Hynes C, Williams E, Misceo D, Strømme P, Frengen E, Kakumani PK (2025)
De novo CSDE1 missense variant T595N regulates miRNA expression in a patient with a complex neurodevelopmental condition
Biochim Biophys Acta Mol Basis Dis, 1872 (3), 168104 (in press)
DOI 10.1016/j.bbadis.2025.168104, PubMed 41207398

Misceo D, Terkelsen T, Bøen Keim SM, Bjørnstad PM, Strand ME, Orszagh VC, Jensen UB, Frengen E (2025)
CRISPR Activation Reveals the Spliceogenicity of an Intronic NEB Variant in Fetuses With Arthrogryposis Multiplex Congenita 6
Clin Genet (in press)
DOI 10.1111/cge.70097, PubMed 41186962

Ghaffar A, Akhter T, Strømme P, Misceo D, Khan A, Frengen E, Umair M, Isidor B, Cogné B, Khan AA, Bruel AL, Sorlin A, Kuentz P, Chiaverini C, Innes AM, Zech M, Baláž M, Havrankova P, Jech R, Ahmed ZM, Riazuddin S, Riazuddin S (2024)
Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephaly
Commun Biol, 7 (1), 831
DOI 10.1038/s42003-024-06466-1, PubMed 38977784