LE GUILLOU HORN Xavier

Publications HAL

Article dans une revue (12 documents)

Alexis Hermida, Guillaume Jedraszak, Flavie Ader, Isabelle Denjoy, Véronique Fressart, et al.. Systematic analysis of SCN5A variants associated with inherited cardiac diseases. Heart Rhythm, 2025, 22 (3), pp.844-851. ⟨10.1016/j.hrthm.2024.08.018⟩. ⟨hal-04670762⟩
Ruben Hermann, Vincent Grobost, Xavier Le Guillou-Horn, Christian Lavigne, Antoine Parrot, et al.. Effect of oral nintedanib vs placebo on epistaxis in hereditary hemorrhagic telangiectasia: the EPICURE multicenter randomized double-blind trial. Angiogenesis, 2024, 28 (1), pp.9. ⟨10.1007/s10456-024-09962-4⟩. ⟨hal-04884355⟩
Marie Massier, Martine Doco-Fenzy, Matthieu Egloff, Xavier Le Guillou, Gwenaël Le Guyader, et al.. 3q29 duplications: A cohort of 46 patients and a literature review. American Journal of Medical Genetics Part A, 2024, 194 (7), pp.e63531. ⟨10.1002/ajmg.a.63531⟩. ⟨hal-04488411⟩
Thomas Husson, François Lecoquierre, Gaël Nicolas, Anne-Claire Richard, Alexandra Afenjar, et al.. Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders. European Journal of Human Genetics, 2024, 32 (2), pp.190-199. ⟨10.1038/s41431-023-01474-x⟩. ⟨hal-04283066⟩
Alexis Hermida, Flavie Ader, Gilles Millat, Guillaume Jedraszak, Phillipe Maury, et al.. NEXN gene in cardiomyopathies and sudden cardiac deaths: prevalence, phenotypic expression, and prognosis. Circulation: Genomic and Precision Medicine, 2023, ⟨10.1161/CIRCGEN.123.004285⟩. ⟨hal-04380043⟩
Emmanuelle Masson, Stéphanie Berthet, Gerald Le Gac, Marc Le Rhun, Chandran Ka, et al.. Identification of protease-sensitive but not misfolding PNLIP variants in familial and hereditary pancreatitis. Pancreatology, 2023, 23 (5), pp.507-511. ⟨10.1016/j.pan.2023.05.011⟩. ⟨hal-04188202⟩
Vincent Grobost, Sami Hammi, Bruno Pereira, Alexandre Guilhem, Pierre Duffau, et al.. Antiplatelet and anticoagulant therapies in hereditary hemorrhagic telangiectasia: A large French cohort study (RETROPLACO℡). Thrombosis Research, 2023, 229, pp.107-113. ⟨10.1016/j.thromres.2023.07.001⟩. ⟨hal-04636068⟩
Anne-Sophie Denommé-Pichon, Stephan C Collins, Ange-Line Bruel, Anna Mikhaleva, Christel Wagner, et al.. YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse. Genetics in Medicine, 2023, pp.100835. ⟨10.1016/j.gim.2023.100835⟩. ⟨inserm-04094776⟩
Maria W. A. Teunissen, Elly Lewerissa, Eline J. H. van Hugte, Shan Wang, Charlotte W. Ockeloen, et al.. ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networks. Human Molecular Genetics, 2023, 32 (14), pp.2373-2385. ⟨10.1093/hmg/ddad081⟩. ⟨hal-04456350⟩
Emmanuelle Masson, Maren Ewers, Sumit Paliwal, Kiyoshi Kume, Virginie Scotet, et al.. The PRSS3P2 and TRY7 deletion copy number variant modifies risk for chronic pancreatitis. Pancreatology, 2022, 23 (1), pp.48-56. ⟨10.1016/j.pan.2022.11.013⟩. ⟨hal-03921852⟩
Sébastien Küry, Jinwei Zhang, Thomas Besnard, Alfonso Caro-Llopis, Xue Zeng, et al.. Rare pathogenic variants in WNK3 cause X-linked intellectual disability. Genetics in Medicine, 2022, 24 (9), pp.1941-1951. ⟨10.1016/j.gim.2022.05.009⟩. ⟨hal-03790515⟩
Marine Arnaud, Pauline Berthome, Romain Tixier, Jean Briand, Olivier Geoffroy, et al.. Number of electrocardiogram leads in the diagnosis of spontaneous Brugada syndrome. Archives of cardiovascular diseases, 2020, 113, pp.152 - 158. ⟨10.1016/j.acvd.2019.10.007⟩. ⟨hal-03490219⟩

Accès directs

Menu principal

LE GUILLOU HORN Xavier

Publications HAL