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Plos One|January 24, 2014
Identification of critical regions and candidate genes for cardiovascular malformations and cardiomyopathy associated with deletions of chromosome 1p36Hitisha P Zaveri, Tyler F Beck, Andrés Hernández-García, et al.NPJ Genomic Medicine|March 5, 2021
Australia and New Zealand renal gene panel testing in routine clinical practice of 542 familiesHope A Tanudisastro, Katherine Holman, Gladys Ho, et al.Investigative Ophthalmology & Visual Science|March 29, 2022
RNA Sequencing of Lens Capsular Epithelium Implicates Novel Pathways in Pseudoexfoliation SyndromeSean Mullany, Henry Marshall, Tiger Zhou, et al.American Journal of Human Genetics|May 1, 2018
Patient-iPSC-Derived Kidney Organoids Show Functional Validation of a Ciliopathic Renal Phenotype and Reveal Underlying Pathogenetic MechanismsThomas A Forbes, Sara E Howden, Kynan Lawlor, et al.Kidney International Reports|July 1, 2026
Scoping Review of Global Kidney Genetics Clinic Models and OutcomesRu Sin Lim, Trudie Harris, Julia Jefferis, et al.European Journal of Human Genetics : EJHG|May 25, 2024
Reanalysis of genomic data in rare disease: current practice and attitudes among Australian clinical and laboratory genetics servicesStephanie Best, Zoe Fehlberg, Christopher Richards, et al.Clinical Cancer Research : an Official Journal of the American Association for Cancer Research|May 12, 2017
A First-in-Human, Phase I, Dose-Escalation Study of TAK-117, a Selective PI3Kα Isoform Inhibitor, in Patients with Advanced Solid MalignanciesDejan Juric, Johann S de Bono, Patricia M LoRusso, et al.Epilepsia Open|May 4, 2026
KCNQ2 neonatal epilepsy: Impact of prompt diagnosis and treatment, and early predictors of outcome severityTrupti Jadhav, Sophie E Bouffler, Emily Innes, et al.Geroscience|March 17, 2025
3-Monothiopomalidomide, a new immunomodulatory imide drug (IMiD), blunts inflammation and mitigates ischemic stroke in the ratKai-Yun Chen, Shih-Chang Hsueh, Pathik Parekh, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 2, 2024
A national education program for rapid genomics in pediatric acute care: Building workforce confidence, competence, and capabilityGiulia McCorkell, Amy Nisselle, Donna Halton, et al.Pageof 33