Eduardo Calpena
Instituto de Salud Carlos III(ES)Centre for Biomedical Network Research on Rare Diseases(ES)Centro de Investigación Biomédica en Red(ES)Instituto de Investigación Sanitaria La Fe(ES)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Craniofacial Disorders and Treatments, Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Hereditary Neurological Disorders
Most-Cited Works
- → Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome(2018)80 cited
- → Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases(2023)66 cited
- → TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development(2021)63 cited
- → De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder(2019)62 cited
- → Junctophilin-1 is a modifier gene of GDAP1-related Charcot–Marie–Tooth disease(2014)53 cited
- → De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder(2018)51 cited