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Medicina|February 23, 2023
[Introduction to filtering, analysis and curation of genetic variants in patients with intellectual disability]Jimena Barraza García, Cristina Cano Moratilla, Alberto González de la VegaArchives of Medical Research|July 24, 2026
Variant Curation and Classification in Rare Disease Genomics: Standards and Emerging Tools for Single-Nucleotide Variant AnalysisJimena Barraza García, Marta García, Leire Echepare Olivera, et al.European Journal of Medical Genetics|October 13, 2017
Multiple SLC26A2 mutations occurring in a three-generational familyAna Coral Barreda-Bonis, Jimena Barraza-García, Manuel Parrón, et al.European Journal of Medical Genetics|June 11, 2016
A novel SMARCAL1 missense mutation that affects splicing in a severely affected Schimke immunoosseous dysplasia patientJimena Barraza-García, Carlos I Rivera-Pedroza, Alberta Belinchón, et al.Molecular Syndromology|February 25, 2017
Chromosome 1p31.1p31.3 Deletion in a Patient with Craniosynostosis, Central Nervous System and Renal Malformation: Case Report and Review of the LiteratureCarlos I Rivera-Pedroza, Jimena Barraza-García, Beatriz Paumard-Hernández, et al.Human Mutation|July 22, 2017
FGF9 mutation causes craniosynostosis along with multiple synostosesMaria Rodriguez-Zabala, Miriam Aza-Carmona, Carlos I Rivera-Pedroza, et al.American Journal of Medical Genetics. Part A|September 17, 2015
Two novel POC1A mutations in the primordial dwarfism, SOFT syndrome: Clinical homogeneity but also unreported malformationsJimena Barraza-García, Carlos Iván Rivera-Pedroza, Luis Salamanca, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 30, 2017
Mutations in C-natriuretic peptide (NPPC): a novel cause of autosomal dominant short statureAlfonso Hisado-Oliva, Alba Ruzafa-Martin, Lucia Sentchordi, et al.The Journal of Clinical Endocrinology and Metabolism|November 21, 2017
IHH Gene Mutations Causing Short Stature With Nonspecific Skeletal Abnormalities and Response to Growth Hormone TherapyGabriela A Vasques, Mariana F A Funari, Frederico M Ferreira, et al.American Journal of Human Genetics|July 31, 2018
Mutations in TOP3A Cause a Bloom Syndrome-like DisorderCarol-Anne Martin, Kata Sarlós, Clare V Logan, et al.Pageof 1