Associated Papers
A novel missense variant at the site of interaction between RLIM and E2 ubiquitin-conjugating enzymes causes Tønne-Kalscheuer syndrome.
Siavrienė E et al.
Bmc Pediatrics, 2025
RLIM-specific activity reporters define variant pathogenicity in Tonne-Kalscheuer syndrome.
Bandi V et al.
Hgg Advances, 2025
Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project.
Stenton SL et al.
Human Genomics, 2024
38685113 (PubMed )
Supplement: 40246_2024_604_MOESM1_ESM.xlsx › Table_S1
Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project.
Stenton SL et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
37577678 (PubMed )
Supplement: media-1.xlsx › Table_S1
Activity-based probe profiling of RNF12 E3 ubiquitin ligase function in Tonne-Kalscheuer syndrome.
Bustos F et al.
Life Science Alliance, 2022
Sequential stabilization of RNF220 by RLIM and ZC4H2 during cerebellum development and Shh-group medulloblastoma progression.
Li Y et al.
Journal of Molecular Cell Biology, 2022
RNF12 X-Linked Intellectual Disability Mutations Disrupt E3 Ligase Activity and Neural Differentiation.
Bustos F et al.
Cell Reports, 2018
X chromosome dosage and presence of SRY shape sex-specific differences in DNA methylation at an autosomal region in human cells.
Ho B et al.
Biology of Sex Differences, 2018
A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.
George AJ et al.
Frontiers in Genetics, 2018
29491882 (PubMed )
Supplement: Table1.xlsx › Sheet1
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.
Hu H et al.
Molecular Psychiatry, 2016
25644381 (PubMed )
Supplement: mp2014193x1.pdf
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