Thiago Oliveira Silva

Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia

J. Lupski, R. Gibbs, S. Jhangiani, 2022, Annals of neurology.

Novel AHDC1 Gene Mutation in a Brazilian Individual: Implications of Xia-Gibbs Syndrome

A. Bertoli-Avella, L. Schuler‐Faccini, Fabiano de Oliveira Poswar, 2020, Molecular Syndromology.

Imbalanced cellular metabolism compromises cartilage homeostasis and joint function in a mouse model of mucolipidosis type III gamma

J. Simon Wiegert, H. Clausen‐Schaumann, M. Schweizer, 2020, Disease Models & Mechanisms.