Gathering and Managing Genotype and Phenotype Information about Rare Diseases Patients. - Rafael Mendonça; Pedro Lopes 002; Hugo Rocha; Jorge Oliveira 003; Laura Vilarinho; Rosário Santos; José Luís Oliveira (HEALTHINF, 2012)

A Rare Disease Patient Manager. - Pedro Lopes 002; Rafael Mendonça; Hugo Rocha; Jorge Oliveira 003; Laura Vilarinho; Rosário Santos; José Luís Oliveira (PACBB, 2012)

Homozygosity Mapping using Whole-Exome Sequencing: A Valuable Approach for Pathogenic Variant Identification in Genetic Diseases. - Jorge Oliveira 003; Rute Pereira; Rosário Santos; Mário Sousa (BIOINFORMATICS, 2017)

Evaluating Runs of Homozygosity in Exome Sequencing Data - Utility in Disease Inheritance Model Selection and Variant Filtering. - Jorge Oliveira 003; Rute Pereira; Rosário Santos; Mário Sousa (BIOSTEC (Selected Papers), 2017)