Marni J. Falk

Department of Pediatrics, The Children's Hospital of Philadelphia

Affiliated withThe Children's Hospital of Philadelphia University of Pennsylvania The Children’s Hospital of Philadelphia

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JoVE Journal Publications

ArticleTotal : 2	Year
Publication title Cited by 12	2011
Publication title Cited by 5	2021

Other Publications

Article	Year
Intravenous bisphosphonate therapy in children with osteogenesis imperfecta. Pediatrics\| PubMed ID: 12612238	2003
Medical Geneticists' duty to warn at-risk relatives for genetic disease. American journal of medical genetics. Part A\| PubMed ID: 12838558	2003
Cohen syndrome in the Ohio Amish. American journal of medical genetics. Part A\| PubMed ID: 15211651	2004
The primary care physician's approach to congenital anomalies. Primary care\| PubMed ID: 15331250	2004
Maternal uniparental disomy chromosome 14: case report and literature review. Pediatric neurology\| PubMed ID: 15664772	2005
Mitochondrial complex I function modulates volatile anesthetic sensitivity in C. elegans. Current biology : CB\| PubMed ID: 16920626	2006
Mitochondrial disease: a practical approach for primary care physicians. Pediatrics\| PubMed ID: 18055683	2007
The in-depth evaluation of suspected mitochondrial disease. Molecular genetics and metabolism\| PubMed ID: 18243024	2008
Primary coenzyme Q deficiency in Pdss2 mutant mice causes isolated renal disease. PLoS genetics\| PubMed ID: 18437205	2008
Subcomplex Ilambda specifically controls integrated mitochondrial functions in Caenorhabditis elegans. PloS one\| PubMed ID: 19672299	2009
A modern approach to the treatment of mitochondrial disease. Current treatment options in neurology\| PubMed ID: 19891905	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
Leucine-rich pentatricopeptide-repeat containing protein regulates mitochondrial transcription. Biochemistry\| PubMed ID: 20677761	2010
Neurodevelopmental manifestations of mitochondrial disease. Journal of developmental and behavioral pediatrics : JDBP\| PubMed ID: 20814259	2010
Introduction: Emerging research in mitochondrial disease. Developmental disabilities research reviews\| PubMed ID: 20818723	2010
Bacteria, yeast, worms, and flies: exploiting simple model organisms to investigate human mitochondrial diseases. Developmental disabilities research reviews\| PubMed ID: 20818735	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
Parkinson's disease-like neuromuscular defects occur in prenyl diphosphate synthase subunit 2 (Pdss2) mutant mice. Mitochondrion\| PubMed ID: 21983691	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
Optical reversal of halothane-induced immobility in C. elegans. Current biology : CB\| PubMed ID: 22137475	2011
Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database. Human mutation\| PubMed ID: 22213154	2012
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
Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders. Journal of medical genetics\| PubMed ID: 23847141	2013
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
Innovative genomic collaboration using the GENESIS (GEM.app) platform. Human mutation\| PubMed ID: 26173844	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
Nutritional Interventions for Mitochondrial OXPHOS Deficiencies: Mechanisms and Model Systems. Annual review of pathology\| PubMed ID: 29099651	2018
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