Pavinato, Lisa

Rare coding variation provides insight into the genetic architecture and phenotypic context of autism

Fu, J. M., Satterstrom, F. K., Peng, M., Brand, H., Collins, R. L., Dong, S., Wamsley, B., Klei, L., Wang, L., Hao, S. P., et al. (2022) · Nature Genetics

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 640

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

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

Genetic Neurodegenerative DiseasesHereditary Neurological Disorders

Cited by 9

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