Associated Papers
A Novel Variant of STAG1 Gene and Literature Review.
Xie M et al.
Annals of Human Genetics, 2025
Neurological Disease Syndrome Caused by a STAG1 Gene Variant: A Case Report and Literature Review.
Zhang Q et al.
International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2025
A novel frameshift STAG1 variant exhibiting haploinsufficiency due to the nonsense-mediated mRNA decay: a case report and literature review.
Jiang C et al.
Frontiers in Pediatrics, 2025
Novel STAG1 Frameshift Mutation in a Patient Affected by a Syndromic Form of Neurodevelopmental Disorder.
Di Muro E et al.
Genes, 2021
Prioritized High-Confidence Risk Genes for Intellectual Disability Reveal Molecular Convergence During Brain Development.
Liu Z et al.
Frontiers in Genetics, 2018
30279698 (PubMed )
Supplement: Table_2.XLS › Sheet1
Exome Pool-Seq in neurodevelopmental disorders.
Popp B et al.
European Journal of Human Genetics : Ejhg, 2017
29158550 (PubMed )
Supplement: 41431_2017_22_MOESM3_ESM.xlsx › LancetAnalysis
STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability.
Lehalle D et al.
Journal of Medical Genetics, 2017
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