Elise D. Flynn

发表论文 9 篇 · 总被引 4808 次 · h-index 7

代表论文

• The GTEx Consortium atlas of genetic regulatory effects across human tissues (2019 · Science · 被引 5047)
• Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency (2015 · Genetics in Medicine · 被引 101)
• Distinct epigenomic patterns are associated with haploinsufficiency and predict risk genes of developmental disorders (2017 · Nature Communications · 被引 37)
• Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience (2017 · Frontiers in Medicine · 被引 29)
• Phenotypic Evolution of UNC80 Loss of Function (2016 · American Journal of Medical Genetics. Part A · 被引 17)
• Bowel perforation complicating an ACTH-secreting phaeochromocytoma (2016 · Endocrinology, Diabetes & Metabolism Case Reports · 被引 15)