I. Ferrer-Bolufer

Tyrosinemia type 1 and Angelman syndrome due to paternal uniparental isodisomy 15

M. Roselló, C. Orellana, F. Martínez, 2009, Journal of Inherited Metabolic Disease.

Rare chromosomal complement of trisomy 21 in a boy conceived by IVF and cryopreservation.

M. Roselló, C. Orellana, F. Martínez, 2009, Reproductive Biomedicine Online.

Submicroscopic Duplication of the Wolf-Hirschhorn Critical Region with a 4p Terminal Deletion

M. Roselló, C. Orellana, F. Martínez, 2009, Cytogenetic and Genome Research.

Reviewed and updated Algorithm for Genetic Characterization of Syndromic Obesity Phenotypes

R. Rodríguez-López, Fátima Gimeno-Ferrer, C. S. Juan, 2022, Current genomics.

Prenatal study of common submicroscopic "genomic disorders" using MLPA with subtelomeric/microdeletion syndrome probe mixes, among gestations with ultrasound abnormalities in the first trimester.

M. Roselló, C. Orellana, F. Martínez, 2010, European journal of medical genetics.

Partial Duplication of 18q Including a Distal Critical Region for Edwards Syndrome in a Patient with Normal Phenotype and Oligoasthenospermia: Case Report

M. Roselló, C. Orellana, F. Martínez, 2011, Cytogenetic and Genome Research.

Immune Deficiency in Jacobsen Syndrome: Molecular and Phenotypic Characterization

R. Rodríguez-López, David Albuquerque, E. Montesinos, 2021, Genes.