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
Gilani N, Bitarafan F, Ozaslan M, Åsheim S, Heidari M, Garshasbi M(2024) Homozygous TREM2 c.549del; p.(Leu184Serfs*5) variant causing Nasu-Hakola disease in three siblings in a consanguineous Iraqi family: Case report and review of literature Mol Genet Genomic Med, 12(6), e2476 DOI 10.1002/mgg3.2476, PubMed 38888203
