Determinants of fatigue in patients with Marfan syndrome: a study using PROMS by Ines Cavalier, Leslie Toko Kamga, Laurence Morin, Laurence Bal, Laurence Faivre, Guillaume Jondeau, Viet-Thi Tran, Olivier Milleron

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Fetal sodium valproate exposure causes Baller-Gerold syndrome phenotype: both phenotypes in the same family by Ozmert M A Ozdemir, Ilknur Kiliç, Tamer Ozsari, B Alper Kiliç, Laurence Faivre, Bernard Aral, Dolunay Gürses, C Nur Semerci

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First Prenatal Case of Genotypically and Phenotypically Overlapping Double Molecular Diagnosis of Van den Ende–Gupta and 22q11.2 Deletion Syndromes by Caroline Racine, Aurore Garde, Olivia Martz, Hana Safraou, Vinciane Eluard, Thierry Rousseau, Nathalie Marle, Fara T. Harizay, Laurent Martin, Julien Maraval, Ange‐Line Bruel, Christophe Philippe, Christel Thauvin‐Robinet, Laurence Faivre

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MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone. by Chunmei Li, Victor L Jensen, Kwangjin Park, Julie Kennedy, Francesc R Garcia-Gonzalo, Marta Romani, Roberta De Mori, Ange-Line Bruel, Dominique Gaillard, Bérénice Doray, Estelle Lopez, Jean-Baptiste Rivière, Laurence Faivre, Christel Thauvin-Robinet, Jeremy F Reiter, Oliver E Blacque, Enza Maria Valente, Michel R Leroux

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Comparison of two genetic strategies for diagnostic work-up of hypertrophic cardiomyopathy: impact on the diagnosis of Fabry disease or transthyretin amyloidosis by Aurélien Palmyre, Fairouz Koraichi, Flavie Ader, Erwan Donal, Céline Bordet, Pascal de Groote, Laurence Faivre, Patricia Reant, Annick Toutain, Karine Nguyen, Bertrand Isidor, Anne-Claire Brehin, Lise Legrand, Estelle Gandjbakhch, Julie Proukhnitzky, Richard Isnard, Nicolas Mansencal, Jean-François Pruny, Jean-Pierre Rabes, Bruno Francou, Catherine Caillaud, Pascale Richard, Philippe Charron

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O48: International Consortium on Newborn Sequencing (ICoNS) consensus guidelines for gene selection in genomic newborn screening programs by Nina Gold, Julie Yeo, Derek Ansel, Mei Baker, Jorune Balciuniene, Jonathan Berg, François Boemer, Wendy Chung, Heidi Cope, David Eckstein, Nicolas Encina, Laurence Faivre, Alessandra Ferlini, Judit Garcia-Villoria, Michael Gelb, Jose Manuel Gonzalez De Aledo Castillo, Katie Golden-Grant, Thomas Minten, Richard Parad, Nidhi Shah, Zornitza Stark, Kristen Sund, Petros Tsipouras, Meekai To, Lilian Downie

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Oral phenotype in SATB2-associated syndrome: cross-sectional study of the French cohort by Nancy Vegas, Marlène Rio, Pauline Adnot, Véronique Soupre, Florence Petit, Jamal Ghoumid, Annick Toutain, Klaus Dieterich, Isabelle Marey, Brigitte Gilbert-Dussardier, Gwenaël Le Guyader, Christine Francannet, Elise Schaefer, Laurence Perrin, Mathilde Nizon, Claire Beneteau, David Genevieve, Marjolaine Willems, Laurence Faivre, Marianne Grimaldi, Judith Melki, Radka Stoeva, Audrey Putoux, Linda Pons, Karelle Benistan, Jeanne Amiel, Véronique Abadie

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Loss of function mutation in the palmitoyl-transferase HHAT leads to syndromic 46,XY disorder of sex development by impeding Hedgehog protein palmitoylation and signaling. by Patrick Callier, Pierre Calvel, Armine Matevossian, Periklis Makrythanasis, Pascal Bernard, Hiroshi Kurosaka, Anne Vannier, Christel Thauvin-Robinet, Christelle Borel, Séverine Mazaud-Guittot, Antoine Rolland, Christèle Desdoits-Lethimonier, Michel Guipponi, Céline Zimmermann, Isabelle Stévant, Françoise Kuhne, Béatrice Conne, Federico Santoni, Sandy Lambert, Frederic Huet, Francine Mugneret, Jadwiga Jaruzelska, Laurence Faivre, Dagmar Wilhelm, Bernard Jégou, Paul A Trainor, Marilyn D Resh, Stylianos E Antonarakis, Serge Nef

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A phase II double-blind multicentre, placebo-controlled trial to assess the efficacy and safety of alpelisib (BYL719) in paediatric and adult patients with Megalencephaly-CApillary... by Jean-Marc Treluyer, Benedicte Demeer, Laurence Faivre, Marc Bardou, Nathalie Boddaert, Paul Kuentz, Florence Petit, Christine Francannet, Pierre Vabres, Nadia Bahi-Buisson, Estelle Colin, Laurent Guibaud, Romaric Loffroy, Maxime Luu, Caroline Racine, Aurore Garde, Philippe Khau Van Kien, Aurore Curie, Nawale Hadouiri, Aurélie Espitalier, Agnès Maurer, Maud Carpentier, Adélaide Rega, Mouna Chebbi, Julie Charligny, Guillaume Canaud, Camille Fleck, Amelie Cransac, Elise Boucher-Brischoux, Adélaïde Brosseau-Beauvir, Florian Cherik, Alice Phan, Michaela Semeraro, Marion Nys, Charles Joris Roux, Alinoë Lavillaureix, Isabelle Maruani

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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

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