Cooles F, Vidal-Pedrola G, Naamane N, Pratt A, Barron-Millar B, Anderson A, Hilkens C, Casement J, Bondet V, Duffy D, Zhang F, Shukla R, Isaacs J, Little M, Payne M, Coupe N, Fairfax B, Taylor CA, Mackay S, Milotay G, Bos S, Hunter B, Mcdonald D, Merces G, Sheldon Get al.(2024) Scientific Business Abstracts QJM(in press) DOI 10.1093/qjmed/hcae157, PubMed 39298287
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