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Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 20, 2023
Phenotypic presentation of Mendelian disease across the diagnostic trajectory in electronic health recordsRory J Tinker, Josh Peterson, Lisa BastaracheMedrxiv : the Preprint Server for Health Sciences|January 30, 2023
Phenotypic convergence: a novel phenomenon in the diagnostic process of Mendelian genetic disordersRory J Tinker, Josh Peterson, Lisa BastaracheMolecular Genetics and Metabolism|October 16, 2025
Effectiveness of newborn screening for X-linked disorders in females: A scoping reviewHanabi Geiger, Yutaka Furuta, John A Phillips, et al.Journal of Paediatrics and Child Health|June 21, 2022
Early reattenders to the paediatric emergency department: A prospective cohort study and multivariate analysisMatthew Stokle, Rory J Tinker, Samuel P Munro, et al.Reports (MDPI)|July 25, 2025
New-Onset Type 1 Diabetes in a Child with Joubert Syndrome: A Rare Endocrine ComplicationYutaka Furuta, Erica T Nelson, Rory J Tinker, et al.The American Surgeon|November 23, 2025
Emergency Management of Inherited Metabolic Disorders in Acute Surgical and Trauma SettingsYutaka Furuta, Rory J Tinker, Angela R Grochowsky, et al.Journal of Pediatric Health Care : Official Publication of National Association of Pediatric Nurse Associates & Practitioners|February 26, 2026
Coagulopathy in Neonates With Classic Galactosemia: A Life-Threatening Yet Underrecognized ComplicationJessica K Gagen, Rory J Tinker, John A Phillips, et al.Cureus|March 10, 2025
Correcting Lab Misinterpretations of Variants of Unknown Significance: A Case Study of EMILIN1 Variants in an Autosomal Recessive DisorderYutaka Furuta, Rory J Tinker, Ryan M Dahlhauser, et al.American Journal of Medical Genetics. Part A|September 27, 2024
Prevalence of Individuals With Multiple Diagnosed Genetic Diseases in the Undiagnosed Diseases NetworkAlex F Gimeno, Rory J Tinker, Yutaka Furuta, et al.Molecular Diagnosis & Therapy|March 1, 2021
Current and Emerging Clinical Treatment in Mitochondrial DiseaseRory J Tinker, Albert Z Lim, Renae J Stefanetti, et al.Pageof 6