Rory Tinker

19PUBLICATIONS
36CO-AUTHORS
Language documentation and descriptionCancer diagnosisMedical biochemistry - carbohydratesNeonatologyMedical molecular engineering of nucleic acids and proteins
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Publications (19)

|Nov 05, 2026
A statistical framework for evaluating the repeatability and reproducibility of large language models.

|Sep 26, 2026
A Systematic Review of Positron Emission Tomography (PET) in X-Linked Adrenoleukodystrophy: Beyond Structural MRI.

|Aug 04, 2026
Timely Diagnosis of Cobalamin C Disease via Rapid Genome Sequencing in a Neonate With Severe Prenatally Detected Biventricular Dysfunction.

|Jun 26, 2026
Positron Emission Tomography (PET) in Phenylketonuria: A Systematic Review of Brain Metabolism Beyond Phenylalanine.

|Jun 12, 2026
DHDDS-related juvenile parkinsonism is caused by impaired lipid metabolism, glycosylation, and mitochondrial dysfunction, which can be rescued by NAD+ treatment.

|Apr 27, 2026
Diagnostic Odyssey of Atypical Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHADD) Explained by Three Allelic Products From Two Pathogenic Variants.

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Frequent Collaborators

9 joint publications

Yutaka Furuta

3 joint publications

Thomas Cassini

3 joint publications

John A Phillips

2 joint publications

Hong Li