Marni J Falk

27PUBLICATIONS
111CO-AUTHORS
Metabolic medicineGenomics and transcriptomicsMedical virologyGene expression (incl. microarray and other genome-wide approaches)Major global burdens of disease
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Publications (27)

|Oct 01, 2026
Advances in diagnosis of mitochondrial dysfunction and primary mitochondrial disease.

|Sep 22, 2026
NanoTS: a deep learning tool for accurate SNP calling in nanopore long-read transcriptome data.

|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

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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