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2009 1
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An inherited gain-of-function risk allele in EPOR predisposes to familial JAK2V617F myeloproliferative neoplasms.
Rabadan Moraes G, Pasquier F, Marzac C, Deconinck E, Damanti CC, Leroy G, El-Khoury M, El Nemer W, Kiladjian JJ, Raslova H, Najman A, Vainchenker W, Marty C, Bellanné-Chantelot C, Plo I. Rabadan Moraes G, et al. Among authors: leroy g. Br J Haematol. 2022 Jul;198(1):131-136. doi: 10.1111/bjh.18165. Epub 2022 Mar 30. Br J Haematol. 2022. PMID: 35355248
Germline ATG2B/GSKIP-containing 14q32 duplication predisposes to early clonal hematopoiesis leading to myeloid neoplasms.
Pegliasco J, Hirsch P, Marzac C, Isnard F, Meniane JC, Deswarte C, Pellet P, Lemaitre C, Leroy G, Rabadan Moraes G, Guermouche H, Schmaltz-Panneau B, Pasquier F, Colas C, Benusiglio PR, Bera O, Bourhis JH, Brissot E, Caron O, Chraibi S, Cony-Makhoul P, Delaunay-Darivon C, Lapusan S, de Fontbrune FS, Fuseau P, Najman A, Vainchenker W, Delhommeau F, Micol JB, Plo I, Bellanné-Chantelot C. Pegliasco J, et al. Among authors: leroy g. Leukemia. 2022 Jan;36(1):126-137. doi: 10.1038/s41375-021-01319-w. Epub 2021 Jun 25. Leukemia. 2022. PMID: 34172895
Germline duplication of ATG2B and GSKIP predisposes to familial myeloid malignancies.
Saliba J, Saint-Martin C, Di Stefano A, Lenglet G, Marty C, Keren B, Pasquier F, Valle VD, Secardin L, Leroy G, Mahfoudhi E, Grosjean S, Droin N, Diop M, Dessen P, Charrier S, Palazzo A, Merlevede J, Meniane JC, Delaunay-Darivon C, Fuseau P, Isnard F, Casadevall N, Solary E, Debili N, Bernard OA, Raslova H, Najman A, Vainchenker W, Bellanné-Chantelot C, Plo I. Saliba J, et al. Among authors: leroy g. Nat Genet. 2015 Oct;47(10):1131-40. doi: 10.1038/ng.3380. Epub 2015 Aug 17. Nat Genet. 2015. PMID: 26280900
Analysis of the ten-eleven translocation 2 (TET2) gene in familial myeloproliferative neoplasms.
Saint-Martin C, Leroy G, Delhommeau F, Panelatti G, Dupont S, James C, Plo I, Bordessoule D, Chomienne C, Delannoy A, Devidas A, Gardembas-Pain M, Isnard F, Plumelle Y, Bernard O, Vainchenker W, Najman A, Bellanné-Chantelot C; French Group of Familial Myeloproliferative Disorders. Saint-Martin C, et al. Among authors: leroy g. Blood. 2009 Aug 20;114(8):1628-32. doi: 10.1182/blood-2009-01-197525. Epub 2009 Jun 29. Blood. 2009. PMID: 19564637 Free article.