NeoScreen: A Software Application for MS/MS Newborn Screening Analysis. - Miguel Pinheiro; José Luís Oliveira; Manuel A. S. Santos; Hugo Rocha; M. Luis Cardoso; Laura Vilarinho (ISBMDA, 2004)

Methylmalonic Acidurias - mut0/mut- and cblC Defects in Portuguese Population. - Célia Nogueira; Marta Marques; Laura Vilarinho (BIOINFORMATICS, 2010)

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)