Associated Papers
Novel variants in STAG2 and PKD1 associate with multiple congenital malformations and autosomal dominant polycystic kidney disease in a Chinese family: A case report and literature review.
Yang Q et al.
Experimental and Therapeutic Medicine, 2026
Tumor-suppressive activities of SA1/STAG2 and effects of PARP impairment during brain development.
Totaro S et al.
Disease Models & Mechanisms, 2026
Clinical experience of using integrated whole genome and transcriptome sequencing as a framework for pediatric and adolescent acute myeloid leukemia diagnosis and risk assessment.
Voss RK et al.
Leukemia, 2025
EWSR1-and FUS-rearranged acute leukemias: Clinicopathological and genomic characterization.
Nguyen VT et al.
Human Pathology, 2025
Panretinal Congenital Hypertrophy of the RPE in an 8-Year-Old Girl with an X-Linked STAG2 Mutation.
Kong MD et al.
Journal of Clinical Medicine, 2025
Impact of myelodysplasia-related gene mutations and residual mutations at remission in venetoclax/azacitidine for AML.
Ikoma Y et al.
Leukemia, 2025
Genomic subtypes of non-muscle-invasive bladder cancer: guiding immunotherapy decision-making for patients exposed to aristolochic acid.
Peng Y et al.
Molecular Medicine (cambridge, Mass.), 2025
Decoding the molecular landscape: HER2 and PD-L1 in advanced gastric cancer.
Yao J et al.
Frontiers in Immunology, 2025
Impact of cancer therapy on clonal hematopoiesis mutations and subsequent clinical outcomes.
Nead KT et al.
Blood Advances, 2024
Synthetic Lethality between Cohesin and WNT Signaling Pathways in Diverse Cancer Contexts.
Pallotta MM et al.
Cells, 2024
Molecular and clinical analyses of PHF6 mutant myeloid neoplasia provide their pathogenesis and therapeutic targeting.
Kubota Y et al.
Nature Communications, 2024
A new genomic framework to categorize pediatric acute myeloid leukemia.
Umeda M et al.
Nature Genetics, 2024
Postazacitidine clone size predicts long-term outcome of patients with myelodysplastic syndromes and related myeloid neoplasms.
Nannya Y et al.
Blood Advances, 2023
Somatic genetic alterations predict hematological progression in GATA2 deficiency.
Largeaud L et al.
Haematologica, 2023
Compartment-specific mutational landscape of clonal hematopoiesis.
Hartmann L et al.
Leukemia, 2022
RUNX1 mutations contribute to the progression of MDS due to disruption of antitumor cellular defense: a study on patients with lower-risk MDS.
Kaisrlikova M 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
Therapy-related myeloid neoplasms in 109 patients after radiation monotherapy.
Patel AA et al.
Blood Advances, 2021
Myeloid malignancies with translocation t(4;12)(q11-13;p13): molecular landscape, clonal hierarchy and clinical outcomes.
Parinet V et al.
Journal of Cellular and Molecular Medicine, 2021
Expanding the known phenotype of Mullegama-Klein-Martinez syndrome in male patients.
Freyberger F et al.
Human Genome Variation, 2021
The Mutational Landscape of Acute Myeloid Leukaemia Predicts Responses and Outcomes in Elderly Patients from the PETHEMA-FLUGAZA Phase 3 Clinical Trial.
Ayala R et al.
Cancers, 2021
Diagnosis and prognosis are supported by integrated assessment of next-generation sequencing in chronic myeloid malignancies. A real-life study.
Vantyghem S et al.
Haematologica, 2021
Prevalence and clinical implications of germline predisposition gene mutations in patients with acute myeloid leukemia.
Kim B et al.
Scientific Reports, 2020
Engraftment of rare, pathogenic donor hematopoietic mutations in unrelated hematopoietic stem cell transplantation.
Wong WH et al.
Science Translational Medicine, 2020
Nonsense variants of STAG2 result in distinct congenital anomalies.
Aoi H et al.
Human Genome Variation, 2020
Integration Analysis of JAK2 or RUNX1 Mutation With Bone Marrow Blast Can Improve Risk Stratification in the Patients With Lower Risk Myelodysplastic Syndrome.
Fang Y et al.
Frontiers in Oncology, 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
Cohesin complex-associated holoprosencephaly.
Kruszka P et al.
Brain : a Journal of Neurology, 2019
Distinct age-associated molecular profiles in acute myeloid leukemia defined by comprehensive clinical genomic profiling.
Tarlock K et al.
Oncotarget, 2018
Implications of mutational spectrum in myelodysplastic syndromes based on targeted next-generation sequencing.
Xu Y et al.
Oncotarget, 2017
Differential clonal evolution in oesophageal cancers in response to neo-adjuvant chemotherapy.
Findlay JM et al.
Nature Communications, 2016
Clinical evaluation of panel testing by next-generation sequencing (NGS) for gene mutations in myeloid neoplasms.
Au CH et al.
Diagnostic Pathology, 2016
The genomic landscape of the Ewing Sarcoma family of tumors reveals recurrent STAG2 mutation.
Brohl AS et al.
Plos Genetics, 2014
Frequent inactivating mutations of STAG2 in bladder cancer are associated with low tumour grade and stage and inversely related to chromosomal copy number changes.
Taylor CF et al.
Human Molecular Genetics, 2014
BCOR and BCORL1 mutations in myelodysplastic syndromes and related disorders.
Damm F et al.
Blood, 2013