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
Misceo D, Strømme P, Bitarafan F, Chawla MS, Sheng Y, Bach de Courtade SM, Eide L, Frengen E(2024) Biallelic NDUFA4 Deletion Causes Mitochondrial Complex IV Deficiency in a Patient with Leigh Syndrome Genes (Basel), 15(4) DOI 10.3390/genes15040500, PubMed 38674434
Misceo D, Senaratne LDS, Mero IL, Sundaram AYM, Bjørnstad PM, Szczałuba K, Gasperowicz P, Kamien B, Nedregaard B, Holmgren A, Strømme P, Frengen E(2023) Novel Loss of Function Variants in CENPF Including a Large Intragenic Deletion in Patients with Strømme Syndrome Genes (Basel), 14(11) DOI 10.3390/genes14111985, PubMed 38002928