Eric Le Guern (Eric Leguern, Eric LeGuern)

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 7

Top Topics

Intellectual Disability

Angiotensin Converting Enzyme

Top Venues

Journal of medical genetics

medRxiv : the preprint server for health sciences

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

Publications

Guillaume Cogan, Kensuke Daida, Kimberley J Billingsley, Christelle Tesson, Sylvie Forlani, Ludmila Jornea, Lionel Arnaud, Laurene Tissier, Eric Le Guern, Andrew B Singleton, Mélanie Ferrien, Hélène Gervais Bernard, Suzanne Lesage, Cornelis Blauwendraat, Alexis Brice
Long-read sequencing unravels the complexity of structural variants in PRKN in two individuals with early-onset Parkinson's disease. medRxiv : the preprint server for health sciences (2024)
Guillaume Cogan, Kensuke Daida, Kimberley J Billingsley, Christelle Tesson, Sylvie Forlani, Ludmila Jornea, Lionel Arnaud, Laurene Tissier, Eric Le Guern, Andrew B Singleton, Mélanie Ferrien, Hélène Gervais Bernard, Suzanne Lesage, Cornelis Blauwendraat, Alexis Brice
Long-read sequencing unravels the complexity of structural variants in PRKN in two individuals with early-onset Parkinson's disease. medRxiv : the preprint server for health sciences (2024)
Lina Sami, Mathilde Chipaux, Sarah Ferrand-Sorbets, Marion Doladilhe, Christine Bulteau, Emmanuel Raffo, Sarah Rosenberg, Georg Dorfmuller, Rayann Checri, Jean-Madeleine de Sainte Agathe, Eric Le Guern, Homa Adle-Biassette, Sara Baldassari, Stephanie Baulac
Genetic Insights Into Hypothalamic Hamartoma: Unraveling Somatic Variants. Neurology. Genetics 10 (5) (2024)
Rana Abi Tayeh, Blandine Dozières-Puyravel, Lionel Arnaud, Luigi Titomanlio, Stéphane Dauger, Sophie Höhn, Eric Le Guern, Stėphane Auvin
Pharmacological management of prolonged seizures in Dravet syndrome including intravenous phenytoin. Epilepsia (2024)
Jean-Madeleine de Sainte Agathe, Ben Pode-Shakked, Sophie Naudion, Vincent Michaud, Benoit Arveiler, Patricia Fergelot, Jean Delmas, Boris Keren, Céline Poirsier, Fowzan Sami Alkuraya, Brahim Tabarki, Eric Bend, Kellie Davis, E Martina Bebin, Michelle L Thompson, Emily M Bryant, Matias Wagner, Iris Hannibal, Jerica Lenberg, Martin Krenn, Kristen M Wigby, Jennifer R Friedman, Maria Iascone, Anna Cereda, Térence Miao, Eric Le Guern, Emanuela Argilli, Elliott Sherr, Oana Caluseriu, Timothy Tidwell, Pinar Bayrak-Toydemir, Caroline Hagedorn, Melanie Brugger, Katharina Vill, Francois-Dominique Morneau-Jacob, Wendy K Chung, Kathryn Nicole Weaver, Joshua W Owens, Ammar Husami, Bimal P Chaudhari, Brandon S Stone, Katie Burns, Rachel Li, Iris M de Lange, Margaux Biehler, Emmanuelle Ginglinger, Bénédicte Gérard, Rolf W Stottmann, Aurélien Trimouille
ARF1 -related disorder: phenotypic and molecular spectrum. Journal of medical genetics (2023)
Marion Aubert-Mucca, Olivier Patat, Sandra Whalen, Lionel Arnaud, Giulia Barcia, Julien Buratti, Benjamin Cogné, Diane Doummar, Caroline Karsenty, Sandra Kenis, Eric Le Guern, 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)
Zied Landoulsi, Fatma Laatar, Eric Noé, Saloua Mrabet, Mouna Ben Djebara, Guillaume Achaz, Caroline Nava, Stéphanie Baulac, Imen Kacem, Amina Gargouri-Berrechid, Riadh Gouider, Eric Le Guern
Clinical and genetic study of Tunisian families with genetic generalized epilepsy: contribution of CACNA1H and MAST4 genes. Neurogenetics 19 (3) (2018)