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Clinical, biological, and prognostic implications of SF3B1 co-occurrence mutations in very low/low- and intermediate-risk MDS patients.
Janusz K, Izquierdo MM, Cadenas FL, Ramos F, Sánchez JMH, Lumbreras E, Robledo C, Del Real JS, Caballero JC, Collado R, Bernal T, Pedro C, Insunza A, de Paz R, Xicoy B, Salido E, García JS, Mínguez SS, García CM, Muñoz AMS, Barba MS, Rivas JMH, Abáigar M, Campelo MD. Janusz K, et al. Ann Hematol. 2021 Aug;100(8):1995-2004. doi: 10.1007/s00277-020-04360-4. Epub 2021 Jan 6. Ann Hematol. 2021. PMID: 33409621
Networking for advanced molecular diagnosis in acute myeloid leukemia patients is possible: the PETHEMA NGS-AML project.
Sargas C, Ayala R, Chillón MC, Larráyoz MJ, Carrillo-Cruz E, Bilbao C, Yébenes-Ramírez M, Llop M, Rapado I, García-Sanz R, Vázquez I, Soria E, Florido-Ortega Y, Janusz K, Botella C, Serrano J, Martínez-Cuadrón D, Bergua J, Amigo ML, Martínez-Sánchez P, Tormo M, Bernal T, Herrera-Puente P, García R, Algarra L, Sayas MJ, Costilla-Barriga L, Pérez-Santolalla E, Marchante I, Lavilla-Rubira E, Noriega V, Alonso-Domínguez JM, Sanz MÁ, Sánchez-Garcia J, Gómez-Casares MT, Pérez-Simón JA, Calasanz MJ, González-Díaz M, Martínez-López J, Barragán E, Montesinos P. Sargas C, et al. Among authors: janusz k. Haematologica. 2021 Dec 1;106(12):3079-3089. doi: 10.3324/haematol.2020.263806. Haematologica. 2021. PMID: 33179471 Free PMC article.
Chronic graft-versus-host disease could ameliorate the impact of adverse somatic mutations in patients with myelodysplastic syndromes and hematopoietic stem cell transplantation.
Caballero JC, Sánchez Barba M, Hernández Sánchez JM, Such E, Janusz K, Sanz G, Cabrero M, Chillón C, Cervera J, Hurtado AM, Jerez A, Calderón Cabrera C, Valcárcel D, Lumbreras E, Abáigar M, López Cadenas F, Hernández Rivas JM, Del Cañizo MC, Díez Campelo M. Caballero JC, et al. Among authors: janusz k. Ann Hematol. 2019 Sep;98(9):2151-2162. doi: 10.1007/s00277-019-03751-6. Epub 2019 Jul 16. Ann Hematol. 2019. PMID: 31312927
Molecular Diagnosis of Inherited Coagulation and Bleeding Disorders.
Bastida JM, Benito R, Lozano ML, Marín-Quilez A, Janusz K, Martín-Izquierdo M, Hernández-Sánchez J, Palma-Barqueros V, Hernández-Rivas JM, Rivera J, González-Porras JR. Bastida JM, et al. Among authors: janusz k. Semin Thromb Hemost. 2019 Oct;45(7):695-707. doi: 10.1055/s-0039-1687889. Epub 2019 Apr 30. Semin Thromb Hemost. 2019. PMID: 31041795 Review.
Identification of novel variants in ten patients with Hermansky-Pudlak syndrome by high-throughput sequencing.
Bastida JM, Morais S, Palma-Barqueros V, Benito R, Bermejo N, Karkucak M, Trapero-Marugan M, Bohdan N, Pereira M, Marin-Quilez A, Oliveira J, Yucel Y, Santos R, Padilla J, Janusz K, Lau C, Martin-Izquierdo M, Couto E, Francisco Ruiz-Pividal J, Vicente V, Hernández-Rivas JM, González-Porras JR, Luisa Lozano M, Lima M, Rivera J. Bastida JM, et al. Among authors: janusz k. Ann Med. 2019 Mar;51(2):141-148. doi: 10.1080/07853890.2019.1587498. Epub 2019 Apr 16. Ann Med. 2019. PMID: 30990103 Free PMC article.
Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders.
Bastida JM, Lozano ML, Benito R, Janusz K, Palma-Barqueros V, Del Rey M, Hernández-Sánchez JM, Riesco S, Bermejo N, González-García H, Rodriguez-Alén A, Aguilar C, Sevivas T, López-Fernández MF, Marneth AE, van der Reijden BA, Morgan NV, Watson SP, Vicente V, Hernández-Rivas JM, Rivera J, González-Porras JR. Bastida JM, et al. Among authors: janusz k. Haematologica. 2018 Jan;103(1):148-162. doi: 10.3324/haematol.2017.171132. Epub 2017 Oct 5. Haematologica. 2018. PMID: 28983057 Free PMC article.
Two novel variants of the ABCG5 gene cause xanthelasmas and macrothrombocytopenia: a brief review of hematologic abnormalities of sitosterolemia.
Bastida JM, Benito R, Janusz K, Díez-Campelo M, Hernández-Sánchez JM, Marcellini S, Girós M, Rivera J, Lozano ML, Hortal A, Hernández-Rivas JM, González-Porras JR. Bastida JM, et al. Among authors: janusz k. J Thromb Haemost. 2017 Sep;15(9):1859-1866. doi: 10.1111/jth.13777. Epub 2017 Aug 5. J Thromb Haemost. 2017. PMID: 28696550 Free article. Review.
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