P433: A novel deep intronic variant in DYNC2H1 characterized through exome reanalysis in a neonate with short-rib thoracic dysplasia type IIIMuqsit Buchh, Francesco Vetrini, Fang Fang et al.|Genetics in Medicine Open|2023Cited by 0
P535: The undiagnosed rare disease clinic program of Indiana University: Lessons learned from the first 100 patients enrolled (Phase-I pilot)Khurram Liaqat, Stephanie M. Ware, Francesco Vetrini et al.|Genetics in Medicine Open|2024Cited by 0
P626: Enhancing ultra-rare disease diagnoses through multi-omics integration and multi-site collaboration in the Indiana University Undiagnosed Rare Disease Clinic (URDC) cohortKhurram Liaqat, Francesco Vetrini, Kayla Treat et al.|Genetics in Medicine Open|2025Cited by 0