A. F. A. D. Silva

A novel in-frame deletion affecting the BAR domain of OPHN1 in a family with intellectual disability and hippocampal alterations

M. Ribeiro, E. Medina-Acosta, C. Santos-Rebouças, 2013, European Journal of Human Genetics.

Novel microduplications at Xp11.22 including HUWE1: clinical and molecular insights into these genomic rearrangements associated with intellectual disability

Jussara Mendonça dos Santos, M. Ribeiro, E. Medina-Acosta, 2015, Journal of Human Genetics.

Haplotype analysis of the CAG and CCG repeats in 21 Brazilian families with Huntington’s disease

P. Cabello, E. Medina-Acosta, R. Alvarenga, 2012, Journal of Human Genetics.