Eduardo Pérez‐Palma
Universidad del Desarrollo(CL)Clínica Alemana(CL)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, Epilepsy research and treatment, Genomics and Phylogenetic Studies
Most-Cited Works
- → A catalogue of new incidence estimates of monogenic neurodevelopmental disorders caused by de novo variants(2020)151 cited
- → The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications(2022)145 cited
- → Clinical sequencing yield in epilepsy, autism spectrum disorder, and intellectual disability: A systematic review and meta‐analysis(2020)144 cited
- → Predicting functional effects of missense variants in voltage-gated sodium and calcium channels(2020)139 cited
- → Comprehensive characterization of amino acid positions in protein structures reveals molecular effect of missense variants(2020)122 cited
- → Variants in ABCG8 and TRAF3 genes confer risk for gallstone disease in admixed Latinos with Mapuche Native American ancestry(2019)110 cited
- → Gene variant effects across sodium channelopathies predict function and guide precision therapy(2022)100 cited
- → Wnt/β-Catenin Signaling in Alzheimer’s Disease(2014)98 cited
- → Current knowledge of SLC6A1-related neurodevelopmental disorders(2020)97 cited
- → Spectrum of GABAA receptor variants in epilepsy(2019)85 cited