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| Rare pathogenic variants in WNK3 cause X-linked intellectual disability S Küry, J Zhang, T Besnard, A Caro-Llopis, X Zeng, SM Robert, SS Josiah, ... Genetics in Medicine 24 (9), 1941-1951, 2022 | 6 | 2022 |
| Identification of protease-sensitive but not misfolding PNLIP variants in familial and hereditary pancreatitis E Masson, S Berthet, G Le Gac, M Le Rhun, C Ka, S Autret, I Gourlaouen, ... Pancreatology 23 (5), 507-511, 2023 | 3 | 2023 |
| Classification of PRSS1 variants responsible for chronic pancreatitis: An expert perspective from the Franco-Chinese GREPAN Study Group E Masson, WB Zou, N Pu, V Rebours, E Génin, H Wu, JH Lin, YC Wang, ... Pancreatology 23 (5), 491-506, 2023 | 3 | 2023 |
| ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived … MWA Teunissen, E Lewerissa, EJH van Hugte, S Wang, CW Ockeloen, ... Human Molecular Genetics 32 (14), 2373-2385, 2023 | 2 | 2023 |
| Antiplatelet and anticoagulant therapies in hereditary hemorrhagic telangiectasia: A large French cohort study (RETROPLACOTEL) V Grobost, S Hammi, B Pereira, A Guilhem, P Duffau, J Seguier, A Parrot, ... Thrombosis Research 229, 107-113, 2023 | 1 | 2023 |
| YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse AS Denommé-Pichon, SC Collins, AL Bruel, A Mikhaleva, C Wagner, ... Genetics in Medicine 25 (7), 100835, 2023 | 1 | 2023 |
| The PRSS3P2 and TRY7 deletion copy number variant modifies risk for chronic pancreatitis E Masson, M Ewers, S Paliwal, K Kume, V Scotet, DN Cooper, V Rebours, ... Pancreatology 23 (1), 48-56, 2023 | 1 | 2023 |
| 3q29 duplications: A cohort of 46 patients and a literature review M Massier, M Doco‐Fenzy, M Egloff, X Le Guillou, G Le Guyader, ... American Journal of Medical Genetics Part A, e63531, 2024 | | 2024 |
| NEXN gene in cardiomyopathies and sudden cardiac deaths: prevalence, phenotypic expression, and prognosis A Hermida, F Ader, G Millat, G Jedraszak, P Maury, R Cador, PA Catalan, ... Circulation: Genomic and Precision Medicine 17 (1), e004285, 2024 | | 2024 |
| Further phenotypical delineation of DLG3 related Intellectual developmental disorder: description of 9 new cases M Malbos, E Colin, X Le Guillou, O Caluseriu, B Isidor, B Cogne, C Mignot, ... EUROPEAN JOURNAL OF HUMAN GENETICS 32, 178-179, 2024 | | 2024 |
| Biallelic variants in INTS11 are associated with a novel complex neurological disorder M Niceta, T Burak, E Macke, M Hubshman, O Kanca, L Schultz-Rogers, ... EUROPEAN JOURNAL OF HUMAN GENETICS 32, 6-7, 2024 | | 2024 |
| Diagnostic and Therapeutic Issues in Glioma Using Imaging Data: The Challenge of Numerical Twinning R Guillevin, M Naudin, P Fayolle, C Giraud, X Le Guillou, C Thomas, ... Journal of Clinical Medicine 12 (24), 7706, 2023 | | 2023 |
| NEXN-mediated cardiomyopathies: Prevalence, phenotypic expression, and prognosis A Hermida, F Ader, G Millat, P Chevalier, G Clerici, X Le Guillou, A Milhem, ... Archives of Cardiovascular Diseases Supplements 15 (1), 43, 2023 | | 2023 |
| Identification by Whole Genome Sequencing of a New Gene Causing Hereditary Sinus Node and Atrioventricular Conduction Dysfunction X Le Guillou, P Lindenbaum, E Baron, A Thollet, F Kyndt, H Le Marec, ... Archives of Cardiovascular Diseases Supplements 12 (2-4), 263, 2020 | | 2020 |
| Number of electrocardiogram leads in the diagnosis of spontaneous Brugada syndrome M Arnaud, P Berthome, R Tixier, J Briand, O Geoffroy, X Le Guillou, ... Archives of cardiovascular diseases 113 (3), 152-158, 2020 | | 2020 |
