Emilia J. Kozyra

Clinical evolution, genetic landscape and trajectories of clonal hematopoiesis in SAMD9/SAMD9L syndromes

Sushree Sangita Sahoo, Victor B. Pastor, Charnise Goodings et al. · Nature Medicine · 2021 · 161 citations · Full text

Mutational landscape in children with myelodysplastic syndromes is distinct from adults: specific somatic drivers and novel germline variants

Victoria Pastor, Shinsuke Hirabayashi, Axel Karow et al. · Leukemia · 2016 · 84 citations

Specific Somatic Drivers, Somatic Variant, Mutational Landscape +10

GATA2 monoallelic expression underlies reduced penetrance in inherited GATA2-mutated MDS/AML

Ahad Al Seraihi, Ana Rio‐Machín, Kiran Tawana et al. · Leukemia · 2018 · 59 citations · Full text

Synonymous GATA2 mutations result in selective loss of mutated RNA and are common in patients with GATA2 deficiency

Emilia J. Kozyra, Victor B. Pastor, Stylianos Lefkopoulos et al. · Leukemia · 2020 · 48 citations · Full text

Hematopoietic stem cell transplantation in children and adolescents with GATA2-related myelodysplastic syndrome

Rachel Bortnick, Marcin W. Włodarski, Válerie de Haas et al. · Bone Marrow Transplantation · 2021 · 39 citations · Full text