Canlyniadau Chwilio - Claire Redin

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  1. 1
    XLID-Causing Mutations and Associated Genes Challenged in Light of Data From Large-Scale Human Exome Sequencing

    XLID-Causing Mutations and Associated Genes Challenged in Light of Data From Large-Scale Human Exome Sequencing gan Amélie Piton, Claire Redin, Jean‐Louis Mandel

    Cyhoeddwyd 2013
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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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  3. 3
    DPY19L2 Deletion as a Major Cause of Globozoospermia

    DPY19L2 Deletion as a Major Cause of Globozoospermia gan Isabelle Koscinski, Elias Elinati, Camille Fossard, Claire Redin, Jean Muller, J. Velez de la Calle, Françoise Schmitt, Mariem Ben Khelifa, Pierre F. Ray, Zaid Kilani, Christopher L. R. Barratt, Stéphane Viville

    Cyhoeddwyd 2011
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  4. 4
    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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  5. 5
    A Mitochondrial Pyruvate Carrier Required for Pyruvate Uptake in Yeast, <i>Drosophila</i> , and Humans

    A Mitochondrial Pyruvate Carrier Required for Pyruvate Uptake in Yeast, <i>Drosophila</i> , and Humans gan Daniel K. Bricker, Eric B. Taylor, John C. Schell, Thomas Orsak, Audrey Boutron, Yu-Chan Chen, James E. Cox, Caleb M. Cardon, Jonathan G. Van Vranken, Noah Dephoure, Claire Redin, Sihem Boudina, Steven P. Gygi, M. Brivet, Carl S. Thummel, Jared Rutter

    Cyhoeddwyd 2012
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  6. 6
    20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition

    20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition gan Amélie Piton, Hélène Poquet, Claire Redin, Alice Masurel, Julia Lauer, Jean Muller, Julien Thévenon, Yvan Herenger, Sophie Chancenotte, Marlène Bonnet, Jean‐Michel Pinoit, Frédéric Huet, Christel Thauvin‐Robinet, Anne-Sophie Jaeger, Stéphanie Le Gras, Bernard Jost, Bénédicte Gérard, Katell Peoc’h, Jean‐Marie Launay, Laurence Faivre, Jean‐Louis Mandel

    Cyhoeddwyd 2013
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  7. 7
    Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A

    Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A gan Lucas Bronicki, Claire Redin, Séverine Drunat, Amélie Piton, Michael J. Lyons, Sandrine Passemard, Clarisse Baumann, Laurence Faivre, Julien Thévenon, Jean‐Baptiste Rivière, Bertrand Isidor, Grace Gan, Christine Francannet, Marjolaine Willems, Murat Günel, Julie R. Jones, Joseph G. Gleeson, Jean‐Louis Mandel, Roger E. Stevenson, Michael J. Friez, Arthur S. Aylsworth

    Cyhoeddwyd 2015
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  8. 8
    Mutations in SDCCAG8/NPHP10 Cause Bardet-Biedl Syndrome and Are Associated with Penetrant Renal Disease and Absent Polydactyly

    Mutations in SDCCAG8/NPHP10 Cause Bardet-Biedl Syndrome and Are Associated with Penetrant Renal Disease and Absent Polydactyly gan Élise Schaefer, Ariane Zaloszyc, Julia Lauer, M. Durand, Fanny Stutzmann, Y. Perdomo-Trujillo, Claire Redin, V. Bennouna Greene, Annick Toutain, Laurence Perrin, Marion Gérard, Sophie Caillard, Xiaoshu Bei, Richard A. Lewis, D Christmann, J. Letsch, M. Kribs, Catherine Schmidt‐Mutter, Jean Muller, Corinne Stoetzel, Michel Fischbach, Vincent Marion, Nicholas Katsanis, Hélène Dollfus

    Cyhoeddwyd 2010
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  9. 9
    Globozoospermia is mainly due to DPY19L2 deletion via non-allelic homologous recombination involving two recombination hotspots

    Globozoospermia is mainly due to DPY19L2 deletion via non-allelic homologous recombination involving two recombination hotspots gan Elias Elinati, Paul Kuentz, Claire Redin, Sara Jaber, Frauke Vanden Meerschaut, Joelle Makarian, Isabelle Koscinski, Mohammad Hossein Nasr‐Esfahani, Aygül Demi̇rol, Timur Gürgan, Noureddine Louanjli, Naeem Iqbal, Mazen Bisharah, F Pigeon, Hamid Gourabi, Dominique De Briel, Florence Brugnon, Susan Gitlin, Jean-Marc Grillo, Kamran Ghaedi, Mohammad Reza Deemeh, Somayeh Tanhaei, Parastoo Modarres, Björn Heindryckx, Moncef Benkhalifa, Dimitra Nikiforaki, Sergio Oehninger, Petra De Sutter, Jean Muller, Stéphane Viville

    Cyhoeddwyd 2012
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  10. 10
    Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis

    Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis gan Zehra Ordulu, Tammy Kammin, Harrison Brand, Vamsee Pillalamarri, Claire Redin, Ryan L. Collins, Ian Blumenthal, Carrie Hanscom, Shahrin Pereira, India Bradley, Barbara F. Crandall, Pamela Gerrol, Mark A. Hayden, Naveed Hussain, Bibi Kanengisser‐Pines, Sibel Kantarci, Brynn Levy, Michael J. Macera, Fabiola Quintero‐Rivera, Erica Spiegel, Blair Stevens, Janet E. Ulm, Dorothy Warburton, Louise Wilkins‐Haug, Naomi Yachelevich, James F. Gusella, Michael E. Talkowski, Cynthia C. Morton

    Cyhoeddwyd 2016
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  11. 11
    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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  12. 12
    Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome

    Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome gan Ryan L. Collins, Harrison Brand, Claire Redin, Carrie Hanscom, Caroline Antolik, Matthew R. Stone, Joseph Glessner, Tamara Mason, Giulia Pregno, Naghmeh Dorrani, Giorgia Mandrile, Daniela Giachino, Danielle Perrin, Cole Walsh, Michelle Cipicchio, Maura Costello, Alexei Stortchevoi, Joon‐Yong An, Benjamin Currall, Catarina M. Seabra, Ashok Ragavendran, Lauren Margolin, Julián A. Martínez-Agosto, Diane Lucente, Brynn Levy, Stephan Sanders, Ronald J. Wapner, Fabiola Quintero‐Rivera, Wigard P. Kloosterman, Michael E. Talkowski

    Cyhoeddwyd 2017
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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 Global Effort to Define the Human Genetics of Protective Immunity to SARS-CoV-2 Infection

    A Global Effort to Define the Human Genetics of Protective Immunity to SARS-CoV-2 Infection gan Jean‐Laurent Casanova, Helen C. Su, Laurent Abel, Alessandro Aiuti, Saleh Al‐Muhsen, Andrés A. Arias, Paul Bastard, Catherine M. Biggs, Dusan Bogunovic, Bertrand Boisson, Stéphanie Boisson‐Dupuis, Alexandre Bolze, Анастасія Бондаренко, Aziz Bousfiha, Petter Brodin, Jacinta Bustamante, Manish J. Butte, Giorgio Casari, Michael J. Ciancanelli, Aurélie Cobat, Antônio Condino‐Neto, Megan A. Cooper, Clifton L. Dalgard, Sara Espinosa, Hagit Baris Feldman, Jacques Fellay, José Luis Franco, David Hagin, Yuval Itan, Emmanuelle Jouanguy, C. Lucas, Davood Mansouri, Isabelle Meyts, Joshua D. Milner, Trine H. Mogensen, Tomohiro Morio, Lisa F. P. Ng, Luigi D. Notarangelo, Satoshi Okada, Tayfun Özçelık, Pere Soler‐Palacín, Anna M. Planas, Carolina Prando, Anne Puel, Aurora Pujol, Claire Redin, Laurent Rénia, Carlos Rodríguez‐Gallego, Lluís Quintana‐Murci, Vanessa Sancho‐Shimizu, Vijay G. Sankaran, Mikko Seppänen, Mohammad Shahrooei, Andrew L. Snow, András N. Spaan, Stuart G. Tangye, Jordi Pérez‐Tur, Stuart E. Turvey, Donald C. Vinh, Horst von Bernuth, Xiaochuan Wang, Paweł Zawadzki, Qian Zhang, Shen‐Ying Zhang

    Cyhoeddwyd 2020
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  15. 15
    The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

    The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies gan Claire Redin, Harrison Brand, Ryan L. Collins, Tammy Kammin, Elyse Mitchell, Jennelle C. Hodge, Carrie Hanscom, Vamsee Pillalamarri, Catarina M. Seabra, Mary‐Alice Abbott, Omar Abdul‐Rahman, Erika Aberg, Rhett Adley, Sofía Lizeth Alcaráz‐Estrada, Fowzan S. Alkuraya, Yu An, MaryAnne Anderson, Caroline Antolik, Kwame Anyane‐Yeboa, Joan Atkin, Tina M. Bartell, Jonathan A. Bernstein, Elizabeth Beyer, Ian Blumenthal, Ernie M.H.F. Bongers, Eva H. Brilstra, Chester Brown, Hennie T. Brüggenwirth, Bert Callewaert, Colby Chiang, Ken Corning, Helen Cox, Edwin Cuppen, Benjamin Currall, Tom Cushing, D. David, Matthew A. Deardorff, Annelies Dheedene, Marc D’Hooghe, Bert B.A. de Vries, Dawn Earl, Heather Ferguson, Heather Fisher, David Fitzpatrick, Pamela Gerrol, Daniela Giachino, Joseph Glessner, Troy J. Gliem, Margo Grady, Brett H. Graham, Cristin Griffis, Karen W. Gripp, Andrea Gropman, Andrea Hanson‐Kahn, David J. Harris, Mark A. Hayden, R. Sean Hill, Ron Hochstenbach, Jodi D. Hoffman, Robert J. Hopkin, Monika Weisz Hubshman, A. Micheil Innes, Mira Irons, Melita Irving, Jessie C. Jacobsen, Sandra Janssens, Tamison Jewett, John P. Johnson, Marjolijn C.J. Jongmans, Stephen G. Kahler, David A. Koolen, Jerome Korzelius, Peter M. Kroisel, Yves Lacassie, William Lawless, Emmanuelle Lemyre, Kathleen A. Leppig, Alex V. Levin, Haibo Li, Hong Li, Eric C. Liao, Cynthia Lim, Edward J. Lose, Diane Lucente, Michael J. Macera, Poornima Manavalan, Giorgia Mandrile, Carlo Marcelis, Lauren Margolin, Tamara Mason, Diane Masser‐Frye, Michael McClellan, Cinthya J. Zepeda Mendoza, Björn Menten, Sjors Middelkamp, Liya Regina Mikami, Emily Moe, Shehla Mohammed, Tarja Mononen, Megan Mortenson

    Cyhoeddwyd 2016
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