Mitochondrial disease; Genetic basis of Mendelian disease; C. elegans models of mitochondrial disease and therapy
Mitochondrial Disease; Ophthalmologic Genetic Disease; Clinical Genetics
Selected Publications
Falk MJ: Small molecule hypoxia therapy in mitochondrial disease. Cell 188, March 2025 Notes: https://doi.org/10.1016/j.cell.2025.02.019.
Ganetzky R, Stanley KD, MacMullen LE, George-Sankoh I, Goldstein A, Xiao R, Falk MJ: Recognizing the Evolution of Clinical Syndrome Spectrum Progression in Individuals with Single Large-Scale mitochondrial DNA deletion syndromes (SLSMDS). Genetics in Medicine 19(101386), February 2025 Notes: doi: 10.1016/j.gim.2025.101386.
George-Sankoh I, MacMullen LE, Chinwalla AT, Taylor D, Ganetzky RD, Stanley K, McCormick EM, Zolkipli-Cunningham Z, Falk MJ: MMFP-Tableau: Enabling Precision Mitochondrial Medicine through Integration, Visualization, and Analytics of Clinical and Research Health System Electronic Data. JAMAIA Open 7(5), December 2024 Notes: https://doi.org/10.1093/jamiaopen/ooae134
Lavorato M, Iadarola D, Remes C, Kaur P, Broxton C, Mathew ND, Xiao R, Seiler C, Nakamaru-Ogiso E, Anderson VE, Falk MJ: dldhcri3 zebrafish exhibited altered mitochondrial ultrastructure, morphology and dysfunction partially rescued by probucol or thiamine. JCI Insight Online ahead of print, August 2024 Notes: doi: 10.1172/jci.insight.178973.
Boris JR, Shadiack EC, McCormick EM, MacMullen L, George-Sankoh I, Falk MJ: The Long Term POTS Outcomes Study (LT-POTS): Diagnosis, Therapy, and Clinical Outcomes. J Am Heart Assoc 16(13): 14, July 2024 Notes: doi: 10.1161/JAHA.123.033485.
Lanvin PL, Li D, Conrad S, Magot A, Micaelli X, Péréon Y, Vincent M, Isidor B, Sternberg D, McCormick EM, Hakonarson H, Mercier S, Falk MJ: Expanding the Spectrum of Congenital Myopathy Linked to Variants in the MYBPC1 Gene: A Clinical Report. Neurol Clin Pract 14(3), June 2024.
MacMullen LE, George-Sankoh I, Stanley K, McCormick EM, Muraresku CC, Goldstein A, Zolkipli-Cunningham Z, Falk MJ: Bridging the clinical-research gap: Harnessing an electronic data capture, integration, and visualization platform to systematically assess prospective patient-reported outcomes in mitochondrial medicine. Mol Genet Metab 142(1), May 2024.
Sharma S, Magnitsky S, Reesey E, Schwartz M, Haroon S, Lavorato M, Chan S, Xiao R, Wilkins BJ, Martinez D, Seiler C, Falk MJ: Novel Development of Magnetic Resonance Imaging to Quantify the Structural Anatomic Growth of Diverse Organs in Adult and Mutant Zebrafish. Zebrafish 21(1): 28-38, February 2024.
Shen L, Falk MJ, Gai X. MSeqDR Quick-Mitome (QM): Combining Phenotype-Guided Variant Interpretation and Machine Learning Classifiers to Aid Primary Mitochondrial Disease Genetic Diagnosis. Curr Protoc 4(1), January 2024.
Kilich G, Hassey K, Behrens EM, Falk M, Vanderver A, Rader DJ, Cahill PJ, Raper A, Zhang Z, Westerfer D, Jadhav T, Conlin L, Izumi K, Rajagopalan R, Sullivan KE; UDN Consortium: Kagami Ogata syndrome: a small deletion refines critical region for imprinting. NPJ Genom Med 9(1), January 2024.
back to top
Last updated: 05/06/2025
The Trustees of the University of Pennsylvania
