I. Pereiro

New mutations in BBS genes in small consanguineous families with Bardet-Biedl syndrome: Detection of candidate regions by homozygosity mapping

S. Borrego, M. Baiget, D. Nishimura, 2010, Molecular vision.

Overview of Bardet–Biedl syndrome in Spain: identification of novel mutations in BBS1, BBS10 and BBS12 genes

M. Baiget, C. Ayuso, D. Valverde, 2014, Clinical genetics.

Arrayed primer extension technology simplifies mutation detection in Bardet–Biedl and Alström syndrome

J. Naggert, N. Katsanis, P. Beales, 2011, European Journal of Human Genetics.

[Algorithm for the molecular analysis of Bardet-Biedl syndrome in Spain].

D. Valverde, M. Álvarez-Satta, S. Cástro-Sánchez, 2015, Medicina clinica.

Clinical evaluation of two consanguineous families with homozygous mutations in BEST1

D. Sharon, D. Valverde, Patrik Schatz, 2011, Molecular vision.

Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71.

V. Sheffield, E. Stone, D. Nishimura, 2010, American journal of human genetics.

Complexity of phenotype-genotype correlations in Spanish patients with RDH12 mutations.

S. Borrego, M. Baiget, E. Vallespín, 2009, Investigative ophthalmology & visual science.