| 1* Comparison of bioinformatics, reporter minigene and mRNA study to analyse the effect of unclassified variants on CFTR mRNA splicing MP Audrézet, C Ka, K Le Millier, M Planes, G Le Gac, C Férec Journal of Cystic Fibrosis, S1, 2011 | | 2011 |
| 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 |
| 646: Predicting colon cancer occurrence from transcriptomic, splicing and genomic data in colon adenomas L Corcos, M Pesson, A Uguen, K Trillet, S Redon, P De La Grange, ... European Journal of Cancer, S154, 2014 | | 2014 |
| A common SNP near BMP2 is associated with severity of the iron burden in HFE p. C282Y homozygous patients: a follow-up study J Milet, G Le Gac, V Scotet, I Gourlaouen, C Thèze, J Mosser, C Bourgain, ... Blood Cells, Molecules, and Diseases 44 (1), 34-37, 2010 | 41 | 2010 |
| A gene expression and pre-mRNA splicing signature that marks the adenoma-adenocarcinoma progression in colorectal cancer M Pesson, A Volant, A Uguen, K Trillet, P De La Grange, M Aubry, ... PloS one 9 (2), e87761, 2014 | 59 | 2014 |
| 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 |
| A new case of Kaufman Oculocerebrofacial Syndrome caused by two new splicing variants in UBE3B. K Uguen, C Ka, M Planes, S Audebert-Bellanger, S Redon, C Benech, ... European Journal of Human Genetics 28 (SUPPL 1), 366-367, 2020 | | 2020 |
| 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 |
| A new point mutation in EPOR inducing a short deletion in congenital erythrocytosis. A Chauveau, D Luque Paz, L Lecucq, G Le Gac, C Le Maréchal, ... British Journal of Haematology 172 (3), 2016 | 16 | 2016 |
| A novel hypomorphic splice variant in EIF2B5 gene is associated with mild ovarioleukodystrophy A Rodríguez‐Palmero, A Schlüter, E Verdura, M Ruiz, JJ Martínez, ... Annals of Clinical and Translational Neurology 7 (9), 1574-1579, 2020 | 3 | 2020 |
| A novel missense mutation in SLC40A1 results in resistance to hepcidin and confirms the existence of two ferroportin‐associated iron overload diseases E Létocart, G Le Gac, S Majore, C Ka, FC Radio, I Gourlaouen, ... British journal of haematology 147 (3), 379-385, 2009 | 53 | 2009 |
| A novel missense mutation SLC40A1 results in resistance to hepcidin and confirms phenotypic heterogeneity of the ferroportin disease. E Lètocart, G LE GAC, S Majore, F Radio, I Gourlaouen, ... BRITISH JOURNAL OF HAEMATOLOGY 147 (3), 379-385, 2009 | | 2009 |
| A novel mutation in the CUB sequence of matriptase-2 (TMPRSS6) is implicated in iron-resistant iron deficiency anaemia (IRIDA). A Jaspers, J Caers, G Le Gac, C Ferec, Y Beguin, G Fillet British journal of haematology 160 (4), 2013 | 23 | 2013 |
| A proper definition of the target phenotype greatly improves the identification of rare causative mutations: lessons from the study of 280 suspected HFE hemochromatosis … K Uguen, V Scotet, C Ka, I Gourlaouen, C L'Hostis, T Cuppens, E Genin, ... EUROPEAN JOURNAL OF HUMAN GENETICS 26, 296-296, 2018 | | 2018 |
| 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 |
| Altération du mécanisme d’épissage dans l’affaiblissement de l’expression membranaire de l’antigène D L Raud, L Vigneron, C Ka, I Gourlaouen, I Callebaut, C Férec, G Le Gac, ... Transfusion Clinique et Biologique 26 (3), S59, 2019 | | 2019 |
| 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 |
| Analysis of long-range interactions in primary human cells identifies cooperative CFTR regulatory elements S Moisan, S Berlivet, C Ka, GL Gac, J Dostie, C Férec Nucleic acids research 44 (6), 2564-2576, 2016 | 23 | 2016 |
| Analysis of the transcriptional regulation of the human HFE gene. C Mura, G Le Gac, C Ferec AMERICAN JOURNAL OF HUMAN GENETICS 67 (4), 195-195, 2000 | | 2000 |
| 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 |
