Sean D. Mooney
Center for Information Technology(US)
Publications by Year
Research Areas
Genomics and Rare Diseases, Bioinformatics and Genomic Networks, Biomedical Text Mining and Ontologies, Genomics and Phylogenetic Studies, RNA and protein synthesis mechanisms
Most-Cited Works
- → Automated inference of molecular mechanisms of disease from amino acid substitutions(2009)844 cited
- → Inferring the molecular and phenotypic impact of amino acid variants with MutPred2(2020)823 cited
- → Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria(2022)488 cited
- → Label-free quantitative proteomics of the lysine acetylome in mitochondria identifies substrates of SIRT3 in metabolic pathways(2013)447 cited
- → Genetic Correction of Huntington's Disease Phenotypes in Induced Pluripotent Stem Cells(2012)376 cited
- → Splicing factor SFRS1 recognizes a functionally diverse landscape of RNA transcripts(2008)317 cited
- → Late-life rapamycin treatment reverses age-related heart dysfunction(2013)312 cited
- → Considering the possibilities and pitfalls of Generative Pre-trained Transformer 3 (GPT-3) in healthcare delivery(2021)262 cited
- → The role of exome sequencing in newborn screening for inborn errors of metabolism(2020)244 cited
- → High-performance web services for querying gene and variant annotation(2016)233 cited