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Studies in Health Technology and Informatics|August 8, 2025
Accuracy of Large Language Models in Generating Rare Disease Differential Diagnosis Using Key Clinical FeaturesCathy Shyr, Rory J Tinker, Paul A Harris, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 9, 2026
Evaluating Pregnancy and Neonatal Outcomes in Mothers with Genetic Disease using electronic healthcare recordsRory J Tinker, Lucas D Richter, Yutaka Furuta, et al.
NPJ Drug Discovery|October 6, 2025
Genetic evidence informs the direction of therapeutic modulation in drug developmentRobert Chen, Áine Duffy, Joshua K Park, et al.
Maternal and Child Health Journal|September 16, 2024
Integrating a Parenting Assessment into Practice: Pediatric Providers' Time and PerspectivesAmber J Cooke, Tahra I Attar, Victoria L Carr, et al.
Medrxiv : the Preprint Server for Health Sciences|November 24, 2025
A statistical framework for evaluating the repeatability and reproducibility of large language modelsCathy Shyr, Boyu Ren, Chih-Yuan Hsu, et al.
Molecular Genetics & Genomic Medicine|September 15, 2022
A novel, likely pathogenic variant in UBTF-related neurodegeneration with brain atrophy is associated with a severe divergent neurodevelopmental phenotypeRory J Tinker, Tiffany Guess, David C Rinker, et al.
American Journal of Medical Genetics. Part A|April 27, 2026
Diagnostic Odyssey of Atypical Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHADD) Explained by Three Allelic Products From Two Pathogenic VariantsYutaka Furuta, Lynette C Rives, T Andrew Burrow, et al.
American Journal of Medical Genetics. Part A|March 21, 2024
Undiagnosed Disease Network collaborative approach in diagnosing rare disease in a patient with a mosaic CACNA1D variantKimberly M Ezell, Rory J Tinker, Yutaka Furuta, et al.
American Journal of Medical Genetics. Part A|October 14, 2024
Advancing Equity in Rare Disease Research: Insights From the Undiagnosed Disease NetworkNicholas A Borja, Rory J Tinker, Stephanie A Bivona, et al.
American Journal of Medical Genetics. Part A|October 28, 2023
Probable digenic inheritance of Diamond-Blackfan anemiaYutaka Furuta, Rory J Tinker, Alican Gulsevin, et al.
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