Associated Papers
Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools.
Drost M et al.
Hgg Advances, 2026
40988334 (PubMed )
Supplement: mmc2.xlsx › Table_S1
Biallelic loss of function variants in FUZ result in an orofaciodigital syndrome.
Singh S et al.
European Journal of Human Genetics : Ejhg, 2024
Identification of a novel variant of the ciliopathic gene FUZZY associated with craniosynostosis.
Barrell WB et al.
European Journal of Human Genetics : Ejhg, 2022
YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress.
De Franco E et al.
The Journal of Clinical Investigation, 2020
33164986 (PubMed )
Supplement: jci-130-141455-s463.pdf
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