Kalotina Machini
Brigham and Women's Hospital(US)Mass General Brigham(US)
Publications by Year
Research Areas
Genomics and Rare Diseases, BRCA gene mutations in cancer, Genomic variations and chromosomal abnormalities, Biomedical Text Mining and Ontologies, Cancer Genomics and Diagnostics
Most-Cited Works
- → Actionable exomic incidental findings in 6503 participants: challenges of variant classification(2015)360 cited
- → Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project(2019)298 cited
- → The Impact of Whole-Genome Sequencing on the Primary Care and Outcomes of Healthy Adult Patients(2017)166 cited
- → A curated gene list for reporting results of newborn genomic sequencing(2017)127 cited
- → Association of Rare Pathogenic DNA Variants for Familial Hypercholesterolemia, Hereditary Breast and Ovarian Cancer Syndrome, and Lynch Syndrome With Disease Risk in Adults According to Family History(2020)106 cited
- → Parental interest in genomic sequencing of newborns: enrollment experience from the BabySeq Project(2018)97 cited
- → A systematic approach to the reporting of medically relevant findings from whole genome sequencing(2014)94 cited
- → A Comparison of Whole Genome Sequencing to Multigene Panel Testing in Hypertrophic Cardiomyopathy Patients(2017)92 cited
- → Automated typing of red blood cell and platelet antigens: a whole-genome sequencing study(2018)90 cited
- → Discordant results between conventional newborn screening and genomic sequencing in the BabySeq Project(2021)82 cited