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Julien Buratti

ORCID

Publication Activity (10 Years)

Years Active: 2019-2023
Publications (10 Years): 11

Top Venues

Nature communications

European journal of human genetics : EJHG

Journal of medical genetics

Human mutation

Hôpital Universitaire Pitié Salpêtrière

Université de Bordeaux (MSC)

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Hôpital Universitaire Pitié Salpêtrière Nov 2o 2015

France

Bioinformatician :: Genetics

Education History

Université de Bordeaux Sep 15o 2007 - Sep 15o 2009

France

MSC :: Bioinformatics

Publications

Mio Aerden, Anne Sophie Denommé-Pichon, Dominique Bonneau, Ange-Line Bruel, Julian Delanne, Bénédicte Gérard, Benoit Mazel, Christophe Philippe, Lucile Pinson, Clément Prouteau, Audrey Putoux, Frederic Tran Mau-Them, Eleonore Viora-Dupont, Antonio Vitobello, Alban Ziegler, Amelie Piton, Bertrand Isidor, Christine Francannet, Pierre-Yves Maillard, Sophie Julia, Anais Philippe, Elise Schaefer, Saskia Koene, Claudia Ruivenkamp, Mariette J V Hoffer, Eric Legius, Miel Theunis, Boris Keren, Julien Buratti, Perrine Charles, Thomas Courtin, Mala Misra-Isrie, Mieke M van Haelst, Quinten Waisfisz, Dagmar Wieczorek, Ariane Schmetz, Theresia Herget, Fanny Kortüm, Jasmin Lisfeld, François-Guillaume Debray, Nuria C Bramswig, Isis Atallah, Heidi Fodstad, Guillaume Jouret, Berta Almoguera, Saoud Tahsin Swafiri, Fernando Santos-Simarro, Maria Palomares-Bralo, Vanesa López-González, Maria Kibaek, Pernille M Tørring, Alessandra Renieri, Lucia Pia Bruno, Katrin Õunap, Monica Wojcik, Tzung-Chien Hsieh, Peter Krawitz, Hilde Van Esch
The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant. European journal of human genetics : EJHG (2023)
Mathieu Georget, Elodie Lejeune, Julien Buratti, Euphrasie Servant, Eric le Guern, Delphine Heron, Boris Keren, Jean-Madeleine de Sainte Agathe
Loss of function of ADNP by an intragenic inversion. European journal of human genetics : EJHG (2023)
Maria Bejerholm Christensen, Amanda M Levy, Nazanin A Mohammadi, Marcello Niceta, Rauan Kaiyrzhanov, Maria Lisa Dentici, Chadi Al Alam, Viola Alesi, Valérie Benoit, Kailash P Bhatia, Tatjana Bierhals, Christian Malte Boßelmann, Julien Buratti, Bert Callewaert, Berten Ceulemans, Perrine Charles, Matthias De Wachter, Mohammadreza Dehghani, Erika D'haenens, Martine Doco-Fenzy, Michaela Geßner, Cyrielle Gobert, Ulviyya Guliyeva, Tobias B Haack, Trine B Hammer, Tilman Heinrich, Maja Hempel, Theresia Herget, Ute Hoffmann, Judit Horvath, Henry Houlden, Boris Keren, Christina Kresge, Candy Kumps, Damien Lederer, Alban Lermine, Francesca Magrinelli, Reza Maroofian, Mohammad Yahya Vahidi Mehrjardi, Mahdiyeh Moudi, Amelie J Müller, Anna J Oostra, Beth A Pletcher, David Ros-Pardo, Shanika R Samarasekera, Tartaglia Marco, Kristof Van Schil, Julie Vogt, Evangeline Wassmer, Juliane Winkelmann, Maha Saad Zaki, Michael Zech, Holger Lerche, Francesca Clementina Radio, Paulino Gómez-Puertas, Rikke Steensjerre Moller, Zeynep Tümer
Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder. Clinical genetics 102 (2) (2022)
Elsa Leitão, Christopher Schröder, Ilaria Parenti, Carine Dalle, Agnès Rastetter, Theresa Kühnel, Alma Kuechler, Sabine Kaya, Bénédicte Gérard, Elise Schaefer, Caroline Nava, Nathalie Drouot, Camille Engel, Juliette Piard, Bénédicte Duban-Bedu, Laurent Villard, Alexander P A Stegmann, Els K Vanhoutte, Job A J Verdonschot, Frank J Kaiser, Frederic Tran Mau-Them, Marcello Scala, Pasquale Striano, Suzanna G M Frints, Emanuela Argilli, Elliott H Sherr, Fikret Elder, Julien Buratti, Boris Keren, Cyril Mignot, Delphine Héron, Jean-Louis Mandel, Jozef Gecz, Vera M Kalscheuer, Bernhard Horsthemke, Amelie Piton, Christel Depienne
Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X. Nature communications 13 (1) (2022)
Cécile Saint-Martin, Marine Cauchois-Le Mière, Emily Rex, Omar Soukarieh, Jean-Baptiste Arnoux, Julien Buratti, Delphine Bouvet, Thierry Frébourg, Pascaline Gaildrat, Show-Ling Shyng, Christine Bellanné-Chantelot, Alexandra Martins
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. Human mutation 42 (4) (2021)
Marion Aubert-Mucca, Olivier Patat, Sandra Whalen, Lionel Arnaud, Giulia Barcia, Julien Buratti, Benjamin Cogné, Diane Doummar, Caroline Karsenty, Sandra Kenis, Eric Leguern, Gaëtan Lesca, Caroline Nava, Mathilde Nizon, Amelie Piton, Stéphanie Valence, Laurent Villard, Sarah Weckhuysen, Boris Keren, Cyril Mignot
Patients with KCNH1-related intellectual disability without distinctive features of Zimmermann-Laband/Temple-Baraitser syndrome. Journal of medical genetics (2021)
Julien Buratti, Lei Ji, Boris Keren, Youngha Lee, Stephanie Booke, Serkan Erdin, Soo Yeon Kim, Timothy Blake Palculict, Vardiella Meiner, Jong Hee Chae, Christopher Geoffrey Woods, Allison Tam, Delphine Héron, Feng Cong, Tamar Harel
De novo variants in SIAH1, encoding an E3 ubiquitin ligase, are associated with developmental delay, hypotonia and dysmorphic features. Journal of medical genetics 58 (3) (2020)
Sheng Chih Jin, Sara A Lewis, Somayeh Bakhtiari, Xue Zeng, Michael C Sierant, Sheetal Shetty, Sandra M Nordlie, Aureliane Elie, Mark A Corbett, Bethany Y Norton, Clare L van Eyk, Shozeb M Haider, Brandon S Guida, Helen Magee, James Liu, Stephen Pastore, John B Vincent, Janice Brunstrom-Hernandez, Antigone S Papavasiliou, Michael C Fahey, Jesia G Berry, Kelly Harper, Chongchen Zhou, Junhui Zhang, Boyang Li, Hongyu Zhao, Jennifer Heim, Dani L Webber, Mahalia S B Frank, Lei Xia, Yiran Xu, Dengna Zhu, Bohao Zhang, Amar H Sheth, James R Knight, Christopher Castaldi, Irina R Tikhonova, Francesc Lopez, Boris Keren, Sandra Whalen, Julien Buratti, Diane Doummar, Megan Cho, Kyle Retterer, Francisca Millan, Yangong Wang, Jeff L Waugh, Lance Rodan, Julie S Cohen, Ali Fatemi, Angela E Lin, John P Phillips, Timothy Feyma, Suzanna C MacLennan, Spencer W Vaughan, Kylie E Crompton, Susan M Reid, Dinah S Reddihough, Qing Shang, Chao Gao, Iona Novak, Nadia Badawi, Yana A Wilson, Sarah J McIntyre, Shrikant M Mane, Xiaoyang Wang, David J Amor, Daniela C Zarnescu, Qiongshi Lu, Qinghe Xing, Changlian Zhu, Kaya Bilguvar, Sergio Padilla-Lopez, Richard P Lifton, Jozef Gecz, Alastair H MacLennan, Michael C Kruer
Mutations disrupting neuritogenesis genes confer risk for cerebral palsy. Nature genetics 52 (10) (2020)
Roxane Bunod, Diane Doummar, Sandra Whalen, Boris Keren, Sandra Chantot-Bastaraud, Kim Maincent, Marie-Charlotte Villy, Michèle Mayer, Diana Rodriguez, Lydie Burglen, Pierre-Louis Léger, François Kieffer, Isabelle Martin, Delphine Héron, Julien Buratti, Arnaud Isapof, Alexandra Afenjar, Thierry Billette de Villemeur, Cyril Mignot
Congenital immobility and stiffness related to biallelic ATAD1 variants. Neurology. Genetics 6 (6) (2020)
Rahel T Florian, Florian Kraft, Elsa Leitão, Sabine Kaya, Stephan Klebe, Eloi Magnin, Anne-Fleur van Rootselaar, Julien Buratti, Theresa Kühnel, Christopher Schröder, Sebastian Giesselmann, Nikolai Tschernoster, Janine Altmueller, Anaide Lamiral, Boris Keren, Caroline Nava, Delphine Bouteiller, Sylvie Forlani, Ludmila Jornea, Regina Kubica, Tao Ye, Damien Plassard, Bernard Jost, Vincent Meyer, Jean-François Deleuze, Yannick Delpu, Mario D M Avarello, Lisanne S Vijfhuizen, Gabrielle Rudolf, Edouard Hirsch, Thessa Kroes, Philipp S Reif, Felix Rosenow, Christos Ganos, Marie Vidailhet, Lionel Thivard, Alexandre Mathieu, Thomas Bourgeron, Ingo Kurth, Haloom Rafehi, Laura Steenpass, Bernhard Horsthemke, null null, Eric LeGuern, Karl Martin Klein, Pierre M Labauge, Mark F Bennett, Melanie Bahlo, Jozef Gecz, Mark A Corbett, Marina A J Tijssen, Arn M J M van den Maagdenberg, Christel Depienne
Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3. Nature communications 10 (1) (2019)
Mark A Corbett, Thessa Kroes, Liana Veneziano, Mark F Bennett, Rahel Florian, Amy L Schneider, Antonietta Coppola, Laura Licchetta, Silvana Franceschetti, Antonio Suppa, Aaron Wenger, Davide Mei, Manuela Pendziwiat, Sabine Kaya, Massimo Delledonne, Rachel Straussberg, Luciano Xumerle, Brigid Regan, Douglas Crompton, Anne-Fleur van Rootselaar, Anthony Correll, Rachael Catford, Francesca Bisulli, Shreyasee Chakraborty, Sara Baldassari, Paolo Tinuper, Kirston Barton, Shaun Carswell, Martin Smith, Alfredo Berardelli, Renee Carroll, Alison Gardner, Kathryn L Friend, Ilan Blatt, Michele Iacomino, Carlo Di Bonaventura, Salvatore Striano, Julien Buratti, Boris Keren, Caroline Nava, Sylvie Forlani, Gabrielle Rudolf, Edouard Hirsch, Eric Leguern, Pierre Labauge, Simona Balestrini, Josemir W Sander, Zaid Afawi, Ingo Helbig, Hiroyuki Ishiura, Shoji Tsuji, Sanjay M Sisodiya, Giorgio Casari, Lynette G Sadleir, Riaan van Coller, Marina A J Tijssen, Karl Martin Klein, Arn M J M van den Maagdenberg, Federico Zara, Renzo Guerrini, Samuel Frank Berkovic, Tommaso Pippucci, Canafoglia Laura, Melanie Bahlo, Pasquale Striano, Ingrid Eileen Scheffer, Francesco Brancati, Christel Depienne, Jozef Gecz
Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2. Nature communications 10 (1) (2019)

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Publication Activity (10 Years)

Top Topics

Top Venues

Julien Buratti