1. A new syndrome of moyamoya disease, kidney dysplasia, aminotransferase elevation, and skin disease associated with de novo variants in RNF213. Issue 7 (7th May 2021) Authors: Strong, Alanna; O'Grady, Gina; Shih, Evelyn; Bishop, Jonathan R.; Loomes, Kathleen; Diamond, Tamir; Hartung, Erum A.; Wong, William; Cuddapah, Sanmati; Cahill, Anne Marie; Hou, Cuiping; Slater, Diana; Vaccaro, Courtney; Watson, Deborah; Li, Dong; Hakonarson, Hakon Journal: American journal of medical genetics Issue: Volume 185:Issue 7(2021) Page Start: 2168 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Fetal cardiomyopathy in neurofibromatosis type I: Novel phenotype and review of the literature. Issue 6 (28th March 2019) Authors: Ritter, Alyssa; Cuddapah, Sanmati; Degenhardt, Karl; Kasperski, Stefanie; Johnson, Mark P.; O'Connor, Matthew J.; Ahrens‐Nicklas, Rebecca Journal: American journal of medical genetics Issue: Volume 179:Issue 6(2019) Page Start: 1042 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Further Evidence That ARIH1 Rare Variants Predispose to Thoracic Aortic Disease. (9th November 2022) Authors: Boerio, Maura L.; Engelhardt, Nicole M.; Cuddapah, Sanmati; Gold, Jessica I.; Marin, Isabella C.; Pinard, Amélie; Guo, Dongchuan; Prakash, Siddharth K.; Milewicz, Dianna M. Journal: Circulation Issue: Volume 15:Number 6(2022) Page Start: e003707 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗