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
A novel NMD-escaping STAG2 variant associated with syndromic neurodevelopmental delay, growth failure, and distinctive dysmorphism: expanding the phenotype in male patients and literature review.
Ahmad F et al.
Gene, 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
The IKZF1 N159S mutation is associated with poor outcome and a distinct molecular profile in adult patients with AML.
Stasik S et al.
British Journal of Haematology, 2025
40041934 (PubMed )
Supplement: BJH-206-1373-s001.zip › BJH20027-sup-0001-Supplementary-Material.docx
STAG2: Computational Analysis of Missense Variants Involved in Disease.
Ros-Pardo D et al.
International Journal of Molecular Sciences, 2024
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
Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.
Yuan B et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
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