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
STAG2: Computational Analysis of Missense Variants Involved in Disease.
Ros-Pardo D et al.
International Journal of Molecular Sciences, 2024
NTRK fusion positive colorectal cancer is a unique subset of CRC with high TMB and microsatellite instability.
Wang H et al.
Cancer Medicine, 2022
35506567 (PubMed )
Supplement: CAM4-11-2541-s004.pdf
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
Second reported individual with a partial STAG2 deletion: middle interhemispheric variant holoprosencephaly in STAG2-related cohesinopathy.
Cratsenberg DM et al.
Clinical Dysmorphology, 2021
Nonsense variants of STAG2 result in distinct congenital anomalies.
Aoi H et al.
Human Genome Variation, 2020
Nonsense variants in STAG2 result in distinct sex-dependent phenotypes.
Aoi H et al.
Journal of Human Genetics, 2019
Mutations in STAG2 cause an X-linked cohesinopathy associated with undergrowth, developmental delay, and dysmorphia: Expanding the phenotype in males.
Mullegama SV et al.
Molecular Genetics & Genomic Medicine, 2019
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