Items where authors include "Barakat, T.S."

Article

Fasham, J., Rankin, J., Schot, R. et al. (40 more authors) (2026) Palindrome-mediated 16p13.3 triplications cause a recognizable neurodegenerative disorder with ataxia. The American Journal of Human Genetics, 113 (1). pp. 221-233. ISSN 0002-9297

Quinodoz, M., Rodenburg, K., Cvackova, Z. et al. (185 more authors) (2026) De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa. Nature Genetics, 58. pp. 169-179. ISSN 1061-4036

Elkhateeb, N. orcid.org/0000-0002-3076-3178, Crookes, R., Spiller, M. et al. (68 more authors) (2025) Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder. Genetics in Medicine, 27 (3). 101348. ISSN 1098-3600