Mitochondrial disease; Genetic basis of Mendelian disease; C. elegans models of mitochondrial disease and therapy
Mitochondrial Disease; Ophthalmologic Genetic Disease; Clinical Genetics
Selected Publications
Mendel RM, Matsuno S, Lu A, Falk MJ, Haroon S: Mitophagy modulation rescues single large-scale mitochondrial DNA deletion (SLSMD) disease symptoms in the C. elegans uaDf5 animal model. BioRxiv (preprint) October 2024 Notes: doi: https://doi.org/10.1101/2024.10.27.620333.
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.
Li D, Wang Q, Bayat A, Battig MR, Zhou Y, Bosch DG, van Haaften G, Granger L, Petersen AK, Pérez-Jurado LA, Aznar-Laín G, Aneja A, Hancarova M, Bendova S, Schwarz M, Kremlikova Pourova R, Sedlacek Z, Keena BA, March ME, Hou C, O'Connor N, Bhoj EJ, Harr MH, Lemire G, Boycott KM, Towne M, Li M, Tarnopolsky M, Brady L, Parker MJ, Faghfoury H, Parsley LK, Agolini E, Dentici ML, Novelli A, Wright M, Palmquist R, Lai K, Scala M, Striano P, Iacomino M, Zara F, Cooper A, Maarup TJ, Byler M, Lebel RR, Balci TB, Louie R, Lyons M, Douglas J, Nowak C, Afenjar A, Hoyer J, Keren B, Maas SM, Motazacker MM, Martinez-Agosto JA, Rabani AM, McCormick EM, Falk MJ, Ruggiero SM, Helbig I, Møller RS, Tessarollo L, Tomassoni Ardori F, Palko ME, Hsieh TC, Krawitz PM, Ganapathi M, Gelb BD, Jobanputra V, Wilson A, Greally J, Jacquemont S, Jizi K, Bruel AL, Quelin C, Misra VK, Chick E, Romano C, Greco D, Arena A, Morleo M, Nigro V, Seyama R, Uchiyama Y, Matsumoto N, Taira R, Tashiro K, Sakai Y, Yigit G, Wollnik B, Wagner M, Kutsche B, Hurst AC, Thompson ML, Schmidt R, Randolph L, Spillmann RC, Shashi V, Higginbotham EJ, Cordeiro D, Carnevale A, Costain G, Khan T, Funalot B, Tran Mau-Them F, Fernandez Garcia Moya L, García-Miñaúr S, Osmond M, Chad L, Quercia N, Carrasco D, Li C, Sanchez-Valle A, Kelley M, Nizon M, Jensson BO, Sulem P, Stefansson K, Gorokhova S, Busa T, Rio M, Hadj Habdallah H, Lesieur-Sebellin M, Amiel J, Pingault V, Mercier S, Vincent M, Philippe C, Fatus-Fauconnier C, Friend K, Halligan RK, Biswas S, Rosser J, Shoubridge C, Corbett M, Barnett C, Gecz J, Leppig K, Slavotinek A, Marcelis C, Pfundt R, de Vries BB, van Slegtenhorst MA, Brooks AS, Cogne B, Rambaud T, Tümer Z, Zackai EH, Akizu N, Song Y, Hakonarson H: Spliceosome malfunction causes neurodevelopmental disorders with overlapping features. J Clin Invest 134(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.
Burg L, Yoon H, Peng M, Haus E, Robinson M, Kaur P, Shah B, Germano P, Reesey-Gretzmacher E, Anderson VE, Nakamaru-Ogiso E, Falk MJ: Zagociguat prevented stressor-induced neuromuscular dysfunction, improved mitochondrial physiology, and increased exercise capacity in diverse primary mitochondrial respiratory chain disease zebrafish models. Frontiers in Pharmacology 2024 Notes: Submitted.
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Last updated: 10/29/2024
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