RLIM

Publications

Hu H et al. X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes. Mol Psychiatry. 2016 Jan;21(1):133-48. doi: 10.1038/mp.2014.193. Epub 2015 Feb 3. PMID: 25644381

Tønne E et al. Syndromic X-linked intellectual disability segregating with a missense variant in RLIM. Eur J Hum Genet. 2015;23(12):1652-6. doi: 10.1038/ejhg.2015.30. Epub 2015 Mar 4. PMID: 25735484

Frints SGM et al. Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder. Mol Psychiatry. 2019;24(11):1748-1768. doi: 10.1038/s41380-018-0065-x. Epub 2018 May 4. PMID: 29728705.

Bustos F et al. RNF12 X-Linked Intellectual Disability Mutations Disrupt E3 Ligase Activity and Neural Differentiation. Cell Rep. 2018;23(6):1599-1611. doi: 10.1016/j.celrep.2018.04.022. PMID: 29742418

Bustos F et al. A novel RLIM/RNF12 variant disrupts protein stability and function to cause severe Tonne-Kalscheuer syndrome. Sci Rep. 2021;11(1):9560. doi: 10.1038/s41598-021-88911-3. PMID: 33953269

Bandi V et al. RLIM-specific activity reporters define variant pathogenicity in Tonne-Kalscheuer syndrome. HGG Adv. 2024;6(1):100378. doi: 10.1016/j.xhgg.2024.100378. Epub ahead of print. PMID: 39482882