K. Janusz

发表

Molecular Diagnosis of Inherited Coagulation and Bleeding Disorders

J. Hernández-Rivas, J. González-Porras, R. Benito, 2019, Seminars in Thrombosis and Hemostasis.

A two-step approach for sequencing spliceosome-related genes as a complementary diagnostic assay in MDS patients with ringed sideroblasts.

J. Hernández-Rivas, A. Kohlmann, C. Robledo, 2017, Leukemia research.

Deregulation of Genes Related to Iron and Mitochondrial Metabolism in Refractory Anemia with Ring Sideroblasts

J. Hernández-Rivas, J. De las Rivas, C. Fontanillo, 2015, PloS one.

Chronic graft-versus-host disease could ameliorate the impact of adverse somatic mutations in patients with myelodysplastic syndromes and hematopoietic stem cell transplantation

J. Cervera, A. Hurtado, A. Jerez, 2019, Annals of Hematology.

Two novel variants of the ABCG5 gene cause xanthelasmas and macrothrombocytopenia: a brief review of hematologic abnormalities of sitosterolemia

J. Hernández-Rivas, J. González-Porras, R. Benito, 2017, Journal of thrombosis and haemostasis : JTH.

Sitosterolemia: diagnosis, metabolic and hematological abnormalities, cardiovascular disease and management.

J. Hernández-Rivas, J. González-Porras, R. Benito, 2018, Current medicinal chemistry.

Application of a molecular diagnostic algorithm for haemophilia A and B using next-generation sequencing of entire F8, F9 and VWF genes

J. Hernández-Rivas, G. R. Ordóñez, M. González-Díaz, 2016, Thrombosis and Haemostasis.

Identification of novel variants in ten patients with Hermansky-Pudlak syndrome by high-throughput sequencing

J. Hernández-Rivas, Jorge Oliveira, J. González-Porras, 2019, Annals of medicine.

Wiskott–Aldrich syndrome in a child presenting with macrothrombocytopenia

M. Pérez‐Andrés, Elena Blanco, V. Vicente, 2017, Platelets.

Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders

J. Hernández-Rivas, S. Watson, J. González-Porras, 2017, Haematologica.

Networking for advanced molecular diagnosis in acute myeloid leukemia patients is possible: the PETHEMA NGS-AML project

M. Tormo, M. González-Díaz, M. Calasanz, 2020, Haematologica.

Clinical, biological, and prognostic implications of SF3B1 co-occurrence mutations in very low/low- and intermediate-risk MDS patients

C. Robledo, E. Salido, M. Abáigar, 2021, Annals of Hematology.