Ivan Limongelli
Publications by Year
Research Areas
Genomics and Rare Diseases, Biomedical Text Mining and Ontologies, Genomics and Phylogenetic Studies, Genomic variations and chromosomal abnormalities, Genetic Associations and Epidemiology
Most-Cited Works
- → Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1(2013)316 cited
- → Clinical Effects of Driver Somatic Mutations on the Outcomes of Patients With Myelodysplastic Syndromes Treated With Allogeneic Hematopoietic Stem-Cell Transplantation(2016)252 cited
- → A machine learning approach based on ACMG/AMP guidelines for genomic variant classification and prioritization(2022)95 cited
- → MCM5: a new actor in the link between DNA replication and Meier-Gorlin syndrome(2017)76 cited
- → PaPI: pseudo amino acid composition to score human protein-coding variants(2015)66 cited
- → Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform(2014)65 cited
- → CardioVAI: An automatic implementation of ACMG-AMP variant interpretation guidelines in the diagnosis of cardiovascular diseases(2018)51 cited
- → Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure(2015)49 cited
- → Loss-of-FunctionFANCLMutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association(2015)39 cited
- → Big Data as a Driver for Clinical Decision Support Systems: A Learning Health Systems Perspective(2018)38 cited