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Elizabeth M McCormick

12PUBLICATIONS

66CO-AUTHORS

Gene expression (incl. microarray and other genome-wide approaches)Medical mycologyNaturopathyQuery processing and optimisationGene and molecular therapy

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Publications (12)

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|Apr 15, 2026

Targeted long-read RNA sequencing for rare disease diagnosis and variant interpretation.

|Jul 30, 2025

The profound implications of mitochondrial myopathy on activities of daily living: an observational qualitative study of standardized structured and semi-structured patient interviews.

Elizabeth M McCormick, James T Peterson, Joaquim Diego D Santos

|Jul 23, 2025

The Long-Term Postural Orthostatic Tachycardia Syndrome Outcomes Survey-Gynecologic Findings: A Cross-Sectional Survey in Young Women.

Jeffrey R Boris, Edward C Shadiack, Elizabeth M McCormick

|Nov 19, 2024

MMFP-Tableau: enabling precision mitochondrial medicine through integration, visualization, and analytics of clinical and research health system electronic data.

Ibrahim George-Sankoh, Laura E MacMullen, Asif T Chinwalla

|May 01, 2024

Expanding the Spectrum of Congenital Myopathy Linked to Variants in the <i>MYBPC1</i> Gene: A Clinical Report.

Pierre-Louis Lanvin, Dong Li, Solène Conrad

|May 31, 2023

Expert Panel Curation of 113 Primary Mitochondrial Disease Genes for the Leigh Syndrome Spectrum.

Elizabeth M McCormick, Kierstin Keller, Julie P Taylor

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Frequent Collaborators

9 joint publications

Marni J Falk

4 joint publications

Zarazuela Zolkipli-Cunningham

3 joint publications

Rebecca D Ganetzky

2 joint publications

C A P F Alves

2 joint publications

A Goldstein

2 joint publications

S R Teixeira

2 joint publications

J S Martin-Saavedra

2 joint publications

G Zuccoli

2 joint publications

A Vossough

2 joint publications

F G Gonçalves

Frequent Collaborators

9 joint publications

Marni J Falk

4 joint publications

Zarazuela Zolkipli-Cunningham

3 joint publications

Rebecca D Ganetzky

2 joint publications

C A P F Alves

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