Mazhor Aldosary

Hematological findings associated with tubulin‐folding cofactors D‐related encephalopathy: Expanding the phenotype

N. Kaya, D. Çolak, D. Monies, 2021, Clinical genetics.

Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases

K. Kandaswamy, E. Aronica, P. Bauer, 2019, bioRxiv.

A Novel Homozygous Founder Variant of RTN4IP1 in Two Consanguineous Saudi Families

S. Arold, N. Kaya, D. Çolak, 2022, Cells.

SLC25A42‐associated mitochondrial encephalomyopathy: Report of additional founder cases and functional characterization of a novel deletion

Robert W. Taylor, N. Kaya, D. Çolak, 2021, JIMD reports.

Molecular and clinical spectra of FBXL4 deficiency

W. Chan, H. Prokisch, F. Alkuraya, 2017, Human mutation.

KCNA4 deficiency leads to a syndrome of abnormal striatum, congenital cataract and intellectual disability

N. Kaya, D. Çolak, M. D’Adamo, 2016, Journal of Medical Genetics.