Bryant et al.Biallelic splicing variants in the nucleolar 60S assembly factor RBM28 cause the ribosomopathy ANE syndrome. Proc Natl Acad Sci U S A. 2021 May 11;118(19):e2017777118. PMID: 33941690.
McCann et al.The molecular basis for ANE syndrome revealed by the large ribosomal subunit processome interactome. Elife. 2016 Apr 14;5:e16381. PMID: 27077951.
Nousbeck et al.Alopecia, neurological defects, and endocrinopathy syndrome caused by decreased expression of RBM28, a nucleolar protein associated with ribosome biogenesis. Am J Hum Genet. 2008 May;82(5):1114-21. PMID: 18439547.