Giovanni Zifarelli

Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity

R. Maroofian, R. Abou Jamra, G. Varshney, 2023, Genome Medicine.

Biallelic null variants in PNPLA8 cause microcephaly through the reduced abundance of basal radial glia

R. Maroofian, H. Houlden, S. Miyatake, 2023, medRxiv.