Kamila Janusz

Salamanca, CL, Spain

Last Updated: 09/26/2026

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Found 12 publications

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

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

Journal: Haematologica

Published: June 24, 2020

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

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

Journal: Annals of hematology

Published: June 03, 2020

Molecular Diagnosis of Inherited Coagulation and Bleeding Disorders.

Molecular Diagnosis of Inherited Coagulation and Bleeding Disorders.

Journal: Seminars in thrombosis and hemostasis

Published: May 02, 2019

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

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

Journal: Annals of medicine

Published: April 17, 2019

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

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

Journal: Annals of hematology

Published: December 26, 2018

Sitosterolemia: Diagnosis, Metabolic and Hematological Abnormalities, Cardiovascular Disease and Management.

Sitosterolemia: Diagnosis, Metabolic and Hematological Abnormalities, Cardiovascular Disease and Management.

Journal: Current medicinal chemistry

Published: February 16, 2018

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

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

Journal: Journal of thrombosis and haemostasis : JTH

Published: May 02, 2017

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

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

Journal: Haematologica

Published: April 20, 2017

Wiskott-Aldrich syndrome in a child presenting with macrothrombocytopenia.

Wiskott-Aldrich syndrome in a child presenting with macrothrombocytopenia.

Journal: Platelets

Published: November 26, 2016

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

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

Journal: Leukemia research

Published: November 15, 2016

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

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

Journal: Thrombosis and haemostasis

Published: May 15, 2016

Deregulation of genes related to iron and mitochondrial metabolism in refractory anemia with ring sideroblasts.

Deregulation of genes related to iron and mitochondrial metabolism in refractory anemia with ring sideroblasts.

Journal: PloS one

Published: November 18, 2014

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Last Updated: 09/26/2026