Associated Papers
Association of ASXL1 and RUNX1 Variants with Splenomegaly in Myelodysplastic Syndromes Based on Next-generation Sequencing and Computed Tomography Data: A Retrospective Study.
Huh Y et al.
Annals of Laboratory Medicine, 2026
STAG2-truncating variants reveal a mosaic STAG2 inactivation pattern and compensatory mechanisms involving cohesin complex remodeling.
Moronta Gines M et al.
Iscience, 2025
Fusion oncoproteins and cooperating mutations define disease phenotypes in NUP98-rearranged leukemia.
Umeda M et al.
Blood, 2025
A molecular and immunohistochemical study of 37 cases of ovarian Sertoli-Leydig cell tumor.
Němejcová K et al.
Virchows Archiv : an International Journal of Pathology, 2025
A Comprehensive Guide to Achieving New York State Clinical Laboratory Evaluation Program Approval for Next-Generation Sequencing Assays.
Galbo PM et al.
The Journal of Molecular Diagnostics : Jmd, 2025
Impact of myelodysplasia-related gene mutations and residual mutations at remission in venetoclax/azacitidine for AML.
Ikoma Y et al.
Leukemia, 2025
Diagnostic and prognostic genomic aberrations in upper tract urothelial carcinoma can be identified in focal barbotage samples.
Axelsson TA et al.
Bju International, 2025
Blast phase of chronic myeloid leukemia presenting as early T-cell precursor acute lymphoblastic leukemia.
E S et al.
American Journal of Clinical Pathology, 2025
Fusion oncoproteins and cooperating mutations define disease phenotypes in NUP98-rearranged leukemia.
Umeda M et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Whole Exome Sequencing of Intermediate-Risk Acute Myeloid Leukemia without Recurrent Genetic Abnormalities Offers Deeper Insights into New Diagnostic Classifications.
Guijarro F et al.
International Journal of Molecular Sciences, 2024
Molecular and clinical analyses of PHF6 mutant myeloid neoplasia provide their pathogenesis and therapeutic targeting.
Kubota Y et al.
Nature Communications, 2024
Interaction between myelodysplasia-related gene mutations and ontogeny in acute myeloid leukemia.
McCarter JGW et al.
Blood Advances, 2023
Mutational Profile Enables the Identification of a High-Risk Subgroup in Myelodysplastic Syndromes with Isolated Trisomy 8.
Toribio-Castelló S et al.
Cancers, 2023
Postazacitidine clone size predicts long-term outcome of patients with myelodysplastic syndromes and related myeloid neoplasms.
Nannya Y et al.
Blood Advances, 2023
Patient-Derived iPSCs Faithfully Represent the Genetic Diversity and Cellular Architecture of Human Acute Myeloid Leukemia.
Kotini AG et al.
Blood Cancer Discovery, 2023
Compartment-specific mutational landscape of clonal hematopoiesis.
Hartmann L et al.
Leukemia, 2022
Pathophysiologic and clinical implications of molecular profiles resultant from deletion 5q.
Adema V et al.
Ebiomedicine, 2022
SmMIP-tools: a computational toolset for processing and analysis of single-molecule molecular inversion probes-derived data.
Medeiros JJF et al.
Bioinformatics (oxford, England), 2022
Expanding the known phenotype of Mullegama-Klein-Martinez syndrome in male patients.
Freyberger F et al.
Human Genome Variation, 2021
Genomic alterations in patients with somatic loss of the Y chromosome as the sole cytogenetic finding in bone marrow cells.
Ouseph MM et al.
Haematologica, 2021
Cohesin mutations are synthetic lethal with stimulation of WNT signaling.
Chin CV et al.
Elife, 2020
Likely damaging de novo variants in congenital diaphragmatic hernia patients are associated with worse clinical outcomes.
Qiao L et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Follicular Thyroid Neoplasms: Comparison of Clinicopathologic and Molecular Features of Atypical Adenomas and Follicular Thyroid Carcinomas.
Cracolici V et al.
The American Journal of Surgical Pathology, 2020
Nonsense variants of STAG2 result in distinct congenital anomalies.
Aoi H et al.
Human Genome Variation, 2020
Invariant patterns of clonal succession determine specific clinical features of myelodysplastic syndromes.
Nagata Y et al.
Nature Communications, 2019
Coordinated alterations in RNA splicing and epigenetic regulation drive leukaemogenesis.
Yoshimi A et al.
Nature, 2019
Germline Predisposition to Hematolymphoid Neoplasia.
Weinberg OK et al.
American Journal of Clinical Pathology, 2019
Nonsense variants in STAG2 result in distinct sex-dependent phenotypes.
Aoi H et al.
Journal of Human Genetics, 2019
De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders.
Qi H et al.
Plos Genetics, 2018
Distinct age-associated molecular profiles in acute myeloid leukemia defined by comprehensive clinical genomic profiling.
Tarlock K et al.
Oncotarget, 2018
Genome-wide enrichment of damaging de novo variants in patients with isolated and complex congenital diaphragmatic hernia.
Longoni M et al.
Human Genetics, 2017
ASXL2 mutations are frequently found in pediatric AML patients with t(8;21)/ RUNX1-RUNX1T1 and associated with a better prognosis.
Yamato G et al.
Genes, Chromosomes & Cancer, 2017
Whole-exome sequencing reveals the spectrum of gene mutations and the clonal evolution patterns in paediatric acute myeloid leukaemia.
Shiba N et al.
British Journal of Haematology, 2016
Landscape of somatic mutations in 560 breast cancer whole-genome sequences.
Nik-Zainal S et al.
Nature, 2016
Cohesin loss alters adult hematopoietic stem cell homeostasis, leading to myeloproliferative neoplasms.
Mullenders J et al.
The Journal of Experimental Medicine, 2015
Increased burden of de novo predicted deleterious variants in complex congenital diaphragmatic hernia.
Yu L et al.
Human Molecular Genetics, 2015
The genomic landscape of pediatric Ewing sarcoma.
Crompton BD et al.
Cancer Discovery, 2014
Recurrent inactivation of STAG2 in bladder cancer is not associated with aneuploidy.
Balbás-Martínez C et al.
Nature Genetics, 2013