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List of works by Kenichi Yoshida

A female patient with incomplete hemophagocytic lymphohistiocytosis caused by a heterozygous XIAP mutation associated with non-random X-chromosome inactivation skewed towards the wild-type XIAP allele.

scientific article published on 7 March 2015

A nonsense mutation of IDH1 in myelodysplastic syndromes and related disorders.

scientific article published on 21 October 2010

A novel genetic and morphologic phenotype of ARID2-mediated myelodysplasia

scientific article published on 3 November 2017

ACTN1 mutations cause congenital macrothrombocytopenia

scientific article

ALDH2 polymorphism in patients with Diamond-Blackfan anemia in Japan

scientific article published on 25 November 2015

ASXL2 mutations are frequently found in pediatric AML patients with t(8;21)/ RUNX1-RUNX1T1 and associated with a better prognosis.

scientific article published on 7 January 2017

Aberrant DNA Methylation Is Associated with a Poor Outcome in Juvenile Myelomonocytic Leukemia

scientific article published on 31 December 2015

Aberrant PD-L1 expression through 3'-UTR disruption in multiple cancers.

scientific article published on 23 May 2016

Abnormal hematopoiesis and autoimmunity in human subjects with germline IKZF1 mutations

scientific article published in December 2016

Acquired initiating mutations in early hematopoietic cells of CLL patients

scientific article

Activation of RHOA-VAV1 signaling in angioimmunoblastic T-cell lymphoma.

scientific article

Acute megakaryoblastic leukemia with acquired trisomy 21 and GATA1 mutations in phenotypically normal children

scientific article published on 30 September 2014

Adverse prognostic effect of homozygous TET2 mutation on the relapse risk of acute myeloid leukemia in patients of normal karyotype.

scientific article published on 4 June 2015

Aggressive transformation of anaplastic large cell lymphoma with increased number of ALK-translocated chromosomes.

scientific article published on 22 November 2014

An empirical Bayesian framework for somatic mutation detection from cancer genome sequencing data

scientific article

Array CGH identifies copy number changes in 11% of 520 MDS patients with normal karyotype and uncovers prognostically relevant deletions

scientific article published on 22 September 2015

Atypical dyskeratosis congenita diagnosed using whole-exome sequencing.

scientific article

Autologous Induced Stem-Cell-Derived Retinal Cells for Macular Degeneration.

scientific article

Autonomous feedback loop of RUNX1-p53-CBFB in acute myeloid leukemia cells

scientific article published on 30 November 2017

BCL6 locus is hypermethylated in angioimmunoblastic T-cell lymphoma

scientific article published on 5 December 2016

BCOR and BCORL1 mutations in myelodysplastic syndromes and related disorders.

scientific article

BRCC3 mutations in myeloid neoplasms

scientific article published on 22 May 2015

Biallelic DICER1 mutations in sporadic pleuropulmonary blastoma

scientific article published on 27 March 2014

Bullous exudative retinal detachment due to infiltration of leukemic cells in a child with acute lymphoblastic leukemia.

scientific article published on 14 September 2010

Clinical and genetic characteristics of congenital sideroblastic anemia: comparison with myelodysplastic syndrome with ring sideroblast (MDS-RS) ⬇️

scientific article published on September 16, 2012

Clinical and genetic features of dyskeratosis congenita, cryptic dyskeratosis congenita, and Hoyeraal-Hreidarsson syndrome in Japan

scientific article published on 2 September 2015

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

scientific article published on 19 January 2017

Clonal dynamics in a single AML case tracked for 9 years reveals the complexity of leukemia progression.

scientific article

Clonal evolution in myelodysplastic syndromes

scientific article

Clonal selection in xenografted TAM recapitulates the evolutionary process of myeloid leukemia in Down syndrome

scientific article published on 12 March 2013

Common Variable Immunodeficiency Caused by FANC Mutations

scientific article

Comprehensive mutational analysis of primary and relapse acute promyelocytic leukemia

scientific article published on 07 October 2016

Comprehensive mutational analysis of primary and relapse acute promyelocytic leukemia.

scientific article published on 11 April 2016

Constitutional abnormalities of IDH1 combined with secondary mutations predispose a patient with Maffucci syndrome to acute lymphoblastic leukemia.

scientific article published on 24 May 2017

Deep sequencing in cancer research.

scientific article published on 05 December 2012

Deep sequencing reveals stepwise mutation acquisition in paroxysmal nocturnal hemoglobinuria.

scientific article

Detection of the G17V RHOA mutation in angioimmunoblastic T-cell lymphoma and related lymphomas using quantitative allele-specific PCR.

scientific article

Diagnostic challenge of Diamond-Blackfan anemia in mothers and children by whole-exome sequencing.

scientific article published on 23 November 2016

Donor cell-derived transient abnormal myelopoiesis as a specific complication of umbilical cord blood transplantation.

scientific article

Dynamics of clonal evolution in myelodysplastic syndromes

scientific article

Dysregulation of Epstein-Barr Virus Infection in Hypomorphic ZAP70 Mutation

scientific article published on 01 July 2018

Early detection and evolution of pre-leukemic clones in therapy-related myeloid neoplasms following autologous SCT.

scientific article

Exome sequencing identified RPS15A as a novel causative gene for Diamond-Blackfan anemia

scientific article published on December 2016

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

scientific article

Frequent NFKBIE deletions are associated with poor outcome in primary mediastinal B-cell lymphoma

scientific article published on 26 September 2016

Frequent pathway mutations of splicing machinery in myelodysplasia

scientific article (publication date: 11 September 2011)

Frequent somatic mutations in epigenetic regulators in newly diagnosed chronic myeloid leukemia

scientific article

Functional characterization of a novel GFI1B mutation causing congenital macrothrombocytopenia

scientific article

Fusion partner-specific mutation profiles and KRAS mutations as adverse prognostic factors in MLL-rearranged AML

scientific article published on 01 October 2020

GATA2 and secondary mutations in familial myelodysplastic syndromes and pediatric myeloid malignancies.

scientific article published on 28 May 2015

Gene expression and risk of leukemic transformation in myelodysplasia

scientific article

Genetic abnormalities in myelodysplasia and secondary acute myeloid leukemia: impact on outcome of stem cell transplantation

scientific article

Genetic and clinical landscape of breast cancers with germline BRCA1/2 variants

scientific article published on 16 October 2020

Genetic basis of myeloid transformation in familial platelet disorder/acute myeloid leukemia patients with haploinsufficient RUNX1 allele

scientific article published on 5 February 2016

Genetic heterogeneity of uncharacterized childhood autoimmune diseases with lymphoproliferation.

scientific article published on 29 September 2017

Genomic analysis of clonal origin of Langerhans cell histiocytosis following acute lymphoblastic leukaemia

scientific article published on 5 November 2015

Genomic landscape of liposarcoma.

scientific article published on 4 December 2015

Genomon ITDetector: a tool for somatic internal tandem duplication detection from cancer genome sequencing data.

scientific article

Haploinsufficiency of Sf3b1 leads to compromised stem cell function but not to myelodysplasia

scientific article published on 18 February 2014

Haploinsufficiency of TNFAIP3 (A20) by germline mutation is involved in autoimmune lymphoproliferative syndrome

scientific article published on 11 November 2016

Hematopoietic lineage distribution and evolutionary dynamics of clonal hematopoiesis

scientific article published in March 2018

Hidden FLT3-D835Y clone in FLT3-ITD-positive acute myeloid leukemia that evolved into very late relapse with T-lymphoblastic leukemia

scientific article published on 03 October 2017

Hypoxic adaptation of leukemic cells infiltrating the CNS affords a therapeutic strategy targeting VEGFA.

scientific article

Identification of a homozygous JAK3 V674A mutation caused by acquired uniparental disomy in a relapsed early T-cell precursor ALL patient.

scientific article published on 28 November 2014

Identification of cell-type-specific mutations in nodal T-cell lymphomas.

scientific article

Identification of the genetic and clinical characteristics of neuroblastomas using genome-wide analysis

scientific article published on 18 November 2017

Inherited and Somatic Defects in DDX41 in Myeloid Neoplasms

scientific journal article

Integrated Multiregional Analysis Proposing a New Model of Colorectal Cancer Evolution

scientific article

Integrated genetic and epigenetic analysis defines novel molecular subgroups in rhabdomyosarcoma

scientific article published on 3 July 2015

Integrated molecular analysis of adult T cell leukemia/lymphoma.

scientific article published on 5 October 2015

Integrated molecular analysis of clear-cell renal cell carcinoma

scientific article

Integrated molecular profiling of juvenile myelomonocytic leukemia.

scientific article published on 2 February 2018

Landscape of genetic lesions in 944 patients with myelodysplastic syndromes

scientific article

Late-Onset Combined Immunodeficiency with a Novel IL2RG Mutation and Probable Revertant Somatic Mosaicism.

scientific article published on 26 September 2015

Long-term outcome of 6-month maintenance chemotherapy for acute lymphoblastic leukemia in children

scientific article published on 4 October 2016

Loss of function mutations in RPL27 and RPS27 identified by whole-exome sequencing in Diamond-Blackfan anaemia.

scientific article

Molecular heterogeneity in peripheral T-cell lymphoma, not otherwise specified revealed by comprehensive genetic profiling

scientific article published on 15 May 2019

Molecular studies reveal MLL-MLLT10/AF10 and ARID5B-MLL gene fusions displaced in a case of infantile acute lymphoblastic leukemia with complex karyotype

scientific article published on 20 June 2017

Mutation allele burden remains unchanged in chronic myelomonocytic leukaemia responding to hypomethylating agents

scientific article published on 24 February 2016

Mutational landscape and clonal architecture in grade II and III gliomas

scientific article published on 13 April 2015

Mutations in the gene encoding the E2 conjugating enzyme UBE2T cause Fanconi anemia

scientific article published on June 2015

Normal neutrophil myosin IIA localization in an immunofluorescence analysis can rule out MYH9 disorders.

scientific article

Novel recurrent mutations in the RAS-like GTP-binding gene RIT1 in myeloid malignancies.

scientific article published on 14 June 2013

Novel splicing-factor mutations in juvenile myelomonocytic leukemia.

scientific article published on 20 February 2012

PIEZO1 gene mutation in a Japanese family with hereditary high phosphatidylcholine hemolytic anemia and hemochromatosis-induced diabetes mellitus

scientific article published on 14 March 2016

PRPF8 defects cause missplicing in myeloid malignancies.

scientific article

Phosphatase and tensin homolog (PTEN) mutation can cause activated phosphatidylinositol 3-kinase δ syndrome-like immunodeficiency

scientific article published on 29 June 2016

Physiological Srsf2 P95H expression causes impaired hematopoietic stem cell functions and aberrant RNA splicing in mice.

scientific article published on 16 November 2017

Profiling of somatic mutations in acute myeloid leukemia with FLT3-ITD at diagnosis and relapse

scientific article

Prognostic relevance of integrated genetic profiling in adult T-cell leukemia/lymphoma.

scientific article

RUNX1 mutations in pediatric acute myeloid leukemia are associated with distinct genetic features and an inferior prognosis

scientific article published on 14 March 2018

Recurrent SPI1 (PU.1) fusions in high-risk pediatric T cell acute lymphoblastic leukemia.

scientific article

Recurrent genetic defects on chromosome 5q in myeloid neoplasms.

scientific article published on 23 December 2016

Recurrent genetic defects on chromosome 7q in myeloid neoplasms

scientific article published on 16 January 2014

Recurrent mutations in multiple components of the cohesin complex in myeloid neoplasms

scientific article

Recurrent somatic mutations underlie corticotropin-independent Cushing's syndrome.

scientific article published on May 2014

Reduced TET2 function leads to T-cell lymphoma with follicular helper T-cell-like features in mice

scientific article published on 12 December 2014

Ring sideroblasts in AML are associated with adverse risk characteristics and have a distinct gene expression pattern

scientific article published on 01 October 2019

SRSF2 mutations in 275 cases with chronic myelomonocytic leukemia (CMML)

scientific article

Single cell genotyping of exome sequencing-identified mutations to characterize the clonal composition and evolution of inv(16) AML in a CBL mutated clonal hematopoiesis

scientific article published on 12 May 2016

Single-cell analysis based dissection of clonality in myelofibrosis

scientific article published on 07 January 2020

Somatic Mutations and Clonal Hematopoiesis in Aplastic Anemia

scientific article

Somatic PHF6 mutations in 1760 cases with various myeloid neoplasms

scientific article published on August 2016

Somatic RHOA mutation in angioimmunoblastic T cell lymphoma.

scientific article published on 12 January 2014

Somatic SETBP1 mutations in myeloid malignancies

scientific article published on 07 July 2013

Somatic mosaicism for a NRAS mutation associates with disparate clinical features in RAS-associated leukoproliferative disease: a report of two cases.

scientific article published on 21 April 2015

Somatic mosaicism in chronic myeloid leukemia in remission.

scientific article published on 26 October 2016

Splicing factor mutations and cancer

scientific article published on 12 February 2014

Sudden Intracranial Hemorrhage in a Patient With Atypical Chronic Myeloid Leukemia in Chronic Phase

scientific article published on 8 December 2017

TERT promoter mutations and chromosome 8p loss are characteristic of nonalcoholic fatty liver disease-related hepatocellular carcinoma

scientific article published on 11 August 2016

The E-Id Protein Axis Specifies Adaptive Lymphoid Cell Identity and Suppresses Thymic Innate Lymphoid Cell Development.

scientific article

The ex vivo production of ammonia predicts L-asparaginase biological activity in children with acute lymphoblastic leukemia.

scientific article published on 19 September 2009

The landscape of somatic mutations in Down syndrome-related myeloid disorders

scientific article

The phenotype and clinical course of Japanese Fanconi Anaemia infants is influenced by patient, but not maternal ALDH2 genotype.

scientific article published on 5 July 2016

Tracing the development of acute myeloid leukemia in CBL syndrome

scientific article published on 03 February 2014

Variant ALDH2 is associated with accelerated progression of bone marrow failure in Japanese Fanconi anemia patients.

scientific article

Variegated RHOA mutations in adult T-cell leukemia/lymphoma.

scientific article

Whole-exome sequence analysis of ataxia telangiectasia-like phenotype.

scientific article published on 4 March 2014

Whole-exome sequencing reveals the spectrum of gene mutations and the clonal evolution patterns in paediatric acute myeloid leukaemia.

scientific article published on 29 July 2016

[Bone marrow failure syndrome (idiopathic hematopoietic disorders): progress in diagnosis and treatment. Topics: IV. Recent topics of hematopoiesis; 1. Novel molecular mechanism of myelodysplastic syndromes]

scientific article published on 01 July 2012

[Genetic analysis of hereditary hematological disorders: overview]

scientific article published on 01 July 2015

[IDH1/2 gene mutations in myelodysplastic syndromes]

scientific article published on 01 April 2012

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