Kalotina Machini

机构：Brigham and Women's Hospital, Mass General Brigham · ORCID：0000-0002-1134-2829

发表论文 32 篇 · 总被引 2444 次 · h-index 18

代表论文

• Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project (2019 · The American Journal of Human Genetics · 被引 312)
• The Impact of Whole-Genome Sequencing on the Primary Care and Outcomes of Healthy Adult Patients (2017 · Annals of Internal Medicine · 被引 172)
• A curated gene list for reporting results of newborn genomic sequencing (2017 · Genetics in Medicine · 被引 129)
• 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 · JAMA Network Open · 被引 111)
• Parental interest in genomic sequencing of newborns: enrollment experience from the BabySeq Project (2018 · Genetics in Medicine · 被引 103)
• A Comparison of Whole Genome Sequencing to Multigene Panel Testing in Hypertrophic Cardiomyopathy Patients (2017 · Circulation Cardiovascular Genetics · 被引 93)