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
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
Integrating Molecular Alterations with Immunophenotype and Clinical Characteristics in Myelodysplastic Syndromes: A Single-Center Study.
Majcherek M et al.
International Journal of Molecular Sciences, 2025
Age-dependent phenotypic and molecular evolution of pediatric MDS arising from GATA2 deficiency.
Kotmayer L et al.
Blood Cancer Journal, 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
PPM1D Mutation as a Distinct Feature of Myeloid Neoplasms in B-Cell Non-Hodgkin Lymphoma Patients: A Retrospective Analysis.
Kim H et al.
Cancers, 2025
An open-label, phase IB/II study of abemaciclib with paclitaxel for tumors with CDK4/6 pathway genomic alterations.
Kim KH et al.
Esmo Open, 2025
1q jumping translocation as a biomarker in myeloid malignancy: frequently mutated genes associated with bad prognosis and low survival.
Halper-Stromberg E et al.
Experimental Hematology & Oncology, 2024
Molecular and clinical analyses of PHF6 mutant myeloid neoplasia provide their pathogenesis and therapeutic targeting.
Kubota Y et al.
Nature Communications, 2024
Prevalence and clinical expression of germ line predisposition to myeloid neoplasms in adults with marrow hypocellularity.
Molteni E et al.
Blood, 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
Somatic genetic alterations predict hematological progression in GATA2 deficiency.
Largeaud L et al.
Haematologica, 2023
Molecular and clinical features of papillary thyroid cancer in adult patients with a non-classical phenotype.
Zhou J et al.
Frontiers in Endocrinology, 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
Identification of a novel HOOK3-FGFR1 fusion gene involved in activation of the NF-kappaB pathway.
Zhang X et al.
Cancer Cell International, 2022
Bile is a reliable and valuable source to study cfDNA in biliary tract cancers.
Li Z et al.
Frontiers in Oncology, 2022
Somatic mosaicism in STAG2-associated cohesinopathies: Expansion of the genotypic and phenotypic spectrum.
Schmidt J et al.
Frontiers in Cell and Developmental Biology, 2022
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
Distinct genomic profile in h. pylori-associated gastric cancer.
Zhang X et al.
Cancer Medicine, 2021
Integration of intra-sample contextual error modeling for improved detection of somatic mutations from deep sequencing.
Abelson S et al.
Science Advances, 2020
Genetic basis of myelodysplastic syndromes.
Ogawa S
Proceedings of the Japan Academy. Series B, Physical and Biological Sciences, 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
Cohesin complex-associated holoprosencephaly.
Kruszka P et al.
Brain : a Journal of Neurology, 2019
Molecular Profiling of Hard-to-Treat Childhood and Adolescent Cancers.
Khater F et al.
Jama Network Open, 2019
Clinical evaluation of panel testing by next-generation sequencing (NGS) for gene mutations in myeloid neoplasms.
Au CH et al.
Diagnostic Pathology, 2016
GATA2 and secondary mutations in familial myelodysplastic syndromes and pediatric myeloid malignancies.
Wang X et al.
Haematologica, 2015
Whole-genome and whole-exome sequencing of bladder cancer identifies frequent alterations in genes involved in sister chromatid cohesion and segregation.
Guo G et al.
Nature Genetics, 2013