Misceo D, Terkelsen T, Bøen 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
Gorjizadeh N, Gorjizadeh N, Bitarafan F, Mohammadi-Sarband M, Garshasbi M(2025) Identification of a Novel Homozygous C1QB Mutation in an Iranian Girl: Expanding the Clinical Spectrum of C1q Deficiency Int J Immunogenet, e12717(in press) DOI 10.1111/iji.12717, PubMed 40506420
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