Jimena Barraza‐García

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

Carol-Anne Martin, Kata Sarlós, Clare V. Logan et al. · The American Journal of Human Genetics · 2018 · 99 citations · Full text

Life Sciences, Genetics, Molecular Genetics +7

IHH Gene Mutations Causing Short Stature With Nonspecific Skeletal Abnormalities and Response to Growth Hormone Therapy

Gabriela A. Vasques, Mariana F.A. Funari, Frederico Moraes Ferreira et al. · The Journal of Clinical Endocrinology & Metabolism · 2017 · 76 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Mutations in C-natriuretic peptide (NPPC): a novel cause of autosomal dominant short stature

Alfonso Hisado-Oliva, Alba Ruzafa-Martin, Lucia Sentchordi et al. · Genetics in Medicine · 2017 · 68 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

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