Publications
Cerebral visual impairment and intellectual disability caused by PGAP1 variants. Eur J Hum Genet 23, 1689-93 (2015).
An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS. Genes (Basel) 8, (2017).
Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa. PLoS Genet 14, e1007504 (2018).
Oral therapy for riboflavin transporter deficiency - What is the regimen of choice?. Parkinsonism Relat Disord 61, 245-247 (2019).