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
Evaluation of Long-Read Genome Sequencing for Genomic Profiling of Myeloid Cancers.
Abel HJ et al.
The Journal of Molecular Diagnostics : Jmd, 2025
Myeloid sarcoma shows a high frequency of mutations activating the MAPK/ERK pathway and association with clonal hematopoiesis.
Nann D et al.
The Journal of Pathology. Clinical Research, 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
Venetoclax is effective for chronic myelomonocytic leukemia blastic transformation with RUNX1 mutation.
Kashima E et al.
Hematology (amsterdam, Netherlands), 2024
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A et al.
Nature Genetics, 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
A rare case of aCML associated with CNS involvement and with aggressive clinical course.
Lame D et al.
Leukemia Research Reports, 2023
Compartment-specific mutational landscape of clonal hematopoiesis.
Hartmann L et al.
Leukemia, 2022
Unclassified white matter disorders: A diagnostic journey requiring close collaboration between clinical and laboratory services.
Stutterd CA et al.
European Journal of Medical Genetics, 2022
Genomic landscape of patients with FLT3-mutated acute myeloid leukemia (AML) treated within the CALGB 10603/RATIFY trial.
Jahn N et al.
Leukemia, 2022
Acquired somatic variants in inherited myeloid malignancies.
Armes H et al.
Leukemia, 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
Immunosuppression and outcomes in adult patients with de novo acute myeloid leukemia with normal karyotypes.
Ferraro F et al.
Proceedings of the National Academy of Sciences of the United States of America, 2021
Expanding the known phenotype of Mullegama-Klein-Martinez syndrome in male patients.
Freyberger F et al.
Human Genome Variation, 2021
Second reported individual with a partial STAG2 deletion: middle interhemispheric variant holoprosencephaly in STAG2-related cohesinopathy.
Cratsenberg DM et al.
Clinical Dysmorphology, 2021
Immune Checkpoint Inhibitors Plus Single-Agent Chemotherapy for Advanced Non-Small-Cell Lung Cancer After Resistance to EGFR-TKI.
Deng H et al.
Frontiers in Oncology, 2021
Integration of intra-sample contextual error modeling for improved detection of somatic mutations from deep sequencing.
Abelson S et al.
Science Advances, 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
Longitudinal sequencing of RUNX1 familial platelet disorder: new insights into genetic mechanisms of transformation to myeloid malignancies.
Duarte BKL et al.
British Journal of Haematology, 2019
Nonsense variants in STAG2 result in distinct sex-dependent phenotypes.
Aoi H et al.
Journal of Human Genetics, 2019
Targeted next generation sequencing can serve as an alternative to conventional tests in myeloid neoplasms.
Kim B et al.
Plos One, 2019
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