Marina de França

Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy

H. Mefford, A. Paetau, P. Striano, 2022, Brain : a journal of neurology.

Genomic study of nonsyndromic hearing loss in unaffected individuals: Frequency of pathogenic and likely pathogenic variants in a Brazilian cohort of 2,097 genomes

M. Cervato, R. Guedes, Tatiana Ferreira de Almeida, 2022, Frontiers in Genetics.