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Page 1
ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants.
Luo X, Feurstein S, Mohan S, Porter CC, Jackson SA, Keel S, Chicka M, Brown AL, Kesserwan C, Agarwal A, Luo M, Li Z, Ross JE, Baliakas P, Pineda-Alvarez D, DiNardo CD, Bertuch AA, Mehta N, Vulliamy T, Wang Y, Nichols KE, Malcovati L, Walsh MF, Rawlings LH, McWeeney SK, Soulier J, Raimbault A, Routbort MJ, Zhang L, Ryan G, Speck NA, Plon SE, Wu D, Godley LA. Luo X, et al. Among authors: soulier j. Blood Adv. 2019 Oct 22;3(20):2962-2979. doi: 10.1182/bloodadvances.2019000644. Blood Adv. 2019. PMID: 31648317 Free PMC article.
Myelodysplasia and leukemia of Fanconi anemia are associated with a specific pattern of genomic abnormalities that includes cryptic RUNX1/AML1 lesions.
Quentin S, Cuccuini W, Ceccaldi R, Nibourel O, Pondarre C, Pagès MP, Vasquez N, Dubois d'Enghien C, Larghero J, Peffault de Latour R, Rocha V, Dalle JH, Schneider P, Michallet M, Michel G, Baruchel A, Sigaux F, Gluckman E, Leblanc T, Stoppa-Lyonnet D, Preudhomme C, Socié G, Soulier J. Quentin S, et al. Among authors: soulier j. Blood. 2011 Apr 14;117(15):e161-70. doi: 10.1182/blood-2010-09-308726. Epub 2011 Feb 16. Blood. 2011. PMID: 21325596 Free article.
A landscape of germ line mutations in a cohort of inherited bone marrow failure patients.
Bluteau O, Sebert M, Leblanc T, Peffault de Latour R, Quentin S, Lainey E, Hernandez L, Dalle JH, Sicre de Fontbrune F, Lengline E, Itzykson R, Clappier E, Boissel N, Vasquez N, Da Costa M, Masliah-Planchon J, Cuccuini W, Raimbault A, De Jaegere L, Adès L, Fenaux P, Maury S, Schmitt C, Muller M, Domenech C, Blin N, Bruno B, Pellier I, Hunault M, Blanche S, Petit A, Leverger G, Michel G, Bertrand Y, Baruchel A, Socié G, Soulier J. Bluteau O, et al. Among authors: soulier j. Blood. 2018 Feb 15;131(7):717-732. doi: 10.1182/blood-2017-09-806489. Epub 2017 Nov 16. Blood. 2018. PMID: 29146883 Free article.
A recurrent clonally distinct Burkitt lymphoma case highlights genetic key events contributing to oncogenesis.
Penther D, Viailly PJ, Latour S, Etancelin P, Bohers E, Vellemans H, Camus V, Menard AL, Coutant S, Lanic H, Lemasle E, Drieux F, Veresezan L, Ruminy P, Raimbault A, Soulier J, Frebourg T, Tilly H, Jardin F. Penther D, et al. Among authors: soulier j. Genes Chromosomes Cancer. 2019 Aug;58(8):595-601. doi: 10.1002/gcc.22743. Epub 2019 Mar 27. Genes Chromosomes Cancer. 2019. PMID: 30779244 Free PMC article.
Familial predisposition to TP53/complex karyotype MDS and leukemia in DNA repair-deficient xeroderma pigmentosum.
Sarasin A, Quentin S, Droin N, Sahbatou M, Saada V, Auger N, Boursin Y, Dessen P, Raimbault A, Asnafi V, Schmutz JL, Taïeb A, Menck CFM, Rosselli F, La Rochelle LD, Robert C, Sicre de Fontbrune F, Sébert M, Leblanc T, Kannouche P, De Botton S, Solary E, Soulier J. Sarasin A, et al. Among authors: soulier j. Blood. 2019 Jun 20;133(25):2718-2724. doi: 10.1182/blood-2019-01-895698. Epub 2019 Mar 26. Blood. 2019. PMID: 30914417 Free PMC article.
Germline DDX41 mutations define a significant entity within adult MDS/AML patients.
Sébert M, Passet M, Raimbault A, Rahmé R, Raffoux E, Sicre de Fontbrune F, Cerrano M, Quentin S, Vasquez N, Da Costa M, Boissel N, Dombret H, Peffault de Latour R, Socié G, Itzykson R, Fenaux P, Soulier J, Adès L, Clappier E. Sébert M, et al. Among authors: soulier j. Blood. 2019 Oct 24;134(17):1441-1444. doi: 10.1182/blood.2019000909. Blood. 2019. PMID: 31484648 Free 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: soulier j. Blood. 2022 Aug 18;140(7):756-768. doi: 10.1182/blood.2021015328. Blood. 2022. PMID: 35443031 Free PMC article.
616 results