Aisha Al-Khayat

Loss of PCLO function underlies pontocerebellar hypoplasia type III

M. Hurles, C. Walsh, M. Patton, 2015, Neurology.

TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia

Jacob O Day, R. Maroofian, H. Houlden, 2022, Brain : a journal of neurology.

Human β-Mannosidase cDNA Characterization and First Identification of a Mutation Associated with Human β-Mannosidosis

M. Macek, W. Kleijer, K. Friderici, 1998 .

PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment

J. Lupski, M. Simpson, M. Patton, 2017, Brain : a journal of neurology.

A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis

M. Patton, A. Cazenave-Gassiot, M. Wenk, 2017, Brain : a journal of neurology.

Absence of deafness‐associated connexin‐26 (GJB2) gene mutations in the Omani population

M. Simsek, Talal Al-Bulushi, Muralitharan Shanmugakonar, 2001, Human mutation.