Marni J Falk

Mitochondrial Medicine Frontier Program, The Children's Hospital of Philadelphia

Affiliated withThe Children's Hospital of Philadelphia University of Pennsylvania Perelman School of Medicine

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JoVE Journal Publications

ArticleTotal : 1	Year
Publication title	2026

Other Publications

Article	Year
Innovative genomic collaboration using the GENESIS (GEM.app) platform. Human mutation\| PubMed ID: 26173844	2015
Subcomplex Ilambda specifically controls integrated mitochondrial functions in Caenorhabditis elegans. PloS one\| PubMed ID: 19672299	2009
Mitochondrial respiratory chain dysfunction variably increases oxidant stress in Caenorhabditis elegans. Mitochondrion\| PubMed ID: 19900588	2010
Cross-platform expression microarray performance in a mouse model of mitochondrial disease therapy. Molecular genetics and metabolism\| PubMed ID: 19944634	2010
Neurodevelopmental manifestations of mitochondrial disease. Journal of developmental and behavioral pediatrics : JDBP\| PubMed ID: 20814259	2010
Mitochondrial genetic diseases. Current opinion in pediatrics\| PubMed ID: 21045694	2010
Probucol ameliorates renal and metabolic sequelae of primary CoQ deficiency in Pdss2 mutant mice. EMBO molecular medicine\| PubMed ID: 21567994	2011
Mitochondrial disorders and the eye. Current opinion in ophthalmology\| PubMed ID: 21730846	2011
Mitochondrial genome sequence analysis: a custom bioinformatics pipeline substantially improves Affymetrix MitoChip v2.0 call rate and accuracy. BMC bioinformatics\| PubMed ID: 22011106	2011
Fluorescence-activated cell sorting analysis of mitochondrial content, membrane potential, and matrix oxidant burden in human lymphoblastoid cell lines. Methods in molecular biology (Clifton, N.J.)\| PubMed ID: 22215552	2012
Molecular profiling of mitochondrial dysfunction in Caenorhabditis elegans. Methods in molecular biology (Clifton, N.J.)\| PubMed ID: 22215553	2012
Mitochondrial tRNA-serine (AGY) m.C12264T mutation causes severe multisystem disease with cataracts. Discovery medicine\| PubMed ID: 22369973	2012
NMNAT1 mutations cause Leber congenital amaurosis. Nature genetics\| PubMed ID: 22842227	2012
Molecular genetic testing for mitochondrial disease: from one generation to the next. Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics\| PubMed ID: 23269497	2013
Mitochondrial disease genetic diagnostics: optimized whole-exome analysis for all MitoCarta nuclear genes and the mitochondrial genome. Discovery medicine\| PubMed ID: 23272691	2012
Primary respiratory chain disease causes tissue-specific dysregulation of the global transcriptome and nutrient-sensing signaling network. PloS one\| PubMed ID: 23894440	2013
Mitochondrial respiratory chain disease discrimination by retrospective cohort analysis of blood metabolites. Molecular genetics and metabolism\| PubMed ID: 23920046	2013
In vivo metabolic flux profiling with stable isotopes discriminates sites and quantifies effects of mitochondrial dysfunction in C. elegans. Molecular genetics and metabolism\| PubMed ID: 24445252	2014
AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate. JIMD reports\| PubMed ID: 24515575	2014
Mitochondrial DNA variant in COX1 subunit significantly alters energy metabolism of geographically divergent wild isolates in Caenorhabditis elegans. Journal of molecular biology\| PubMed ID: 24534730	2014
Integrated transcriptome analysis across mitochondrial disease etiologies and tissues improves understanding of common cellular adaptations to respiratory chain dysfunction. The international journal of biochemistry & cell biology\| PubMed ID: 24569120	2014
Limitations of preimplantation genetic diagnosis for mitochondrial DNA diseases. Cell reports\| PubMed ID: 24856294	2014
Erratum to: AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate. JIMD reports\| PubMed ID: 24973975	2014
Integrative analysis of independent transcriptome data for rare diseases. Methods (San Diego, Calif.)\| PubMed ID: 24981076	2014
Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome. Human molecular genetics\| PubMed ID: 25168386	2015
Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome. Journal of medical genetics\| PubMed ID: 25412741	2015
Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society. Genetics in medicine : official journal of the American College of Medical Genetics\| PubMed ID: 25503498	2015
Phy-Mer: a novel alignment-free and reference-independent mitochondrial haplogroup classifier. Bioinformatics (Oxford, England)\| PubMed ID: 25505086	2015
Mitochondrial Disease Sequence Data Resource (MSeqDR): a global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitocho... Molecular genetics and metabolism\| PubMed ID: 25542617	2015
Pharmacologic targeting of sirtuin and PPAR signaling improves longevity and mitochondrial physiology in respiratory chain complex I mutant Caenorhabditis elegans. Mitochondrion\| PubMed ID: 25744875	2015
Inhibiting cytosolic translation and autophagy improves health in mitochondrial disease. Human molecular genetics\| PubMed ID: 26041819	2015
Desmin common mutation is associated with multi-systemic disease manifestations and depletion of mitochondria and mitochondrial DNA. Frontiers in genetics\| PubMed ID: 26097489	2015
MitoTALEN: A General Approach to Reduce Mutant mtDNA Loads and Restore Oxidative Phosphorylation Function in Mitochondrial Diseases. Molecular therapy : the journal of the American Society of Gene Therapy\| PubMed ID: 26159306	2015
MSeqDR: A Centralized Knowledge Repository and Bioinformatics Web Resource to Facilitate Genomic Investigations in Mitochondrial Disease. Human mutation\| PubMed ID: 26919060	2016
A novel HSD17B10 mutation impairing the activities of the mitochondrial RNase P complex causes X-linked intractable epilepsy and neurodevelopmental regression. RNA biology\| PubMed ID: 26950678	2016
Early Infantile Epileptic Encephalopathy in an STXBP1 Patient with Lactic Acidemia and Normal Mitochondrial Respiratory Chain Function. Case reports in genetics\| PubMed ID: 27069701	2016
From case studies to community knowledge base: MSeqDR provides a platform for the curation and genomic analysis of mitochondrial diseases. Cold Spring Harbor molecular case studies\| PubMed ID: 27148591	2016
Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy. American journal of human genetics\| PubMed ID: 27236917	2016
International Paediatric Mitochondrial Disease Scale. Journal of inherited metabolic disease\| PubMed ID: 27277220	2016
GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers. American journal of human genetics\| PubMed ID: 27616483	2016
Nutritional interventions in primary mitochondrial disorders: Developing an evidence base. Molecular genetics and metabolism\| PubMed ID: 27665271	2016
Flunarizine rescues reduced lifespan in CLN3 triple knock-out Caenorhabditis elegans model of batten disease. Journal of inherited metabolic disease\| PubMed ID: 27766444	2017
Muscle oxidative phosphorylation quantitation using creatine chemical exchange saturation transfer (CrCEST) MRI in mitochondrial disorders. JCI insight\| PubMed ID: 27812541	2016
Pharmacologic modeling of primary mitochondrial respiratory chain dysfunction in zebrafish. Neurochemistry international\| PubMed ID: 28732770	2018
Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society. Genetics in medicine : official journal of the American College of Medical Genetics\| PubMed ID: 28749475	2017
Mitochondrial function requires NGLY1. Mitochondrion\| PubMed ID: 28750948	2018
Clinical effects of chemical exposures on mitochondrial function. Toxicology\| PubMed ID: 28757096	2017
Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome. American journal of human genetics\| PubMed ID: 28777931	2017
Propionyl-CoA carboxylase pcca-1 and pccb-1 gene deletions in Caenorhabditis elegans globally impair mitochondrial energy metabolism. Journal of inherited metabolic disease\| PubMed ID: 29159707	2018
Response to Newman et al. Genetics in medicine : official journal of the American College of Medical Genetics\| PubMed ID: 29215644	2017
PARP-1 Inhibition Rescues Short Lifespan in Hyperglycemic And Improves GLP-1 Secretion in Human Cells. Aging and disease\| PubMed ID: 29392078	2018
8-year retrospective analysis of intravenous arginine therapy for acute metabolic strokes in pediatric mitochondrial disease. Molecular genetics and metabolism\| PubMed ID: 29428506	2018
N-acetylcysteine and vitamin E rescue animal longevity and cellular oxidative stress in pre-clinical models of mitochondrial complex I disease. Molecular genetics and metabolism\| PubMed ID: 29526616	2018
MSeqDR mvTool: A mitochondrial DNA Web and API resource for comprehensive variant annotation, universal nomenclature collation, and reference genome conversion. Human mutation\| PubMed ID: 29539190	2018
Mitochondrial disease patient motivations and barriers to participate in clinical trials. PloS one\| PubMed ID: 29771953	2018
Mitochondrial disease genetics update: recent insights into the molecular diagnosis and expanding phenotype of primary mitochondrial disease. Current opinion in pediatrics\| PubMed ID: 30199403	2018
KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants. Genetics in medicine : official journal of the American College of Medical Genetics\| PubMed ID: 30245513	2019
Pre-clinical evaluation of cysteamine bitartrate as a therapeutic agent for mitochondrial respiratory chain disease. Human molecular genetics\| PubMed ID: 30668749	2019
Landscape of Germline and Somatic Mitochondrial DNA Mutations in Pediatric Malignancies. Cancer research\| PubMed ID: 30709931	2019
HIF-1α Stabilization Increases miR-210 Eliciting First Trimester Extravillous Trophoblast Mitochondrial Dysfunction. Frontiers in physiology\| PubMed ID: 31263422	2019
De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia. American journal of human genetics\| PubMed ID: 31353023	2019
Safety and efficacy of omaveloxolone in patients with mitochondrial myopathy: MOTOR trial. Neurology\| PubMed ID: 31896620	2020
Mitochondrial diseases in North America: An analysis of the NAMDC Registry. Neurology. Genetics\| PubMed ID: 32337332	2020
Clinical Bioinformatics in Precise Diagnosis of Mitochondrial Disease. Clinics in laboratory medicine\| PubMed ID: 32439066	2020
Pediatric Leigh Syndrome: Neuroimaging Features and Genetic Correlations. Annals of neurology\| PubMed ID: 32445240	2020
Correction: KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants. Genetics in medicine : official journal of the American College of Medical Genetics\| PubMed ID: 32814847	2020
The pursuit of precision mitochondrial medicine: Harnessing preclinical cellular and animal models to optimize mitochondrial disease therapeutic discovery. Journal of inherited metabolic disease\| PubMed ID: 33006762	2021
Predictors of outcome in children with disorders of mitochondrial metabolism in the pediatric intensive care unit. Pediatric research\| PubMed ID: 33627817	2021
Combinatorial glucose, nicotinic acid, and N-acetylcysteine therapy has synergistic effect in preclinical C. elegans and zebrafish models of mitochondrial complex I disease. Human molecular genetics\| PubMed ID: 33640978	2021
Understanding the phenotypic spectrum of ASXL-related disease: Ten cases and a review of the literature. American journal of medical genetics. Part A\| PubMed ID: 33751773	2021
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome. American journal of medical genetics. Part A\| PubMed ID: 33783954	2021
Variants in ADD1 cause intellectual disability, corpus callosum dysgenesis, and ventriculomegaly in humans. Genetics in medicine : official journal of the American College of Medical Genetics\| PubMed ID: 34906466	2022
Advanced approach for comprehensive mtDNA genome testing in mitochondrial disease. Molecular genetics and metabolism\| PubMed ID: 34969639	2022
Dichloroacetate improves mitochondrial function, physiology, and morphology in FBXL4 disease models. JCI insight\| PubMed ID: 35881484	2022
Pathogenic mtDNA variants, in particular single large-scale mtDNA deletions, are strongly associated with post-lingual onset sensorineural hearing loss in primary mitochondrial disease. Molecular genetics and metabolism\| PubMed ID: 36182714	2022
N-acetylcysteine and cysteamine bitartrate prevent azide-induced neuromuscular decompensation by restoring glutathione balance in two novel surf1-/- zebrafish deletion models of Leigh syndro... Human molecular genetics\| PubMed ID: 36795052	2023
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features. The Journal of clinical investigation\| PubMed ID: 37962958	2024
MSeqDR Quick-Mitome (QM): Combining Phenotype-Guided Variant Interpretation and Machine Learning Classifiers to Aid Primary Mitochondrial Disease Genetic Diagnosis. Current protocols\| PubMed ID: 38284225	2024
Bridging the clinical-research gap: Harnessing an electronic data capture, integration, and visualization platform to systematically assess prospective patient-reported outcomes in mitochond... Molecular genetics and metabolism\| PubMed ID: 38387305	2024
-Glycosylation of MRS2 balances aerobic and anaerobic energy production by reducing rapid mitochondrial Mg influx in conditions of high glucose or impaired respiratory chain function. bioRxiv : the preprint server for biology\| PubMed ID: 39026824	2024
dldhcri3 zebrafish exhibit altered mitochondrial ultrastructure, morphology, and dysfunction partially rescued by probucol or thiamine. JCI insight\| PubMed ID: 39163131	2024
Recognizing the evolution of clinical syndrome spectrum progression in individuals with single large-scale mitochondrial DNA deletion syndromes (SLSMDS). Genetics in medicine : official journal of the American College of Medical Genetics\| PubMed ID: 39985363	2025
Small-molecule hypoxia therapy in mitochondrial disease. Cell\| PubMed ID: 40118030	2025
Single Large-Scale Mitochondrial Deletion Syndromes: Neuroimaging Phenotypes and Longitudinal Progression in Pediatric Patients. AJNR. American journal of neuroradiology\| PubMed ID: 40210455	2025
Interpreting the clinical significance of multiple large-scale mitochondrial DNA deletions (MLSMD) in skeletal muscle tissue in the diagnostic evaluation of primary mitochondrial disease. Frontiers in pharmacology\| PubMed ID: 40271067	2025
Zebrafishology, study design guidelines for rigorous and reproducible data using zebrafish. Communications biology\| PubMed ID: 40360750	2025
Zagociguat prevented stressor-induced neuromuscular dysfunction, improved mitochondrial physiology, and increased exercise capacity in diverse mitochondrial respiratory chain disease zebrafi... Frontiers in pharmacology\| PubMed ID: 40786033	2025
ndufs2 zebrafish have impaired survival, neuromuscular activity, morphology, and one-carbon metabolism treatable with folic acid. bioRxiv : the preprint server for biology\| PubMed ID: 40791373	2025
Mitochondria transfer. Nature metabolism\| PubMed ID: 40866614	2025
The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency. Brain : a journal of neurology\| PubMed ID: 41239557	2026
High-concentration MEHP triggers mtDNA depletion in undifferentiated HepaRG and C2C12 cultures and disrupts mitochondrial homeostasis in both HepaRG culture states. Toxicological sciences : an official journal of the Society of Toxicology\| PubMed ID: 42054602	2026
Targeting the Mitochondrial Phenotype in Cockayne Syndrome Patient Cells: From Bioenergetic Fragility to Pharmacologic Rescue. bioRxiv : the preprint server for biology\| PubMed ID: 42232504	2026