1. De novo PBX1 variant in a patient with glaucoma, kidney anomalies, and developmental delay: An expansion of the CAKUTHED phenotype. Issue 3 (19th November 2021) Authors: Safgren, Stephanie L.; Olson, Rory J.; Pinto e Vairo, Filippo; Bothun, Erick D.; Hanna, Christian; Klee, Eric W.; Schimmenti, Lisa A. Journal: American journal of medical genetics Issue: Volume 188:Issue 3(2022) Page Start: 919 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5. (7th February 2023) Authors: Happ, Hannah C.; Sadleir, Lynette G.; Zemel, Matthew; de Valles-Ibáñez, Guillem; Hildebrand, Michael S.; McConkie-Rosell, Allyn; McDonald, Marie; May, Halie; Sands, Tristan; Aggarwal, Vimla; Elder, Christopher; Feyma, Timothy; Bayat, Allan; Møller, Rikke S.; Fenger, Christina D.; Klint Nielsen, J... Journal: Neurology Issue: Volume 100:Number 6(2023) Page Start: e603 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Recurrent ganglioneuroma in PTPN11‐associated Noonan syndrome: A case report and literature review. Issue 6 (29th March 2021) Authors: Morales‐Rosado, Joel A.; Singh, Herchran; Olson, Rory J.; Larsen, Brandon T.; Hager, Megan M.; Klee, Eric W.; Dhamija, Radhika Journal: American journal of medical genetics Issue: Volume 185:Issue 6(2021) Page Start: 1883 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗