by Stoetzel, Corinne, Bär, Séverine, De Craene, Johan-Owen, Scheidecker, Sophie, Etard, Christelle, Chicher, Johana, Reck, Jennifer R., Perrault, Isabelle, Geoffroy, Véronique, Chennen, Kirsley, Strähle, Uwe, Hammann, Philippe, Friant, Sylvie, Dollfus, Hélène

    Published 2016
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  7. 7
    A New SLC10A7 Homozygous Missense Mutation Responsible for a Milder Phenotype of Skeletal Dysplasia With Amelogenesis Imperfecta

    A New SLC10A7 Homozygous Missense Mutation Responsible for a Milder Phenotype of Skeletal Dysplasia With Amelogenesis Imperfecta by Laugel-Haushalter, Virginie, Bär, Séverine, Schaefer, Elise, Stoetzel, Corinne, Geoffroy, Véronique, Alembik, Yves, Kharouf, Naji, Huckert, Mathilde, Hamm, Pauline, Hemmerlé, Joseph, Manière, Marie-Cécile, Friant, Sylvie, Dollfus, Hélène, Bloch-Zupan, Agnès

    Published 2019
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  8. 8
    Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18)

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

    Published 2013
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  9. 9
    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 by Redin, Claire, Le Gras, Stéphanie, Mhamdi, Oussema, Geoffroy, Véronique, Stoetzel, Corinne, Vincent, Marie-Claire, Chiurazzi, Pietro, Lacombe, Didier, Ouertani, Ines, Petit, Florence, Till, Marianne, Verloes, Alain, Jost, Bernard, Chaabouni, Habiba Bouhamed, Dollfus, Helene, Mandel, Jean-Louis, Muller, Jean

    Published 2012
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  10. 10
    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 by Scheidecker, Sophie, Etard, Christelle, Haren, Laurence, Stoetzel, Corinne, Hull, Sarah, Arno, Gavin, Plagnol, Vincent, Drunat, Séverine, Passemard, Sandrine, Toutain, Annick, Obringer, Cathy, Koob, Mériam, Geoffroy, Véronique, Marion, Vincent, Strähle, Uwe, Ostergaard, Pia, Verloes, Alain, Merdes, Andreas, Moore, Anthony T., Dollfus, Hélène

    Published 2015
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  11. 11
    Detection of a Novel DSPP Mutation by NGS in a Population Isolate in Madagascar

    Detection of a Novel DSPP Mutation by NGS in a Population Isolate in Madagascar by Bloch-Zupan, Agnès, Huckert, Mathilde, Stoetzel, Corinne, Meyer, Julia, Geoffroy, Véronique, Razafindrakoto, Rabisoa W., Ralison, Saholy N., Randrianaivo, Jean-Claude, Ralison, Georgette, Andriamasinoro, Rija O., Ramanampamaharana, Rija H., Randrianazary, Solofomanantsoa E., Ralimanana, Louise H., Richard, Béatrice, Gorry, Philippe, Manière, Marie-Cécile, Rasoamananjara, Jeanne A., Rakoto Alson, Simone, Dollfus, Hélène

    Published 2016
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  12. 12
    Corrigendum: Detection of a Novel DSPP Mutation by NGS in a Population Isolate in Madagascar

    Corrigendum: Detection of a Novel DSPP Mutation by NGS in a Population Isolate in Madagascar by Bloch-Zupan, Agnès, Huckert, Mathilde, Stoetzel, Corinne, Meyer, Julia, Geoffroy, Véronique, Razafindrakoto, Rabisoa W., Ralison, Saholy N., Randrianaivo, Jean-Claude, Ralison, Georgette, Andriamasinoro, Rija O., Ramanampamaharana, Rija H., Randrianazary, Solofomanantsoa E., Ralimanana, Louise H., Richard, Béatrice, Gorry, Philippe, Manière, Marie-Cécile, Rasoamananjara, Jeanne A., Rakoto Alson, Simone, Dollfus, Hélène

    Published 2016
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  13. 13
    Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress

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

    Published 2020
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  14. 14
    A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome

    A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome by Delvallée, Clarisse, Nicaise, Samuel, Antin, Manuela, Leuvrey, Anne-Sophie, Nourisson, Elsa, Leitch, Carmen C., Kellaris, Georgios, Stoetzel, Corinne, Geoffroy, Véronique, Scheidecker, Sophie, Keren, Boris, Depienne, Christel, Klar, Joakim, Dahl, Niklas, Deleuze, Jean-François, Génin, Emmanuelle, Redon, Richard, Demurger, Florence, Devriendt, Koenraad, Mathieu-Dramard, Michèle, Poitou-Bernert, Christine, Odent, Sylvie, Katsanis, Nicholas, Mandel, Jean-Louis, Davis, Erica E., Dollfus, Hélène, Muller, Jean

    Published 2020
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  15. 15
    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 by Quartier, Angélique, Poquet, Hélène, Gilbert-Dussardier, Brigitte, Rossi, Massimiliano, Casteleyn, Anne-Sophie, Portes, Vincent des, Feger, Claire, Nourisson, Elsa, Kuentz, Paul, Redin, Claire, Thevenon, Julien, Mosca-Boidron, Anne-Laure, Callier, Patrick, Muller, Jean, Lesca, Gaetan, Huet, Frédéric, Geoffroy, Véronique, El Chehadeh, Salima, Jung, Matthieu, Trojak, Benoit, Le Gras, Stéphanie, Lehalle, Daphné, Jost, Bernard, Maury, Stéphanie, Masurel, Alice, Edery, Patrick, Thauvin-Robinet, Christel, Gérard, Bénédicte, Mandel, Jean-Louis, Faivre, Laurence, Piton, Amélie

    Published 2017
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  16. 16
    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 by Huckert, Mathilde, Stoetzel, Corinne, Morkmued, Supawich, Laugel-Haushalter, Virginie, Geoffroy, Véronique, Muller, Jean, Clauss, François, Prasad, Megana K., Obry, Frédéric, Raymond, Jean Louis, Switala, Marzena, Alembik, Yves, Soskin, Sylvie, Mathieu, Eric, Hemmerlé, Joseph, Weickert, Jean-Luc, Dabovic, Branka Brukner, Rifkin, Daniel B., Dheedene, Annelies, Boudin, Eveline, Caluseriu, Oana, Cholette, Marie-Claude, Mcleod, Ross, Antequera, Reynaldo, Gellé, Marie-Paule, Coeuriot, Jean-Louis, Jacquelin, Louis-Frédéric, Bailleul-Forestier, Isabelle, Manière, Marie-Cécile, Van Hul, Wim, Bertola, Debora, Dollé, Pascal, Verloes, Alain, Mortier, Geert, Dollfus, Hélène, Bloch-Zupan, Agnès

    Published 2015
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  17. 17
    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 by Balak, Chris, Benard, Marianne, Schaefer, Elise, Iqbal, Sumaiya, Ramsey, Keri, Ernoult-Lange, Michèle, Mattioli, Francesca, Llaci, Lorida, Geoffroy, Véronique, Courel, Maité, Naymik, Marcus, Bachman, Kristine K., Pfundt, Rolph, Rump, Patrick, ter Beest, Johanna, Wentzensen, Ingrid M., Monaghan, Kristin G., McWalter, Kirsty, Richholt, Ryan, Le Béchec, Antony, Jepsen, Wayne, De Both, Matt, Belnap, Newell, Boland, Anne, Piras, Ignazio S., Deleuze, Jean-François, Szelinger, Szabolcs, Dollfus, Hélène, Chelly, Jamel, Muller, Jean, Campbell, Arthur, Lal, Dennis, Rangasamy, Sampathkumar, Mandel, Jean-Louis, Narayanan, Vinodh, Huentelman, Matt, Weil, Dominique, Piton, Amélie

    Published 2019
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  18. 18
    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 by Redin, Claire, Gérard, Bénédicte, Lauer, Julia, Herenger, Yvan, Muller, Jean, Quartier, Angélique, Masurel-Paulet, Alice, Willems, Marjolaine, Lesca, Gaétan, El-Chehadeh, Salima, Le Gras, Stéphanie, Vicaire, Serge, Philipps, Muriel, Dumas, Michaël, Geoffroy, Véronique, Feger, Claire, Haumesser, Nicolas, Alembik, Yves, Barth, Magalie, Bonneau, Dominique, Colin, Estelle, Dollfus, Hélène, Doray, Bérénice, Delrue, Marie-Ange, Drouin-Garraud, Valérie, Flori, Elisabeth, Fradin, Mélanie, Francannet, Christine, Goldenberg, Alice, Lumbroso, Serge, Mathieu-Dramard, Michèle, Martin-Coignard, Dominique, Lacombe, Didier, Morin, Gilles, Polge, Anne, Sukno, Sylvie, Thauvin-Robinet, Christel, Thevenon, Julien, Doco-Fenzy, Martine, Genevieve, David, Sarda, Pierre, Edery, Patrick, Isidor, Bertrand, Jost, Bernard, Olivier-Faivre, Laurence, Mandel, Jean-Louis, Piton, Amélie

    Published 2014
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