Hydrocephalus due to multiple ependymal malformations is caused by mutations in the MPDZ gene

by Pascale Saugier-Veber, Florent Marguet, François Lecoquierre, Homa Adle-Biassette, Fabien Guimiot, Sara Cipriani, Sophie Patrier, Marie Brasseur-Daudruy, Alice Goldenberg, Valérie Layet, Yline Capri, Marion Gérard, Thierry Frébourg, Annie Laquerrière
Published 2017-05-01

Germline bi-allelic <i>SH2B3/LNK</i> alteration predisposes to a neonatal juvenile myelomonocytic leukemia-like disorder

by Chloé Arfeuille, Yoann Vial, Margaux Cadenet, Aurélie Caye-Eude, Odile Fenneteau, Quentin Neven, Adeline A Bonnard, Simone Pizzi, Giovanna Carpentieri, Yline Capri, Katia Girardi, Lucia Pedace, Marina Macchiaiolo, Kamel Boudhar, Monia ben Khaled, Wadih Abou Chahla, Anne Lutun, Mony Fahd, Séverine Drunat, Elisabetta Flex, Jean-Hugues Dalle, Marion Strullu, Franco Locatelli, Marco Tartaglia, Hélène Cavé
Published 2023-11-01

Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation.

by Valentina Grampa, Marion Delous, Mohamad Zaidan, Gweltas Odye, Sophie Thomas, Nadia Elkhartoufi, Emilie Filhol, Olivier Niel, Flora Silbermann, Corinne Lebreton, Sophie Collardeau-Frachon, Isabelle Rouvet, Jean-Luc Alessandri, Louise Devisme, Anne Dieux-Coeslier, Marie-Pierre Cordier, Yline Capri, Suonavy Khung-Savatovsky, Sabine Sigaudy, Rémi Salomon, Corinne Antignac, Marie-Claire Gubler, Alexandre Benmerah, Fabiola Terzi, Tania Attié-Bitach, Cécile Jeanpierre, Sophie Saunier
Published 2016-03-01

Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism

by Hyung-Goo Kim, Jill A. Rosenfeld, Daryl A. Scott, Gerard Bénédicte, Jonathan D. Labonne, Jason Brown, Marianne McGuire, Sonal Mahida, Sakkubai Naidu, Jacqueline Gutierrez, Gaetan Lesca, Vincent des Portes, Ange-Line Bruel, Arthur Sorlin, Fan Xia, Yline Capri, Eric Muller, Dianalee McKnight, Erin Torti, Franz Rüschendorf, Oliver Hummel, Zeyaul Islam, Prasanna R. Kolatkar, Lawrence C. Layman, Duchwan Ryu, Il-Keun Kong, Suneeta Madan-Khetarpal, Cheol-Hee Kim
Published 2019-10-01

Mitchell–Riley Syndrome: Improving Clinical Outcomes and Searching for Functional Impact of RFX-6 Mutations

by Caroline de Gouveia Buff Passone, Caroline de Gouveia Buff Passone, Gaëlle Vermillac, Willem Staels, Willem Staels, Willem Staels, Alix Besancon, Dulanjalee Kariyawasam, Dulanjalee Kariyawasam, Cécile Godot, Cécile Lambe, Cécile Talbotec, Cécile Talbotec, Muriel Girard, Christophe Chardot, Laureline Berteloot, Taymme Hachem, Alexandre Lapillonne, Amélie Poidvin, Caroline Storey, Mathieu Neve, Cosmina Stan, Emmanuelle Dugelay, Anne-Laure Fauret-Amsellem, Yline Capri, Hélène Cavé, Marina Ybarra, Vikash Chandra, Vikash Chandra, Raphaël Scharfmann, Elise Bismuth, Michel Polak, Jean Claude Carel, Bénédicte Pigneur, Jacques Beltrand, Jacques Beltrand, Jacques Beltrand
Published 2022-06-01

Severe Phenotype in Patients with Large Deletions of <em>NF1</em>

by Laurence Pacot, Dominique Vidaud, Audrey Sabbagh, Ingrid Laurendeau, Audrey Briand-Suleau, Audrey Coustier, Théodora Maillard, Cécile Barbance, Fanny Morice-Picard, Sabine Sigaudy, Olga O. Glazunova, Lena Damaj, Valérie Layet, Chloé Quelin, Brigitte Gilbert-Dussardier, Frédérique Audic, Hélène Dollfus, Anne-Marie Guerrot, James Lespinasse, Sophie Julia, Marie-Christine Vantyghem, Magali Drouard, Marilyn Lackmy, Bruno Leheup, Yves Alembik, Alexia Lemaire, Patrick Nitschké, Florence Petit, Anne Dieux Coeslier, Eugénie Mutez, Alain Taieb, Mélanie Fradin, Yline Capri, Hala Nasser, Lyse Ruaud, Benjamin Dauriat, Sylvie Bourthoumieu, David Geneviève, Séverine Audebert-Bellanger, Mathilde Nizon, Radka Stoeva, Geoffroy Hickman, Gaël Nicolas, Juliette Mazereeuw-Hautier, Arnaud Jannic, Salah Ferkal, Béatrice Parfait, Michel Vidaud, members of the NF France Network, Pierre Wolkenstein, Eric Pasmant
Published 2021-06-01

Combining globally search for a regular expression and print matching lines with bibliographic monitoring of genomic database improves diagnosis

by Frédéric Tran Mau-Them, Frédéric Tran Mau-Them, Alexis Overs, Ange-Line Bruel, Ange-Line Bruel, Romain Duquet, Mylene Thareau, Anne-Sophie Denommé-Pichon, Anne-Sophie Denommé-Pichon, Antonio Vitobello, Antonio Vitobello, Arthur Sorlin, Arthur Sorlin, Hana Safraou, Hana Safraou, Sophie Nambot, Julian Delanne, Sebastien Moutton, Caroline Racine, Camille Engel, Melchior De Giraud d’Agay, Daphne Lehalle, Alice Goldenberg, Alice Goldenberg, Marjolaine Willems, Christine Coubes, David Genevieve, Alain Verloes, Alain Verloes, Yline Capri, Laurence Perrin, Marie-Line Jacquemont, Laetitia Lambert, Elodie Lacaze, Julien Thevenon, Nadine Hana, Nadine Hana, Julien Van-Gils, Charlotte Dubucs, Varoona Bizaoui, Marion Gerard-Blanluet, James Lespinasse, Sandra Mercier, Anne-Marie Guerrot, Anne-Marie Guerrot, Isabelle Maystadt, Emilie Tisserant, Laurence Faivre, Laurence Faivre, Christophe Philippe, Christophe Philippe, Yannis Duffourd, Yannis Duffourd, Christel Thauvin-Robinet, Christel Thauvin-Robinet, Christel Thauvin-Robinet
Published 2023-04-01