Carlos A. Bacino
University of Miami(US)Baylor University(US)Baylor College of Medicine(US)University of Miami Hospital(US)Texas Children's Hospital(US)Baylor Genetics(US)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Prenatal Screening and Diagnostics, Congenital heart defects research
Most-Cited Works
- → Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature(2012)928 cited
- → Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities(2008)628 cited
- → Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in Both the CBP and EP300 Genes Cause Disease(2005)471 cited
- → Chromosome Catastrophes Involve Replication Mechanisms Generating Complex Genomic Rearrangements(2011)459 cited
- → High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies(2017)451 cited
- → Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome(2007)445 cited