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Rory J Tinker

Assistant Professor

Icahn School of Medicine at Mount Sinai

United States

Research Interests

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Professors in United States

Articles (20)

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2026

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Collaborators (8)

Hong Li

UNITED STATES

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Josh Peterson

Professor

Vanderbilt University Medical Center

UNITED STATES

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Kelly Metcalfe

Professor and Associate Dean, Research & External Relations

University of Toronto

CANADA

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Eric Gamazon

University of Chicago

UNITED STATES

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Christopher G. Bunick

Yale University

UNITED STATES

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John A Phillips III

Prof

Vanderbilt University Medical Center

UNITED STATES

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Scott Ward

Assistant Professor of Clinical Pediatrics (Medical Genetics)

Vanderbilt University Medical Center

UNITED STATES

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Thomas Burrow

Professor

University of Arkansas for Medical Sciences

UNITED STATES

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Rory J Tinker

Research Interests

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Articles (20)

Timely Diagnosis of Cobalamin C Disease via Rapid Genome Sequencing in a Neonate With Severe Prenatally Detected Biventricular Dysfunction

Diagnostic Odyssey of Atypical Long‐Chain 3‐Hydroxyacyl‐CoA Dehydrogenase Deficiency (LCHADD) Explained by Three Allelic Products From Two Pathogenic Variants

Decoding Genetic Disease Through the Skin: Lessons From the UDN

Positron Emission Tomography (PET) in Phenylketonuria: A Systematic Review of Brain Metabolism Beyond Phenylalanine

A Systematic Review of Positron Emission Tomography (PET) in X‐Linked Adrenoleukodystrophy: Beyond Structural MRI

An EHR-based framework for modeling growth curves and constructing growth centile charts for genetic disorders.

Clinicopathologic characteristics of early-onset breast cancer among unselected young Black women.

Syndrome of the Month: Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia Type 2

Evaluating pregnancy and neonatal outcomes in mothers with genetic disease using electronic health care records

Expanded Clinical Spectrum of Autosomal-Dominant STT3A-CDG

Sex-Specific Diagnostic Inequality in Fabry Disease: Lessons Learned from Analysis of Newborn Screening and Cascade Testing in Tennessee from 2017 to 2024

First clinical diagnosis of FAME3 via commercial Long-Read sequencing reveals mosaic repeat expansion in MARCHF6 gene

The Impact of Ethnic and Communication Barriers on Fatal Metabolic Emergent Management of Traumatic Injury: A Case Report

Emergency Management of Inherited Metabolic Disorders in Acute Surgical and Trauma Settings.

Genetic evidence informs the direction of therapeutic modulation in drug development

Large Language Models for Rare Disease Diagnosis at the Undiagnosed Diseases Network.

Unexplained Progressive Respiratory Insufficiency and Weakness Diagnosed as Late-Onset Pompe Disease Through Biochemical and Molecular Genetic Testing.

New-Onset Type 1 Diabetes in a Child with Joubert Syndrome: A Rare Endocrine Complication.

Correcting Lab Misinterpretations of Variants of Unknown Significance: A Case Study of EMILIN1 Variants in an Autosomal Recessive Disorder.

A statistical framework for evaluating repeatability and reproducibility of large language models in diagnostic reasoning

Collaborators (8)

Hong Li

Josh Peterson

Kelly Metcalfe

Eric Gamazon

Christopher G. Bunick

John A Phillips III

Scott Ward

Thomas Burrow

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