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Interlaboratory development and validation of a HRM method applied to the detection of JAK2 exon 12 mutations in polycythemia vera patients.
Ugo V, Tondeur S, Menot ML, Bonnin N, Le Gac G, Tonetti C, Mansat-De Mas V, Lecucq L, Kiladjian JJ, Chomienne C, Dosquet C, Parquet N, Darnige L, Porneuf M, Escoffre-Barbe M, Giraudier S, Delabesse E, Cassinat B; French Intergroup of Myeloproliferative disorders. Ugo V, et al. Among authors: le gac g. PLoS One. 2010 Jan 26;5(1):e8893. doi: 10.1371/journal.pone.0008893. PLoS One. 2010. PMID: 20126644 Free PMC article.
SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing.
Leman R, Parfait B, Vidaud D, Girodon E, Pacot L, Le Gac G, Ka C, Ferec C, Fichou Y, Quesnelle C, Aucouturier C, Muller E, Vaur D, Castera L, Boulouard F, Ricou A, Tubeuf H, Soukarieh O, Gaildrat P, Riant F, Guillaud-Bataille M, Caputo SM, Caux-Moncoutier V, Boutry-Kryza N, Bonnet-Dorion F, Schultz I, Rossing M, Quenez O, Goldenberg L, Harter V, Parsons MT, Spurdle AB, Frébourg T, Martins A, Houdayer C, Krieger S. Leman R, et al. Among authors: le gac g. Hum Mutat. 2022 Dec;43(12):2308-2323. doi: 10.1002/humu.24491. Epub 2022 Nov 20. Hum Mutat. 2022. PMID: 36273432 Free PMC article.
A new point mutation in EPOR inducing a short deletion in congenital erythrocytosis.
Chauveau A, Luque Paz D, Lecucq L, Le Gac G, Le Maréchal C, Gueguen P, Berthou C, Ugo V. Chauveau A, et al. Among authors: le gac g, le marechal c. Br J Haematol. 2016 Feb;172(3):475-7. doi: 10.1111/bjh.13511. Epub 2015 May 26. Br J Haematol. 2016. PMID: 26010769 Free article. No abstract available.
82 results