Publications
Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy. Am J Hum Genet. 2021 ;108(7):1301-1317.
. The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders. Brain. 2023 ;146(8):3273-3288.
. Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia. Ann Neurol. 2022 ;92(2):304-321.
. Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders. Brain. 2023 ;146(12):5031-5043.
. .