Works by Vial, Yoann

Results: 14
    1

    Digenic inheritance of human primary microcephaly delineates centrosomal and non‐centrosomal pathways.

    Published in:
    Human Mutation, 2020, v. 41, n. 2, p. 512, doi. 10.1002/humu.23948
    By:
    • Duerinckx, Sarah;
    • Jacquemin, Valérie;
    • Drunat, Séverine;
    • Vial, Yoann;
    • Passemard, Sandrine;
    • Perazzolo, Camille;
    • Massart, Annick;
    • Soblet, Julie;
    • Racapé, Judith;
    • Desmyter, Laurence;
    • Badoer, Cindy;
    • Papadimitriou, Sofia;
    • Le Borgne, Yann‐Aël;
    • Lefort, Anne;
    • Libert, Frédérick;
    • De Maertelaer, Viviane;
    • Rooman, Marianne;
    • Costagliola, Sabine;
    • Verloes, Alain;
    • Lenaerts, Tom
    Publication type:
    Article
    2

    Autosomal recessive primary microcephaly due to <italic>ASPM</italic> mutations: An update.

    Published in:
    Human Mutation, 2018, v. 39, n. 3, p. 319, doi. 10.1002/humu.23381
    By:
    • Létard, Pascaline;
    • Drunat, Séverine;
    • Vial, Yoann;
    • Duerinckx, Sarah;
    • Ernault, Anais;
    • Amram, Daniel;
    • Arpin, Stéphanie;
    • Bertoli, Marta;
    • Busa, Tiffany;
    • Ceulemans, Berten;
    • Desir, Julie;
    • Doco‐Fenzy, Martine;
    • Elalaoui, Siham Chafai;
    • Devriendt, Koenraad;
    • Faivre, Laurence;
    • Francannet, Christine;
    • Geneviève, David;
    • Gérard, Marion;
    • Gitiaux, Cyril;
    • Julia, Sophie
    Publication type:
    Article
    3
    4

    Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndrome.

    Published in:
    Human Molecular Genetics, 2022, v. 31, n. 16, p. 2766, doi. 10.1093/hmg/ddac071
    By:
    • Motta, Marialetizia;
    • Solman, Maja;
    • Bonnard, Adeline A;
    • Kuechler, Alma;
    • Pantaleoni, Francesca;
    • Priolo, Manuela;
    • Chandramouli, Balasubramanian;
    • Coppola, Simona;
    • Pizzi, Simone;
    • Zara, Erika;
    • Ferilli, Marco;
    • Kayserili, Hülya;
    • Onesimo, Roberta;
    • Leoni, Chiara;
    • Brinkmann, Julia;
    • Vial, Yoann;
    • Kamphausen, Susanne B;
    • Thomas-Teinturier, Cécile;
    • Guimier, Anne;
    • Cordeddu, Viviana
    Publication type:
    Article
    5
    6
    7
    8
    9

    Long-term Metabolic and Socioeducational Outcomes of Transient Neonatal Diabetes: A Longitudinal and Cross-sectional Study.

    Published in:
    2020
    By:
    • Le Bourgeois, Fleur;
    • Beltrand, Jacques;
    • Baz, Baz;
    • Julla, Jean-Baptiste;
    • Riveline, Jean-Pierre;
    • Simon, Albane;
    • Flechtner, Isabelle;
    • Djoudi, Malek Ait;
    • Fauret-Amsellem, Anne-Laure;
    • Vial, Yoann;
    • Scharfmann, Raphael;
    • Sommet, Julie;
    • Boudou, Philippe;
    • Cavé, Hélène;
    • Polak, Michel;
    • Gautier, Jean-François;
    • Busiah, Kanetee;
    • Ait Djoudi, Malek;
    • TNDM Long-Term Follow-Up Study Group
    Publication type:
    journal article
    10
    11

    Cherubism as a systemic skeletal disease: evidence from an aggressive case.

    Published in:
    2020
    By:
    • Morice, Anne;
    • Joly, Aline;
    • Ricquebourg, Manon;
    • Maruani, Gérard;
    • Durand, Emmanuel;
    • Galmiche, Louise;
    • Amiel, Jeanne;
    • Vial, Yoann;
    • Cavé, Hélène;
    • Belhous, Kahina;
    • Piketty, Marie;
    • Cohen-Solal, Martine;
    • Berdal, Ariane;
    • Collet, Corinne;
    • Picard, Arnaud;
    • Coudert, Amelie E.;
    • Kadlub, Natacha
    Publication type:
    journal article
    12

    Retrotransposon insertion as a novel mutational cause of spinal muscular atrophy.

    Published in:
    Human Genetics, 2023, v. 142, n. 1, p. 125, doi. 10.1007/s00439-022-02473-6
    By:
    • Vezain, Myriam;
    • Thauvin-Robinet, Christel;
    • Vial, Yoann;
    • Coutant, Sophie;
    • Drunat, Séverine;
    • Urtizberea, Jon Andoni;
    • Rolland, Anne;
    • Jacquin-Piques, Agnès;
    • Fehrenbach, Séverine;
    • Nicolas, Gaël;
    • Lecoquierre, François;
    • Saugier-Veber, Pascale
    Publication type:
    Article
    13

    First clinical description of a pedigree with complete NAF1 deletion.

    Published in:
    Leukemia & Lymphoma, 2023, v. 64, n. 2, p. 487, doi. 10.1080/10428194.2022.2148377
    By:
    • Galtier, Jean;
    • Dimicoli-Salazar, Sophie;
    • Trimouille, Aurélien;
    • Lainey, Elodie;
    • Revy, Patrick;
    • Bidet, Audrey;
    • Vial, Yoann;
    • Forcade, Edouard;
    • Negrier-Leibreich, Marie-Laure;
    • Rivière, Etienne;
    • Tinat, Julie;
    • Le Meur, Nathalie;
    • Ménard, Christelle;
    • Pigneux, Arnaud;
    • Leguay, Thibaut;
    • Dumas, Pierre-Yves;
    • Ibrahima, Ba;
    • Kannengiesser, Caroline
    Publication type:
    Article
    14

    Expanding the phenotype of GTF2E2‐associated trichothiodystrophy.

    Published in:
    Journal of the European Academy of Dermatology & Venereology, 2024, v. 38, n. 3, p. e222, doi. 10.1111/jdv.19545
    By:
    • Sperelakis‐Beedham, Brian;
    • Ruaud, Lyse;
    • Vial, Yoann;
    • Rachid, Myriam;
    • Ageorges, Faustine;
    • Goujon, Louise;
    • Verloes, Alain;
    • Tabet, Anne‐Claude;
    • Bourrat, Emmanuelle;
    • Lévy, Jonathan
    Publication type:
    Article