Jimena Barraza‐García
Publications by Year
Research Areas
Connective tissue disorders research, Craniofacial Disorders and Treatments, Cleft Lip and Palate Research, DNA Repair Mechanisms, RNA Research and Splicing
Most-Cited Works
- → Mutations in TOP3A Cause a Bloom Syndrome-like Disorder(2018)97 cited
- → IHH Gene Mutations Causing Short Stature With Nonspecific Skeletal Abnormalities and Response to Growth Hormone Therapy(2017)74 cited
- → Mutations in C-natriuretic peptide (NPPC): a novel cause of autosomal dominant short stature(2017)67 cited
- → FGF9 mutation causes craniosynostosis along with multiple synostoses(2017)35 cited
- → Broadening the phenotypic spectrum of POP1‐skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia(2017)23 cited
- → Two novel POC1A mutations in the primordial dwarfism, SOFT syndrome: Clinical homogeneity but also unreported malformations(2015)19 cited
- → Multiple SLC26A2 mutations occurring in a three-generational family(2017)14 cited
- → Chromosome 1p31.1p31.3 Deletion in a Patient with Craniosynostosis, Central Nervous System and Renal Malformation: Case Report and Review of the Literature(2016)12 cited
- → A novel SMARCAL1 missense mutation that affects splicing in a severely affected Schimke immunoosseous dysplasia patient(2016)6 cited