| 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 |
| Insights into the role of glycerophospholipids on the iron export function of SLC40A1 and the molecular mechanisms of ferroportin disease. R Debbiche, A Elbahnsi, K Uguen, C Ka, I Callebaut, G Le Gac bioRxiv, 2024.02. 05.578958, 2024 | | 2024 |
| 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 |
| 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 |
| 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 |
| 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 |
| Cholesterol modulates the human FPN1 iron export function in plasma membrane liquid-ordered microdomains R Debbiche, C Ka, I Gourlaouen, S Maestri, K Uguen, PA Jaffres, ... bioRxiv, 2023.12. 14.571614, 2023 | | 2023 |
| SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing R Leman, B Parfait, D Vidaud, E Girodon, L Pacot, G Le Gac, C Ka, ... Human Mutation 43 (12), 2308-2323, 2022 | 30 | 2022 |
| A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families M Ganapathi, G Friocourt, N Gueguen, MW Friederich, G Le Gac, V Okur, ... Journal of inherited metabolic disease 45 (5), 996-1012, 2022 | 2 | 2022 |
| Expanding ACMG variant classification guidelines into a general framework E Masson, WB Zou, E Génin, DN Cooper, G Le Gac, Y Fichou, N Pu, ... Human Genomics 16 (1), 31, 2022 | 37 | 2022 |
| A proposed general variant classification framework using chronic pancreatitis as a disease model E Masson, WB Zou, E Génin, DN Cooper, GL Gac, Y Fichou, N Pu, ... medRxiv, 2022.06. 03.22275950, 2022 | | 2022 |
| Prevalence of HFE‐related haemochromatosis and secondary causes of hyperferritinaemia and their association with iron overload in 1059 French patients treated … G Le Gac, V Scotet, I Gourlaouen, C L'Hostis, MC Merour, Z Karim, ... Alimentary Pharmacology & Therapeutics 55 (8), 1016-1027, 2022 | 3 | 2022 |
| 1258P MET exon14 skipping in non-small cell lung cancer: Clinicopathological characteristics, treatments, and efficacy of crizotinib according to functional analysis: AFonMET … H Babey, P Jamme, R Gervais, JB Assié, R Veillon, H Doubre, M Pérol, ... Annals of Oncology 32, S987, 2021 | | 2021 |
| Splicing outcomes of 5′ splice site GT> GC variants that generate wild-type transcripts differ significantly between full-length and minigene splicing assays JH Lin, H Wu, WB Zou, E Masson, Y Fichou, G Le Gac, DN Cooper, ... Frontiers in Genetics 12, 701652, 2021 | 11 | 2021 |
| Missense RHD single nucleotide variants induce weakened D antigen expression by altering splicing and/or protein expression L Raud, M Le Tertre, L Vigneron, C Ka, G Richard, I Callebaut, JM Chen, ... Transfusion 61 (8), 2468-2476, 2021 | 5 | 2021 |
| Insights into the Role of the Discontinuous TM7 Helix of Human Ferroportin through the Prism of the Asp325 Residue M Le Tertre, A Elbahnsi, C Ka, I Callebaut, G Le Gac International Journal of Molecular Sciences 22 (12), 6412, 2021 | 2 | 2021 |
| Splicing analysis of SLC40A1 missense variations and contribution to hemochromatosis type 4 phenotypes M Le Tertre, C Ka, L Raud, I Berlivet, I Gourlaouen, G Richard, K Uguen, ... Blood Cells, Molecules, and Diseases 87, 102527, 2021 | 7 | 2021 |
| Analyse FONctionnelle des mutations identifiées au voisinage de l’exon 14 du gène MET et efficacité du crizotinib chez des patients atteints d’un carcinome broncho-pulmonaire … H Babey, P Jamme, R Gervais, JB Assié, R Veillon, H Doubre, M Pérol, ... Revue des Maladies Respiratoires Actualités 13 (1), 61, 2021 | | 2021 |
| Assessment of branch point prediction tools to predict physiological branch points and their alteration by variants R Leman, H Tubeuf, S Raad, I Tournier, C Derambure, R Lanos, ... BMC genomics 21, 1-12, 2020 | 40 | 2020 |
| Biallelic variants in MAATS1 encoding CFAP91, a calmodulin-associated and spoke-associated complex protein, cause severe astheno-teratozoospermia and male infertility G Martinez, J Beurois, D Dacheux, C Cazin, M Bidart, ZE Kherraf, ... Journal of Medical Genetics 57 (10), 708-716, 2020 | 45 | 2020 |
