Carlos I. Rivera-Pedroza

Identification of the fourth duplication of upstream IHH regulatory elements, in a family with craniosynostosis Philadelphia type, helps to define the phenotypic characterization of these regulatory elements

E. Guillén-Navarro, E. Barroso, K. Heath, 2015, American journal of medical genetics. Part A.

A novel SMARCAL1 missense mutation that affects splicing in a severely affected Schimke immunoosseous dysplasia patient.

P. Lapunzina, K. Heath, A. Belinchón, 2016, European journal of medical genetics.

Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants

P. Lapunzina, E. Guillén-Navarro, E. Barroso, 2014, European Journal of Human Genetics.