Sixto García‐Miñáur
Hospital Universitario La Paz(ES)Centro de Investigación Biomédica en Red(ES)Health Research Institute of the Balearic Islands(ES)ERN GUARD-Heart(NL)Instituto de Investigación de Enfermedades Raras(ES)
Publications by Year
Research Areas
Congenital heart defects research, Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, RNA modifications and cancer
Most-Cited Works
- → Practical guidelines for managing adults with 22q11.2 deletion syndrome(2015)313 cited
- → Dominant missense mutations in ABCC9 cause Cantú syndrome(2012)199 cited
- → How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum(2011)180 cited
- → Using common genetic variation to examine phenotypic expression and risk prediction in 22q11.2 deletion syndrome(2020)145 cited
- → Outcomes of pregnancies diagnosed with Klinefelter syndrome: the possible influence of health professionals†(2002)133 cited
- → Phenotype and genotype in 52 patients with Rubinstein–Taybi syndrome caused by EP300 mutations(2016)122 cited