N. Gilani

A novel deletion variant in CLN3 with highly variable expressivity is responsible for juvenile neuronal ceroid lipofuscinoses

M. Garshasbi, M. Ozaslan, E. Razmara, 2021, Acta Neurologica Belgica.

Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen storage-associated mitochondriopathy.

Fernanda L. Sirota, J. Lupski, J. Casanova, 2021, American journal of human genetics.

Association of a point mutation (m.9176T>G) of the MT-ATP6 gene with Leigh syndrome: A case report

K. Saadat, M. Ozaslan, A. Monfaredan, 2020 .

A disorder clinically resembling cystic fibrosis caused by biallelic variants in the AGR2 gene

N. Ameziane, H. Venselaar, A. Bertoli-Avella, 2021, Journal of Medical Genetics.

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

M. Garshasbi, M. Ozaslan, Fatemeh Bitarafan, 2024, Molecular genetics & genomic medicine.