| HAMP as a modifier gene that increases the phenotypic expression of the HFE pC282Y homozygous genotype S Jacolot, G Le Gac, V Scotet, I Quere, C Mura, C Ferec Blood 103 (7), 2835-2840, 2004 | 205 | 2004 |
| The recently identified type 2A juvenile haemochromatosis gene ( HJV ), a second candidate modifier of the C282Y homozygous phenotype G Le Gac, V Scotet, C Ka, I Gourlaouen, L Bryckaert, S Jacolot, C Mura, ... Human Molecular Genetics 13 (17), 1913-1918, 2004 | 146 | 2004 |
| Hereditary Hemochromatosis: Effect of Excessive Alcohol Consumption on Disease Expression in Patients Homozygous for the C282Y Mutation V Scotet, MC Mérour, AY Mercier, B Chanu, T Le Faou, O Raguénes, ... American journal of epidemiology 158 (2), 129-134, 2003 | 116 | 2003 |
| Early onset hereditary hemochromatosis resulting from a novel TFR2 gene nonsense mutation (R105X) in two siblings of north French descent G Le Gac, F Mons, S Jacolot, V Scotet, C Ferec, T Frebourg British journal of haematology 125 (5), 674-678, 2004 | 107 | 2004 |
| The molecular genetics of haemochromatosis G Le Gac, C Férec European journal of human genetics 13 (11), 1172-1185, 2005 | 99 | 2005 |
| Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort R Leman, P Gaildrat, G Le Gac, C Ka, Y Fichou, MP Audrezet, ... Nucleic acids research 46 (15), 7913-7923, 2018 | 97 | 2018 |
| Heterozygous mutations in BMP6 pro-peptide lead to inappropriate hepcidin synthesis and moderate iron overload in humans R Daher, C Kannengiesser, D Houamel, T Lefebvre, E Bardou-Jacquet, ... Gastroenterology 150 (3), 672-683. e4, 2016 | 97 | 2016 |
| DNA damage-induced down-regulation of human Cdc25C and Cdc2 is mediated by cooperation between p53 and maintenance DNA (cytosine-5) methyltransferase 1 G Le Gac, PO Esteve, C Ferec, S Pradhan Journal of Biological Chemistry 281 (34), 24161-24170, 2006 | 78 | 2006 |
| Factors influencing disease phenotype and penetrance in HFE haemochromatosis J Rochette, G Le Gac, K Lassoued, C Ferec, KJH Robson Human genetics 128, 233-248, 2010 | 67 | 2010 |
| Genome-wide association study identifies TF as a significant modifier gene of iron metabolism in HFE hemochromatosis M De Tayrac, MP Roth, AM Jouanolle, H Coppin, G Le Gac, A Piperno, ... Journal of Hepatology 62 (3), 664-672, 2015 | 61 | 2015 |
| 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 |
| Comprehensive functional annotation of 18 missense mutations found in suspected hemochromatosis type 4 patients I Callebaut, R Joubrel, S Pissard, C Kannengiesser, V Gerolami, C Ged, ... Human Molecular Genetics 23 (17), 4479-4490, 2014 | 56 | 2014 |
| Structure‐Function Analysis of the Human Ferroportin Iron Exporter (SLC 40 A 1): Effect of Hemochromatosis Type 4 Disease Mutations and Identification of Critical Residues G Le Gac, C Ka, R Joubrel, I Gourlaouen, P Lehn, JP Mornon, C Férec, ... Human mutation 34 (10), 1371-1380, 2013 | 56 | 2013 |
| 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 |
| Establishment of a medium‐throughput approach for the genotyping of RHD variants and report of nine novel rare alleles Y Fichou, C Le Maréchal, D Jamet, L Bryckaert, C Ka, MP Audrézet, ... Transfusion 53 (8), 1821-1828, 2013 | 45 | 2013 |
| 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 | 43 | 2020 |
| Interlaboratory development and validation of a HRM method applied to the detection of JAK2 exon 12 mutations in polycythemia vera patients V Ugo, S Tondeur, ML Menot, N Bonnin, G Le Gac, C Tonetti, VMD Mas, ... PloS one 5 (1), e8893, 2010 | 42 | 2010 |
| 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 |
| Clinical and molecular aspects of juvenile hemochromatosis in Saguenay–Lac-Saint-Jean (Quebec, Canada) SR Rivard, C Mura, H Simard, R Simard, D Grimard, G Le Gac, ... Blood Cells, Molecules, and Diseases 26 (1), 10-14, 2000 | 41 | 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 |
