Found: 17

Select item for more details and to access through your institution.

  • 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

  • Lactobacillus delbrueckii ssp. lactis and ssp. bulgaricus: a chronicle of evolution in action.

    Published in:
    BMC Genomics, 2014, v. 15, n. 1, p. 1, doi. 10.1186/1471-2164-15-407
    By:
    • El Kafsi, Hela;
    • Binesse, Johan;
    • Loux, Valentin;
    • Buratti, Julien;
    • Boudebbouze, Samira;
    • Dervyn, Rozenn;
    • Kennedy, Sean;
    • Galleron, Nathalie;
    • Quinquis, Benoît;
    • Batto, Jean-Michel;
    • Moumen, Bouziane;
    • Maguin, Emmanuelle;
    • van de Guchte, Maarten
    Publication type:
    Article

  • 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

  • Permanent draft genome sequence of the probiotic strain Propionibacterium freudenreichii CIRM-BIA 129 (ITG P20).

    Published in:
    Standards in Genomic Sciences, 2016, v. 11, n. 1, p. 1, doi. 10.1186/s40793-015-0120-z
    By:
    • Falentin, Hélène;
    • Deutsch, Stéphanie-Marie;
    • Loux, Valentin;
    • Hammani, Amal;
    • Buratti, Julien;
    • Parayre, Sandrine;
    • Chuat, Victoria;
    • Barbe, Valérie;
    • Aury, Jean-Marc;
    • Jan, Gwenaël;
    • Le Loir, Yves
    Publication type:
    Article

  • Novel GABRA2 variants in epileptic encephalopathy and intellectual disability with seizures.

    Published in:
    2019
    By:
    • Maljevic, Snezana;
    • Keren, Boris;
    • Aung, Ye Htet;
    • Forster, Ian C;
    • Mignot, Cyril;
    • Buratti, Julien;
    • Lafitte, Aurélie;
    • Freihuber, Cécile;
    • Rodan, Lance H;
    • Bergin, Ann;
    • Hubert, Laurence;
    • Poirier, Karine;
    • Munnich, Arnold;
    • Besmond, Claude;
    • Hauser, Natalie;
    • Miller, Rebecca;
    • McWalter, Kirsty;
    • Nabbout, Rima;
    • Héron, Delphine;
    • Leguern, Eric
    Publication type:
    letter

  • Deep Characterization of a Greek Patient with Desmin-Related Myofibrillar Myopathy and Cardiomyopathy.

    Published in:
    International Journal of Molecular Sciences, 2023, v. 24, n. 13, p. 11181, doi. 10.3390/ijms241311181
    By:
    • Papadopoulos, Constantinos;
    • Malfatti, Edoardo;
    • Métay, Corinne;
    • Keren, Boris;
    • Lejeune, Elodie;
    • Buratti, Julien;
    • Xirou, Sophia;
    • Chrysanthou-Piterou, Margarita;
    • Papadimas, George K.
    Publication type:
    Article

  • 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

  • New evidence that biallelic loss of function in EEF1B2 gene leads to intellectual disability.

    Published in:
    Clinical Genetics, 2020, v. 97, n. 4, p. 639, doi. 10.1111/cge.13688
    By:
    • Larcher, Lise;
    • Buratti, Julien;
    • Héron‐Longe, Bénédicte;
    • Benzacken, Brigitte;
    • Pipiras, Eva;
    • Keren, Boris;
    • Delahaye‐Duriez, Andrée
    Publication type:
    Article

  • 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

  • RNF170‐Related Hereditary Spastic Paraplegia: Confirmation by a Novel Mutation.

    Published in:
    Movement Disorders, 2021, v. 36, n. 3, p. 771, doi. 10.1002/mds.28371
    By:
    • Sainte Agathe, Jean‐Madeleine;
    • Mercier, Sandra;
    • Mahé, Jean‐Yves;
    • Péréon, Yann;
    • Buratti, Julien;
    • Tissier, Laurène;
    • Kol, Bophara;
    • Said, Samia Ait;
    • Leguern, Éric;
    • Banneau, Guillaume;
    • Stévanin, Giovanni
    Publication type:
    Article

  • 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

  • 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

  • Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome.

    Published in:
    2019
    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:
    Correction Notice

  • 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

  • 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

  • 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

  • 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