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Parental germline mosaicism in genome-wide phased de novo variants: Recurrence risk assessment and implications for precision genetic counselling. by François Lecoquierre, Nathalie Drouot, Sophie Coutant, Olivier Quenez, Steeve Fourneaux, Fanny Jumeau, Nathalie Rives, Françoise Charbonnier, Céline Derambure, Anne Boland, Robert Olaso, Vincent Meyer, Jean-François Deleuze, Alice Goldenberg, Anne-Marie Guerrot, Camille Charbonnier, Gaël Nicolas
Published 2025-03-01Get full text
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Expanding the phenotypic and genetic landscape of congenital neutropenia through whole‐exome and genome sequencing by Séverine Marti, Philippe Pellet, Blandine Beaupain, Léa Durix, Julien Buratti, Yves Réguerre, Nathalie Aladjidi, Saba Azarnoush, Severine Clauin, Wahid Abou Chahla, Gilles Blaison, Jeremy Bertand, Damien Bodet, Benoit Brethon, Jessica Chane‐Teng, Manon Delafoy, Chrystelle Dupraz, Virginie Gandemer, Philippe Denizeau, Alice Goldenberg, Pierre Hirsch, Anaïs l'Haridon, Aude Marie‐Cardine, Gabriella Vera, Brigitte Nelken, Laure Nizery, Marie Nolla, Marlène Pasquet, Jérémie Rosain, Louis Terriou, Isabelle Plo, Jean Donadieu, Christine Bellanné‐Chantelot
Published 2025-06-01Get full text
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Artificial intelligence-driven genotype–epigenotype–phenotype approaches to resolve challenges in syndrome diagnosticsResearch in context by Christopher C.Y. Mak, Hannah Klinkhammer, Sanaa Choufani, Nikola Reko, Angela K. Christman, Elise Pisan, Martin M.C. Chui, Mianne Lee, Fiona Leduc, Jennifer C. Dempsey, Pedro A. Sanchez-Lara, Hannah M. Bombei, John A. Bernat, Laurence Faivre, Frederic Tran Mau-Them, Irene Valenzuela Palafoll, Natalie Canham, Ajoy Sarkar, Yuri A. Zarate, Bert Callewaert, Ewelina Bukowska-Olech, Aleksander Jamsheer, Andreas Zankl, Marjolaine Willems, Laura Duncan, Bertrand Isidor, Benjamin Cogne, Odile Boute, Clémence Vanlerberghe, Alice Goldenberg, Elliot Stolerman, Karen J. Low, Vianney Gilard, Jeanne Amiel, Angela E. Lin, Christopher T. Gordon, Dan Doherty, Peter M. Krawitz, Rosanna Weksberg, Tzung-Chien Hsieh, Brian H.Y. Chung
Published 2025-05-01Get full text
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