Mutations in the spliceosome machinery, a novel and ubiquitous pathway in leukemogenesis

Hideki Makishima, Valeria Visconte, Hirotoshi Sakaguchi, +11

Blood

Somatic SETBP1 mutations in myeloid malignancies

Hideki Makishima, Kenichi Yoshida, Nhu Nguyen, +27

Nature Genetics

Hematological MalignancyTumor BiologySomatic VariantMyeloid NeoplasiaPathology +3

Exome sequencing identifies secondary mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia

Hirotoshi Sakaguchi, Yusuke Okuno, Hideki Muramatsu, +19

Nature Genetics

Hematological MalignancyChromatinEngineeringMedicineGenetics +9

<i>MEF2D</i> - <i>BCL9</i> Fusion Gene Is Associated With High-Risk Acute B-Cell Precursor Lymphoblastic Leukemia in Adolescents

Kyogo Suzuki, Yusuke Okuno, Nozomu Kawashima, +19

Journal of Clinical Oncology

Genomic determinants of chronic myelomonocytic leukemia

Bhumika J. Patel, B Przychodzen, Swapna Thota, +18

Leukemia

Hematological MalignancyChromatinMixed-phenotype Acute LeukemiaGeneticsHematology +5

Integrated molecular profiling of juvenile myelomonocytic leukemia

Norihiro Murakami, Yusuke Okuno, Kenichi Yoshida, +23

Blood

Spliceosomal gene mutations are frequent events in the diverse mutational spectrum of chronic myelomonocytic leukemia but largely absent in juvenile myelomonocytic leukemia

Sarah Abu Kar, Ania Jankowska, Hirokazu Makishima, +15

Haematologica

Chronic Myelomonocytic LeukemiaSpliceosomal Gene MutationsMixed-phenotype Acute LeukemiaGeneticsPathology +14

Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes

Hideki Muramatsu, Yusuke Okuno, Kenichi Yoshida, +28

Genetics in Medicine

Hematological MalignancySequencingBone Marrow FailureClinical UtilityGenetics +7

Digenic mutations in <i>ALDH2</i> and <i>ADH5</i> impair formaldehyde clearance and cause a multisystem disorder, AMeD syndrome

Yasuyoshi Oka, Motoharu Hamada, Yuka Nakazawa, +38

Science Advances

Germline IKAROS mutation associated with primary immunodeficiency that progressed to T-cell acute lymphoblastic leukemia

Nao Yoshida, Hirotoshi Sakaguchi, Hideki Muramatsu, +13

Leukemia

Primary ImmunodeficiencyHematological MalignancyMixed-phenotype Acute LeukemiaImmunodeficienciesPathogenesis +9