STAG2

Publications

Aoi H et al. Nonsense variants of STAG2 result in distinct congenital anomalies. Hum Genome Var. 2020;7:26. PMID: 33014403.

Cratsenberg DM et al. Second reported individual with a partial STAG2 deletion: middle interhemispheric variant holoprosencephaly in STAG2-related cohesinopathy. Clin Dysmorphol. 2021;30(3):159-163. doi: 10.1097/MCD.0000000000000367. PMID: 33758131.

Kruszka P et al. Cohesin complex-associated holoprosencephaly. Brain. 2019;142(9):2631-2643. PMID: 31334757.

Leroy C et al. Xq25 duplication: the crucial role of the STAG2 gene in this novel human cohesinopathy. Clin Genet. 2016;89(1):68-73. PMID: 25677961.

Mullegama SV et al. De novo loss-of-function variants in STAG2 are associated with developmental delay, microcephaly, and congenital anomalies. Am J Med Genet A. 2017;173(5):1319-1327. PMID: 28296084.

Mullegama SV et al. Mutations in STAG2 cause an X-linked cohesinopathy associated with undergrowth, developmental delay, and dysmorphia: Expanding the phenotype in males. Mol Genet Genomic Med. 2019;7(2):e00501. PMID: 30447054.

Phillippe A et al. X25 duplications encompassing GRIA3 and STAG2 genes in two families convey recognizable X-linked intellectual disability with distinctive facial appearance. Am J Med Genet A. 2013;161:1370-1375. PMID: 23637084.

Piché J et al. The expanding phenotypes of cohesinopathies: one ring to rule them all! Cell Cycle. 2019;18(21):2828-2848. PMID: 31516082.

Soardi FC et al. Familial STAG2 germline mutation defines a new human cohesinopathy. NPJ Genom Med. 2017; 20(2):7. PMID: 29263825.

Yingjun X et al. Microduplication of chromosome Xq25 encompassing STAG2 gene in a boy with intellectual disability. Eur J Med Genet. 2015;58(2):116-21. PMID: 25450604.