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Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies.
Bogliolo M, Pujol R, Aza-Carmona M, Muñoz-Subirana N, Rodriguez-Santiago B, Casado JA, Rio P, Bauser C, Reina-Castillón J, Lopez-Sanchez M, Gonzalez-Quereda L, Gallano P, Catalá A, Ruiz-Llobet A, Badell I, Diaz-Heredia C, Hladun R, Senent L, Argiles B, Bergua Burgues JM, Bañez F, Arrizabalaga B, López Almaraz R, Lopez M, Figuera Á, Molinés A, Pérez de Soto I, Hernando I, Muñoz JA, Del Rosario Marin M, Balmaña J, Stjepanovic N, Carrasco E, Cuesta I, Cosuelo JM, Regueiro A, Moraleda Jimenez J, Galera-Miñarro AM, Rosiñol L, Carrió A, Beléndez-Bieler C, Escudero Soto A, Cela E, de la Mata G, Fernández-Delgado R, Garcia-Pardos MC, Sáez-Villaverde R, Barragaño M, Portugal R, Lendinez F, Hernadez I, Vagace JM, Tapia M, Nieto J, Garcia M, Gonzalez M, Vicho C, Galvez E, Valiente A, Antelo ML, Ancliff P, Garcia F, Dopazo J, Sevilla J, Paprotka T, Pérez-Jurado LA, Bueren J, Surralles J. Bogliolo M, et al. Among authors: perez de soto i. J Med Genet. 2020 Apr;57(4):258-268. doi: 10.1136/jmedgenet-2019-106249. Epub 2019 Oct 5. J Med Genet. 2020. PMID: 31586946
RUNX1 amplification in AML with myelodysplasia-related changes and ring 21 chromosomes.
Burillo-Sanz S, Vargas MT, Morales-Camacho RM, Caballero-Velázquez T, Sánchez J, García-Lozano JR, Pérez de Soto I, Prats-Martín C, Bernal R, Pérez-Simón JA. Burillo-Sanz S, et al. Among authors: perez de soto i. Hematol Oncol. 2017 Dec;35(4):894-899. doi: 10.1002/hon.2287. Epub 2016 Mar 7. Hematol Oncol. 2017. PMID: 26947932
MLL-rearranged acute myeloid leukemia: Influence of the genetic partner in allo-HSCT response and prognostic factor of MLL 3' region mRNA expression.
Burillo-Sanz S, Morales-Camacho RM, Caballero-Velázquez T, Carrillo E, Sánchez J, Pérez-López O, Pérez de Soto I, González Campos J, Prats-Martín C, Bernal R, Vargas MT. Burillo-Sanz S, et al. Among authors: perez de soto i. Eur J Haematol. 2018 May;100(5):436-443. doi: 10.1111/ejh.13037. Epub 2018 Mar 1. Eur J Haematol. 2018. PMID: 29384595