Natàlia Padilla
University of Arizona(US)Instituto Costarricense de Investigación y Enseñanza en Nutrición y Salud(CR)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Genomics and Phylogenetic Studies, Epigenetics and DNA Methylation, Cancer Genomics and Diagnostics
Most-Cited Works
- → PHF2 histone demethylase prevents DNA damage and genome instability by controlling cell cycle progression of neural progenitors(2019)56 cited
- → CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods(2024)54 cited
- → Epigenetic signature for attention-deficit/hyperactivity disorder: identification of miR-26b-5p, miR-185-5p, and miR-191-5p as potential biomarkers in peripheral blood mononuclear cells(2018)48 cited
- → The Complementarity Between Protein-Specific and General Pathogenicity Predictors for Amino Acid Substitutions(2016)46 cited
- → Elucidating the molecular basis of MSH2‐deficient tumors by combined germline and somatic analysis(2017)35 cited
- → SeMPI: a genome-based secondary metabolite prediction and identification web server(2017)30 cited
- → Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders(2023)21 cited
- → Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variants(2019)20 cited
- → New genes involved in Angelman syndrome-like: Expanding the genetic spectrum(2021)19 cited
- → Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice(2023)17 cited