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
Reannotation of cancer mutations based on expressed RNA transcripts reveals functional non-coding mutations in melanoma.
Pepe D et al.
American Journal of Human Genetics, 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
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
Multiparametric Classification of Non-Muscle Invasive Papillary Urothelial Neoplasms: Combining Morphological, Phenotypical, and Molecular Features for Improved Risk Stratification.
Montes-Mojarro IA et al.
International Journal of Molecular Sciences, 2022
Atypical presentation of patients with chronic myeloid leukemia in chronic phase-Case report.
Ramdohr F 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
Analytical and Potential Clinical Performance of Oncomine Myeloid Research Assay for Myeloid Neoplasms.
Park J et al.
Molecular Diagnosis & Therapy, 2020
Comorbidity of congenital heart defects and holoprosencephaly is likely genetically driven and gene-specific.
Tekendo-Ngongang C et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020
Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.
Dong X et al.
Communications Biology, 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
Cohesin complex-associated holoprosencephaly.
Kruszka P et al.
Brain : a Journal of Neurology, 2019
Integrative genomic analysis of adult mixed phenotype acute leukemia delineates lineage associated molecular subtypes.
Takahashi K et al.
Nature Communications, 2018
Distinct evolution and dynamics of epigenetic and genetic heterogeneity in acute myeloid leukemia.
Li S et al.
Nature Medicine, 2016
Validation and Implementation of a Custom Next-Generation Sequencing Clinical Assay for Hematologic Malignancies.
Kluk MJ et al.
The Journal of Molecular Diagnostics : Jmd, 2016
The landscape of somatic mutations in Down syndrome-related myeloid disorders.
Yoshida K et al.
Nature Genetics, 2013