Jon Andoni Urtizberea

Lamin A/C gene related disorders: the EUROMEN consortium experience

Luciano Merlini, Francesco Muntoni, M. de Visser, 2003 .

Deciphering the complexity of the 4q and 10q subtelomeres by molecular combing in healthy individuals and patients with facioscapulohumeral dystrophy

Albert David, Jon Andoni Urtizberea, Bruno Eymard, 2019, Journal of Medical Genetics.

Mutation spectrum in the large GTPase dynamin 2, and genotype–phenotype correlation in autosomal dominant centronuclear myopathy

Jocelyn Laporte, Luciano Merlini, Christophe Béroud, 2012, Human mutation.