Sebastiano, Matteo Rossi

Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype

Hiatt, S. M., Trajkova, S., Sebastiano, M. R., Partridge, E. C., Abidi, F. E., Anderson, A., Ansar, M., Antonarakis, S. E., Azadi, A., Bachmann-Gagescu, R., et al. (2023) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 21

Spinocerebellar ataxia 38: structure-function analysis shows ELOVL5 G230V is proteotoxic, conformationally altered and a mutational hotspot

Ferrero, E., Gregorio, E. D., Ferrero, M., Ortolan, E., Moon, Y.-A., Campli, A. D., Pavinato, L., Mancini, C., Tripathy, D., Manes, M., et al. (2023) · Human Genetics

Genetic Neurodegenerative DiseasesHereditary Neurological Disorders

Cited by 9