Andrés Ordóñez‐Ugalde
University of Cuenca(EC)Instituto de Investigación Sanitaria de Santiago(ES)Hospital de Especialidades José Carrasco Arteaga(EC)
Publications by Year
Research Areas
Hereditary Neurological Disorders, Neurological diseases and metabolism, Genomics and Rare Diseases, Skin and Cellular Biology Research, RNA regulation and disease
Most-Cited Works
- → Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice(2013)326 cited
- → A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia(2017)148 cited
- → The Alu-Rich Genomic Architecture of SPAST Predisposes to Diverse and Functionally Distinct Disease-Associated CNV Alleles(2014)99 cited
- → Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia(2019)60 cited
- → PLA2G6 mutations associated with a continuous clinical spectrum from neuroaxonal dystrophy to hereditary spastic paraplegia(2017)46 cited
- → Medical genomics: The intricate path from genetic variant identification to clinical interpretation(2014)37 cited