Blanca Gener
BioCruces Health research Institute(ES)Hospital de Cruces(ES)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, RNA modifications and cancer, Genetics and Neurodevelopmental Disorders, Epigenetics and DNA Methylation
Most-Cited Works
- → Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome(2003)854 cited
- → Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response(2009)682 cited
- → Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1(2015)601 cited
- → Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome(2007)445 cited
- → Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study(2013)433 cited
- → Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability(2014)353 cited