Carlos I Rivera-Pedroza

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

Beatriz Paumard‐Hernández, Julia Berges‐Soria, Eva Barroso et al. · European Journal of Human Genetics · 2014 · 66 citations · Full text

Medicine, Genetics, Molecular Genetics +16

FGF9 mutation causes craniosynostosis along with multiple synostoses

Maria Rodriguez‐Zabala, Miriam Aza‐Carmona, Carlos I Rivera-Pedroza et al. · Human Mutation · 2017 · 35 citations

Dentistry, Genetics, Molecular Genetics +14

Broadening the phenotypic spectrum of <scp>POP1</scp>‐skeletal dysplasias: identification of <scp>POP1</scp> mutations in a mild and severe skeletal dysplasia

Jimena Barraza‐García, Carlos I Rivera-Pedroza, Alfonso Hisado-Oliva et al. · Clinical Genetics · 2017 · 23 citations · Full text

Medicine, Genetics, Molecular Genetics +16

Two novel <i>POC1A</i> mutations in the primordial dwarfism, SOFT syndrome: Clinical homogeneity but also unreported malformations

Jimena Barraza‐García, Carlos I Rivera-Pedroza, Luis Salamanca et al. · American Journal of Medical Genetics Part A · 2015 · 20 citations

Medicine, Genetics, Molecular Genetics +17

Early severe scoliosis in a patient with atypical progressive pseudorheumatoid dysplasia (PPD): Identification of two <i>WISP3</i> mutations, one previously unreported

Lucía Sentchordi Montané, Óliver Marín-Peña, Carlos I Rivera-Pedroza et al. · American Journal of Medical Genetics Part A · 2016 · 13 citations

Medicine, Genetics, Molecular Genetics +17