Anna M. Cueto‐González
Hebron University(PS)Universitat Autònoma de Barcelona(ES)Vall d'Hebron Institut de Recerca(ES)Vall d'Hebron Hospital Universitari(ES)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders, Congenital heart defects research, RNA modifications and cancer
Most-Cited Works
- → Mutations in EOGT Confirm the Genetic Heterogeneity of Autosomal-Recessive Adams-Oliver Syndrome(2013)126 cited
- → MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype–phenotype study(2013)103 cited
- → A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes(2017)39 cited
- → Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement(2024)36 cited
- → Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients(2019)31 cited
- → New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency Disorder(2021)30 cited