Rebecca Ganetzky

25PUBLICATIONS
272CO-AUTHORS
Gene and molecular therapyMedical biochemistry - proteins and peptides (incl. medical proteomics)Gene expression (incl. microarray and other genome-wide approaches)Inorganic geochemistryMajor global burdens of disease
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Publications (25)

|Jul 13, 2026
Generation of a Patient-Derived Inducible Pluripotent Stem Cell Model for Studying the YARS2-Related Genetic Disease.

|Jun 29, 2026
The clinical utility of functional testing in fibroblasts to diagnose primary mitochondrial disease.

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

|Feb 27, 2026
Investigating Elevated Glutaric Acid in Early Infancy.

Shubhnita Singh, Caitlin Menello, Xinying Hong

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

Kajus Merkevicius, Dmitrii Smirnov, Lea D Schlieben

|Apr 16, 2025
Machine Learning Improves the Predictive Utility of Lactic Acid in Hospitalized Infants.

K Taylor Wild, Ibrahim George-Sankoh, Stephen R Master

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Frequent Collaborators

5 joint publications

Marni J Falk

3 joint publications

Cesar Alves

3 joint publications

Xinying Hong

3 joint publications

Parith Wongkittichote