Marni J Falk

24PUBLICATIONS
104CO-AUTHORS
Medical virologyGene expression (incl. microarray and other genome-wide approaches)Major global burdens of diseaseCurriculum and pedagogy theory and developmentNeurology and neuromuscular diseases
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Publications (24)

|Jul 28, 2026
MSeqDR PMD-VR: An Expert-Curated Virtual Registry of 11,000 Mitochondrial Disease Cases Established Through Literature Mining and Generative AI Augmentation.

|Apr 15, 2026
Targeted long-read RNA sequencing for rare disease diagnosis and variant interpretation.

|Nov 15, 2025
The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

Kajus Merkevicius, Dmitrii Smirnov, Lea D Schlieben

|Oct 28, 2025
Long-Term Postural Orthostatic Tachycardia Syndrome Outcomes Survey: Educational, Economic, and Social Impact.

Jeffrey R Boris, Edward C Shadiack, Elizabeth M McCormick

|Aug 12, 2025
ndufs2-/- zebrafish have impaired survival, neuromuscular activity, morphology, and one-carbon metabolism treatable with folic acid.

Dana V Mitchell, Donna M Iadarola, Neal D Mathew

|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

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Frequent Collaborators

9 joint publications

Elizabeth M McCormick

6 joint publications

Zarazuela Zolkipli-Cunningham

5 joint publications

Laura MacMullen

5 joint publications

Rebecca Ganetzky