Biblio
Distinct functions for the paralogous RBM41 and U11/U12-65K proteins in the minor spliceosome. Nucleic Acids Res. 2024.
. Long-term follow up of families with pathogenic NFKB1 variants reveals incomplete penetrance and frequent inflammatory sequelae. Clin Immunol. 2022:109181.
Loss-of-function variants in TBC1D32 underlie syndromic hypopituitarism. J Clin Endocrinol Metab. 2020.
Small mitochondrial protein NERCLIN regulates cardiolipin homeostasis and mitochondrial ultrastructure. Proc Natl Acad Sci U S A. 2023;120(30):e2210599120.