Publications

Lehalle D, et al.STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability.J Med Genet. 2017 Jul;54(7):479-488. PMID: 28119487.

Di Muro E, et al. Novel STAG1 Frameshift Mutation in a Patient Affected by a Syndromic Form of Neurodevelopmental Disorder.Genes (Basel). 2021 Jul 23;12(8):1116. PMID: 34440290.

Funato M, et al. Cohesinopathy presenting with microtia, facial palsy, and hearing loss caused by STAG1 pathogenic variant.Congenit Anom (Kyoto). 2022 Mar;62(2):82-83. PMID: 34914139.

Cipriano L, et al. A Novel De Novo STAG1 Variant in Monozygotic Twins with Neurodevelopmental Disorder: New Insights in Clinical Heterogeneity. Genes (Basel). 2024 Sep 9;15(9):1184. PMID: 39336775.

Bregvadze K, et al. A novel STAG1 variant associated with congenital clubfoot and microphthalmia: A case report.SAGE Open Med Case Rep. 2024 Aug 31;12:2050313X241277123. PMID: 39224759.

Zhang Q, et al. Neurological Disease Syndrome Caused by a STAG1 Gene Variant: A Case Report and Literature Review. Int J Dev Neurosci. 2025 Aug;85(5):e70030. PMID: 40625213.

Xie M, et al. A Novel Variant of STAG1 Gene and Literature Review.Ann Hum Genet. 2025 Sep 3. PMID: 40899458.

Șerban RC, et al. STAG1 Disease, Central Precocious Puberty, and Bone Fragility-A Case Report.Diagnostics (Basel). 2025 Apr 24;15(9):1076. PMID: 40361893.