QRICH1

Publications

Baruch Y et al. A case of Ververi-Brady syndrome due to QRICH1 loss of function and the literature review. Am J Med Genet A. 2021;185(6):1913-1917. PMID: 33738978

Föhrenbach M et al. QRICH1 variants in Ververi-Brady syndrome-delineation of the genotypic and phenotypic spectrum. Clin Genet. 2021;99(1):199-207. PMID: 33009816

Lui JC et al. QRICH1 mutations cause a chondrodysplasia with developmental delay. J. Clin Genet. 2019;95(1):160-164. PMID: 30281152

Ververi A et al. Phenotypic spectrum associated with de novo mutations in QRICH1 gene. Clin Genet. 2018;93(2):286-292. PMID: 28692176

You K et al. QRICH1 dictates the outcome of ER stress through transcriptional control of proteostasis. Science. 2021;371(6524):eabb6896. doi: 10.1126/science.abb6896. PMID: 33384352