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Page 1
Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature.
Torti E, Keren B, Palmer EE, Zhu Z, Afenjar A, Anderson IJ, Andrews MV, Atkinson C, Au M, Berry SA, Bowling KM, Boyle J, Buratti J, Cathey SS, Charles P, Cogne B, Courtin T, Escobar LF, Finley SL, Graham JM Jr, Grange DK, Heron D, Hewson S, Hiatt SM, Hibbs KA, Jayakar P, Kalsner L, Larcher L, Lesca G, Mark PR, Miller K, Nava C, Nizon M, Pai GS, Pappas J, Parsons G, Payne K, Putoux A, Rabin R, Sabatier I, Shinawi M, Shur N, Skinner SA, Valence S, Warren H, Whalen S, Crunk A, Douglas G, Monaghan KG, Person RE, Willaert R, Solomon BD, Juusola J. Torti E, et al. Among authors: larcher l. Genet Med. 2019 Sep;21(9):2036-2042. doi: 10.1038/s41436-019-0454-9. Epub 2019 Feb 11. Genet Med. 2019. PMID: 30739909 Free PMC article.
Hematopoietic differentiation at single-cell resolution in NPM1-mutated AML.
Duchmann M, Joudinaud R, Boudry A, Pasanisi J, Di Feo G, Kim R, Bucci M, Chauvel C, Chat L, Larcher L, Pacchiardi K, Mathis S, Raffoux E, Adès L, Berthon C, Clappier E, Roumier C, Puissant A, Preudhomme C, Duployez N, Itzykson R. Duchmann M, et al. Among authors: larcher l. Blood Cancer J. 2022 Sep 23;12(9):136. doi: 10.1038/s41408-022-00734-1. Blood Cancer J. 2022. PMID: 36151081 Free PMC article. No abstract available.
Prevalence of UBA1 mutations in MDS/CMML patients with systemic inflammatory and auto-immune disease.
Zhao LP, Schell B, Sébert M, Kim R, Lemaire P, Boy M, Mathis S, Larcher L, Chauvel C, Dhouaieb MB, Bisio V, Preudhomme C, Marceau-Renaut A, Itzykson R, Mekinian A, Fain O, Toubert A, Fenaux P, Dulphy N, Clappier E, Adès L. Zhao LP, et al. Among authors: larcher l. Leukemia. 2021 Sep;35(9):2731-2733. doi: 10.1038/s41375-021-01353-8. Epub 2021 Aug 3. Leukemia. 2021. PMID: 34344988 No abstract available.
Concurrent CDX2 cis-deregulation and UBTF::ATXN7L3 fusion define a novel high-risk subtype of B-cell ALL.
Passet M, Kim R, Gachet S, Sigaux F, Chaumeil J, Galland A, Sexton T, Quentin S, Hernandez L, Larcher L, Bergugnat H, Ye T, Karasu N, Caye A, Heizmann B, Duluc I, Chevallier P, Rousselot P, Huguet F, Leguay T, Hunault M, Pflumio F, Freund JN, Lobry C, Lhéritier V, Dombret H, Domon-Dell C, Soulier J, Boissel N, Clappier E. Passet M, et al. Among authors: larcher l. Blood. 2022 Jun 16;139(24):3505-3518. doi: 10.1182/blood.2021014723. Blood. 2022. PMID: 35316324 Free PMC article.
Prognostic impact of DDX41 germline mutations in intensively treated acute myeloid leukemia patients: an ALFA-FILO study.
Duployez N, Largeaud L, Duchmann M, Kim R, Rieunier J, Lambert J, Bidet A, Larcher L, Lemoine J, Delhommeau F, Hirsch P, Fenwarth L, Kosmider O, Decroocq J, Bouvier A, Le Bris Y, Ochmann M, Santagostino A, Adès L, Fenaux P, Thomas X, Micol JB, Gardin C, Itzykson R, Soulier J, Clappier E, Recher C, Preudhomme C, Pigneux A, Dombret H, Delabesse E, Sébert M. Duployez N, et al. Among authors: larcher l. Blood. 2022 Aug 18;140(7):756-768. doi: 10.1182/blood.2021015328. Blood. 2022. PMID: 35443031 Free PMC article.
Clinical and Molecular Determinants of Clonal Evolution in Aplastic Anemia and Paroxysmal Nocturnal Hemoglobinuria.
Gurnari C, Pagliuca S, Prata PH, Galimard JE, Catto LFB, Larcher L, Sebert M, Allain V, Patel BJ, Durmaz A, Pinto AL, Inacio MCB, Hernandez L, Dhedin N, Caillat-Zucman S, Clappier E, Sicre de Fontbrune F, Voso MT, Visconte V, Peffault de Latour R, Soulier J, Calado RT, Socié G, Maciejewski JP. Gurnari C, et al. Among authors: larcher l. J Clin Oncol. 2023 Jan 1;41(1):132-142. doi: 10.1200/JCO.22.00710. Epub 2022 Sep 2. J Clin Oncol. 2023. PMID: 36054881 Free PMC article.
Improved collection of hematopoietic stem cells and progenitors from Fanconi anemia patients for gene therapy purposes.
Sevilla J, Navarro S, Rio P, Sánchez-Domínguez R, Zubicaray J, Gálvez E, Merino E, Sebastián E, Azqueta C, Casado JA, Segovia JC, Alberquilla O, Bogliolo M, Román-Rodríguez FJ, Giménez Y, Larcher L, Salgado R, Pujol RM, Hladun R, Castillo A, Soulier J, Querol S, Fernández J, Schwartz J, García de Andoín N, López R, Catalá A, Surralles J, Díaz-de-Heredia C, Bueren JA. Sevilla J, et al. Among authors: larcher l. Mol Ther Methods Clin Dev. 2021 Jun 12;22:66-75. doi: 10.1016/j.omtm.2021.06.001. eCollection 2021 Sep 10. Mol Ther Methods Clin Dev. 2021. PMID: 34485595 Free PMC article.
114 results