Works matching AU Buratti, Julien

Results: 19
    1

    Expanding the phenotypic and genetic landscape of congenital neutropenia through whole‐exome and genome sequencing.

    Published in:
    HemaSphere, 2025, v. 9, n. 6, p. 1, doi. 10.1002/hem3.70150
    By:
    • Marti, Séverine;
    • Pellet, Philippe;
    • Beaupain, Blandine;
    • Durix, Léa;
    • Buratti, Julien;
    • Réguerre, Yves;
    • Aladjidi, Nathalie;
    • Azarnoush, Saba;
    • Clauin, Severine;
    • Chahla, Wahid Abou;
    • Blaison, Gilles;
    • Bertand, Jeremy;
    • Bodet, Damien;
    • Brethon, Benoit;
    • Chane‐Teng, Jessica;
    • Delafoy, Manon;
    • Dupraz, Chrystelle;
    • Gandemer, Virginie;
    • Denizeau, Philippe;
    • Goldenberg, Alice
    Publication type:
    Article
    2
    3

    Involvement of ADGRV1 Gene in Familial Forms of Genetic Generalized Epilepsy.

    Published in:
    Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.738272
    By:
    • Dahawi, Maha;
    • Elmagzoub, Mohamed S.;
    • A. Ahmed, Elhami;
    • Baldassari, Sara;
    • Achaz, Guillaume;
    • Elmugadam, Fatima A.;
    • Abdelgadir, Wasma A.;
    • Baulac, Stéphanie;
    • Buratti, Julien;
    • Abdalla, Omer;
    • Gamil, Sahar;
    • Alzubeir, Maha;
    • Abubaker, Rayan;
    • Noé, Eric;
    • Elsayed, Liena;
    • Ahmed, Ammar E.;
    • Leguern, Eric
    Publication type:
    Article
    4
    5

    Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder.

    Published in:
    Clinical Genetics, 2022, v. 102, n. 2, p. 98, doi. 10.1111/cge.14165
    By:
    • Christensen, Maria B.;
    • Levy, Amanda M.;
    • Mohammadi, Nazanin A.;
    • Niceta, Marcello;
    • Kaiyrzhanov, Rauan;
    • Dentici, Maria Lisa;
    • Al Alam, Chadi;
    • Alesi, Viola;
    • Benoit, Valérie;
    • Bhatia, Kailash P.;
    • Bierhals, Tatjana;
    • Boßelmann, Christian M.;
    • Buratti, Julien;
    • Callewaert, Bert;
    • Ceulemans, Berten;
    • Charles, Perrine;
    • De Wachter, Matthias;
    • Dehghani, Mohammadreza;
    • D'haenens, Erika;
    • Doco‐Fenzy, Martine
    Publication type:
    Article
    6
    7
    8

    SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation.

    Published in:
    Human Genomics, 2023, v. 17, n. 1, p. 1, doi. 10.1186/s40246-023-00451-1
    By:
    • de Sainte Agathe, Jean-Madeleine;
    • Filser, Mathilde;
    • Isidor, Bertrand;
    • Besnard, Thomas;
    • Gueguen, Paul;
    • Perrin, Aurélien;
    • Van Goethem, Charles;
    • Verebi, Camille;
    • Masingue, Marion;
    • Rendu, John;
    • Cossée, Mireille;
    • Bergougnoux, Anne;
    • Frobert, Laurent;
    • Buratti, Julien;
    • Lejeune, Élodie;
    • Le Guern, Éric;
    • Pasquier, Florence;
    • Clot, Fabienne;
    • Kalatzis, Vasiliki;
    • Roux, Anne-Françoise
    Publication type:
    Article
    9

    Both rare and common genetic variants contribute to autism in the Faroe Islands.

    Published in:
    NPJ Genomic Medicine, 2019, v. 4, n. 1, p. N.PAG, doi. 10.1038/s41525-018-0075-2
    By:
    • Leblond, Claire S;
    • Cliquet, Freddy;
    • Carton, Coralie;
    • Huguet, Guillaume;
    • Mathieu, Alexandre;
    • Kergrohen, Thomas;
    • Buratti, Julien;
    • Lemière, Nathalie;
    • Cuisset, Laurence;
    • Bienvenu, Thierry;
    • Boland, Anne;
    • Deleuze, Jean-François;
    • Stora, Tormodur;
    • Biskupstoe, Rannva;
    • Halling, Jónrit;
    • Andorsdóttir, Guðrið;
    • Billstedt, Eva;
    • Gillberg, Christopher;
    • Bourgeron, Thomas
    Publication type:
    Article
    10
    11

    Both rare and common genetic variants contribute to autism in the Faroe Islands.

    Published in:
    NPJ Genomic Medicine, 2019, v. 4, n. 1, p. N.PAG, doi. 10.1038/s41525-018-0075-2
    By:
    • Leblond, Claire S;
    • Cliquet, Freddy;
    • Carton, Coralie;
    • Huguet, Guillaume;
    • Mathieu, Alexandre;
    • Kergrohen, Thomas;
    • Buratti, Julien;
    • Lemière, Nathalie;
    • Cuisset, Laurence;
    • Bienvenu, Thierry;
    • Boland, Anne;
    • Deleuze, Jean-François;
    • Stora, Tormodur;
    • Biskupstoe, Rannva;
    • Halling, Jónrit;
    • Andorsdóttir, Guðrið;
    • Billstedt, Eva;
    • Gillberg, Christopher;
    • Bourgeron, Thomas
    Publication type:
    Article
    12

    A framework to identify contributing genes in patients with Phelan-McDermid syndrome.

    Published in:
    NPJ Genomic Medicine, 2017, v. 2, n. 1, p. N.PAG, doi. 10.1038/s41525-017-0035-2
    By:
    • Tabet, Anne-Claude;
    • Rolland, Thomas;
    • Ducloy, Marie;
    • Lévy, Jonathan;
    • Buratti, Julien;
    • Mathieu, Alexandre;
    • Haye, Damien;
    • Perrin, Laurence;
    • Dupont, Céline;
    • Passemard, Sandrine;
    • Capri, Yline;
    • Verloes, Alain;
    • Drunat, Séverine;
    • Keren, Boris;
    • Mignot, Cyril;
    • Marey, Isabelle;
    • Jacquette, Aurélia;
    • Whalen, Sandra;
    • Pipiras, Eva;
    • Benzacken, Brigitte
    Publication type:
    Article
    13

    A framework to identify contributing genes in patients with Phelan-McDermid syndrome.

    Published in:
    NPJ Genomic Medicine, 2017, v. 2, n. 1, p. N.PAG, doi. 10.1038/s41525-017-0035-2
    By:
    • Tabet, Anne-Claude;
    • Rolland, Thomas;
    • Ducloy, Marie;
    • Lévy, Jonathan;
    • Buratti, Julien;
    • Mathieu, Alexandre;
    • Haye, Damien;
    • Perrin, Laurence;
    • Dupont, Céline;
    • Passemard, Sandrine;
    • Capri, Yline;
    • Verloes, Alain;
    • Drunat, Séverine;
    • Keren, Boris;
    • Mignot, Cyril;
    • Marey, Isabelle;
    • Jacquette, Aurélia;
    • Whalen, Sandra;
    • Pipiras, Eva;
    • Benzacken, Brigitte
    Publication type:
    Article
    14

    Mutations and genomic islands can explain the strain dependency of sugar utilization in 21 strains of Propionibacterium freudenreichii.

    Published in:
    BMC Genomics, 2015, v. 16, n. 1, p. 296, doi. 10.1186/s12864-015-1467-7
    By:
    • Loux, Valentin;
    • Mariadassou, Mahendra;
    • Almeida, Sintia;
    • Chiapello, Hélène;
    • Hammani, Amal;
    • Buratti, Julien;
    • Gendrault, Annie;
    • Barbe, Valérie;
    • Aury, Jean-Marc;
    • Deutsch, Stéphanie-Marie;
    • Parayre, Sandrine;
    • Madec, Marie-Noëlle;
    • Chuat, Victoria;
    • Jan, Gwenaël;
    • Peterlongo, Pierre;
    • Azevedo, Vasco;
    • Le Loir, Yves;
    • Falentin, Hélène
    Publication type:
    Article
    15
    16

    Biallelic variants in ERLIN1: a series of 13 individuals with spastic paraparesis.

    Published in:
    Human Genetics, 2024, v. 143, n. 11, p. 1353, doi. 10.1007/s00439-024-02702-0
    By:
    • Cogan, Guillaume;
    • Zaki, Maha S.;
    • Issa, Mahmoud;
    • Keren, Boris;
    • Guillaud-Bataille, Marine;
    • Renaldo, Florence;
    • Isapof, Arnaud;
    • Lallemant, Pauline;
    • Stevanin, Giovanni;
    • Guillot-Noel, Lena;
    • Courtin, Thomas;
    • Buratti, Julien;
    • Freihuber, Cécile;
    • Gleeson, Joseph G.;
    • Howarth, Robyn;
    • Durr, Alexandra;
    • de Sainte Agathe, Jean-Madeleine;
    • Mignot, Cyril
    Publication type:
    Article
    17
    18

    Functional characterization of ABCC8 variants of unknown significance based on bioinformatics predictions, splicing assays, and protein analyses: Benefits for the accurate diagnosis of congenital hyperinsulinism.

    Published in:
    Human Mutation, 2021, v. 42, n. 4, p. 408, doi. 10.1002/humu.24164
    By:
    • Saint‐Martin, Cécile;
    • Cauchois‐Le Mière, Marine;
    • Rex, Emily;
    • Soukarieh, Omar;
    • Arnoux, Jean‐Baptiste;
    • Buratti, Julien;
    • Bouvet, Delphine;
    • Frébourg, Thierry;
    • Gaildrat, Pascaline;
    • Shyng, Show‐Ling;
    • Bellanné‐Chantelot, Christine;
    • Martins, Alexandra
    Publication type:
    Article
    19

    Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3.

    Published in:
    Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-12763-9
    By:
    • Florian, Rahel T.;
    • Kraft, Florian;
    • Leitão, Elsa;
    • Kaya, Sabine;
    • Klebe, Stephan;
    • Magnin, Eloi;
    • van Rootselaar, Anne-Fleur;
    • Buratti, Julien;
    • Kühnel, Theresa;
    • Schröder, Christopher;
    • Giesselmann, Sebastian;
    • Tschernoster, Nikolai;
    • Altmueller, Janine;
    • Lamiral, Anaide;
    • Keren, Boris;
    • Nava, Caroline;
    • Bouteiller, Delphine;
    • Forlani, Sylvie;
    • Jornea, Ludmila;
    • Kubica, Regina
    Publication type:
    Article