| Diagnostic yield of repeat genetic testing in idiopathic chronic pancreatitis S Dermine, E Masson, E Girodon-Boulandet, T Bienvenu, C Férec, P Lévy, ... Clinics and Research in Hepatology and Gastroenterology 48 (6), 102346, 2024 | | 2024 |
| De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivity M Tessarech, G Friocourt, F Marguet, M Lecointre, M Le Mao, RM Díaz, ... Genetics in Medicine 26 (5), 101087, 2024 | | 2024 |
| Strengths and limitations of AlphaMissense in CPA1 missense variant classification YH Wang, E Masson, Z Liao, C Férec, WB Zou, JM Chen Gut, 2024 | | 2024 |
| Combining full-length gene assay and SpliceAI to interpret the splicing impact of all possible SPINK1 coding variants H Wu, JH Lin, XY Tang, G Marenne, WB Zou, S Schutz, E Masson, ... Human Genomics 18 (1), 21, 2024 | 1 | 2024 |
| The Inhibition of the Membrane-Bound Transcription Factor Site-1 Protease (MBTP1) Alleviates the p. Phe508del-Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Defects … R Santinelli, N Benz, J Guellec, F Quinquis, E Kocas, J Thomas, T Montier, ... Cells 13 (2), 185, 2024 | | 2024 |
| An unusual diagnosis of alpha‐mannosidosis with ocular anomalies: Behind the scenes of a hidden copy number variation K Uguen, S Redon, K Rouault, M Pensec, C Benech, S Schutz, ... American Journal of Medical Genetics Part A, 2024 | | 2024 |
| Tissue-specific cis-regulation of the CFTR gene C Blotas, M Collobert, A Le Nabec, C Ferec, S Moisan EUROPEAN JOURNAL OF HUMAN GENETICS 32, 322-323, 2024 | | 2024 |
| Genetic and functional analysis of chymotrypsin-like protease (CTRL) in chronic pancreatitis K Eiseler, L Neppl, AW Schmidt, B Rauscher, M Ewers, E Masson, ... Pancreatology 23 (8), 957-963, 2023 | | 2023 |
| 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 |
| Tissue-Specific Regulation of CFTR Gene Expression C Blotas, C Férec, S Moisan International Journal of Molecular Sciences 24 (13), 10678, 2023 | 5 | 2023 |
| The Spectra of Disease-Causing Mutations in the Ferroportin 1 (SLC40A1) Encoding Gene and Related Iron Overload Phenotypes (Hemochromatosis Type 4 and … K Uguen, C Ka, G Collod-Béroud, M Le Tertre, J Guellec, C Férec, ... Human Mutation 2023, 2023 | 1 | 2023 |
| P102 Clear illustration of improved survival in cystic fibrosis using the Kaplan-Meier method: the 50-year experience of Brittany, France C L’Hostis, J Derrien, MP Audrézet, S Ramel, C Belleguic, E Deneuville, ... Journal of Cystic Fibrosis 22, S95, 2023 | | 2023 |
| Non-invasive prenatal diagnosis of monogenic diseases by enhanced relative haplotype dosage analysis M Pacault, C Verebi, M Champion, L Orhant, A Perrier, C Ferec, ... EUROPEAN JOURNAL OF HUMAN GENETICS 31, 46-46, 2023 | | 2023 |
| The multi-faceted nature of 15 CFTR exonic variations: Impact on their functional classification and perspectives for therapy A Bergougnoux, A Billet, C Ka, M Heller, F Degrugillier, ML Vuillaume, ... Journal of Cystic Fibrosis 22 (3), 515-524, 2023 | | 2023 |
| Serologically D-negative blood donors in Thailand: molecular variants and diagnostic strategy P Nuchnoi, J Thongbut, C Bénech, P Kupatawintu, D Chaiwanichsiri, ... Blood Transfusion 21 (3), 209, 2023 | 6 | 2023 |
| Non-invasive prenatal diagnosis of single gene disorders with enhanced relative haplotype dosage analysis for diagnostic implementation M Pacault, C Verebi, M Champion, L Orhant, A Perrier, E Girodon, ... Plos one 18 (4), e0280976, 2023 | 4 | 2023 |
| A new case of Kaufman Oculocerebrofacial syndrome caused by two splicing variants in UBE3B and review of the literature L Couloigner, M Planes, C Ka, S Audebert-Bellanger, S Redon, C Benech, ... Clinical genetics 103 (3), 377-379, 2023 | 1 | 2023 |
| Validation of the ACMG/AMP guidelines-based seven-category variant classification system JM Chen, E Masson, WB Zou, Z Liao, E Génin, DN Cooper, C Férec medRxiv, 2023.01. 23.23284909, 2023 | 3 | 2023 |
| Heritable defects in telomere and mitotic function selectively predispose to sarcomas ML Ballinger, S Pattnaik, PA Mundra, M Zaheed, E Rath, P Priestley, ... Science 379 (6629), 253-260, 2023 | 16 | 2023 |
