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Orphanet Journal of Rare Diseases|November 15, 2024
A review of multiple diagnostic approaches in the undiagnosed diseases network to identify inherited metabolic diseasesYutaka Furuta, Rory J Tinker, Rizwan Hamid, et al.
Acta Neurologica Belgica|May 1, 2019
Predictors of mortality and disability in stroke-associated pneumoniaRory J Tinker, Craig J Smith, Calvin Heal, et al.
NPJ Genomic Medicine|July 3, 2026
An EHR-based framework for modeling growth curves and constructing growth centile charts for genetic disordersCathy Shyr, Rory J Tinker, Rebekah F Brown, et al.
International Journal of Dermatology|January 7, 2026
Decoding Genetic Disease Through the Skin: Lessons From the UDN AuthorsAthira Sivadas, Katelyn Moore, Kimberly Ezell, et al.
Medrxiv : the Preprint Server for Health Sciences|November 24, 2025
Drivers of Diagnostic Delay in Mitochondrial Disease: Missed Recognition of Canonical FeaturesRory J Tinker, Neil Jacob, Mohammad Ghouse Syed, et al.
American Journal of Medical Genetics. Part A|August 25, 2023
A medical odyssey of a 72-year-old man with Charcot-Marie-Tooth disease type 2 newly diagnosed with biallelic variants in SORD gene causing sorbitol dehydrogenase deficiencyYutaka Furuta, Erica T Nelson, Serena M Neumann, et al.
American Journal of Human Genetics|April 17, 2025
Characterizing trends in clinical genetic testing: A single-center analysis of EHR data from 1.8 million patients over two decadesLisa Bastarache, Rory J Tinker, Bryce A Schuler, et al.
Biomolecules|March 28, 2026
Expanded Clinical Spectrum of Autosomal-Dominant STT3A-CDGHamdan Al-Shahrani, Evelin Szabó, Caroline Staccone, et al.
JIMD Reports|January 26, 2026
Drivers of Diagnostic Delay in Mitochondrial Disease: Missed Recognition of Canonical FeaturesRory J Tinker, Neil Jacob, Mohammad Ghouse Syed, et al.
American Journal of Ophthalmology|August 8, 2025
The Undiagnosed Diseases Network (UDN) Solves Ocular Syndromic Diagnostic DilemmasRory J Tinker, Logan M Smith, Lisa A Bastarache, et al.
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