Marni J. Falk Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics The Children’s Hospital of Philadelphia Biography Publications Institution JoVE Articles Marni J. Falk has not added a biography. If you are Marni J. Falk and would like to personalize this page please email our Author Liaison for assistance. Publications Expanding the Genotypic and Phenotypic Spectrum in a Diverse Cohort of 104 Individuals with Wiedemann-Steiner Syndrome American Journal of Medical Genetics. Part A. Mar, 2021 | Pubmed ID: 33783954 Understanding the Phenotypic Spectrum of ASXL-related Disease: Ten Cases and a Review of the Literature American Journal of Medical Genetics. Part A. Mar, 2021 | Pubmed ID: 33751773 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. Feb, 2021 | Pubmed ID: 33640978 Predictors of Outcome in Children with Disorders of Mitochondrial Metabolism in the Pediatric Intensive Care Unit Pediatric Research. Feb, 2021 | Pubmed ID: 33627817 The Pursuit of Precision Mitochondrial Medicine: Harnessing Preclinical Cellular and Animal Models to Optimize Mitochondrial Disease Therapeutic Discovery Journal of Inherited Metabolic Disease. Mar, 2021 | Pubmed ID: 33006762 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. Nov, 2020 | Pubmed ID: 32814847 Pediatric Leigh Syndrome: Neuroimaging Features and Genetic Correlations Annals of Neurology. 08, 2020 | Pubmed ID: 32445240 Clinical Bioinformatics in Precise Diagnosis of Mitochondrial Disease Clinics in Laboratory Medicine. 06, 2020 | Pubmed ID: 32439066 Mitochondrial Diseases in North America: An Analysis of the NAMDC Registry Neurology. Genetics. Apr, 2020 | Pubmed ID: 32337332 Safety and Efficacy of Omaveloxolone in Patients with Mitochondrial Myopathy: MOTOR Trial Neurology. 02, 2020 | Pubmed ID: 31896620 De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia American Journal of Human Genetics. 08, 2019 | Pubmed ID: 31353023 HIF-1α Stabilization Increases MiR-210 Eliciting First Trimester Extravillous Trophoblast Mitochondrial Dysfunction Frontiers in Physiology. 2019 | Pubmed ID: 31263422 Landscape of Germline and Somatic Mitochondrial DNA Mutations in Pediatric Malignancies Cancer Research. 04, 2019 | Pubmed ID: 30709931 Pre-clinical Evaluation of Cysteamine Bitartrate As a Therapeutic Agent for Mitochondrial Respiratory Chain Disease Human Molecular Genetics. 06, 2019 | Pubmed ID: 30668749 KAT6A Syndrome: Genotype-phenotype Correlation in 76 Patients with Pathogenic KAT6A Variants Genetics in Medicine : Official Journal of the American College of Medical Genetics. 04, 2019 | Pubmed ID: 30245513 Mitochondrial Disease Genetics Update: Recent Insights into the Molecular Diagnosis and Expanding Phenotype of Primary Mitochondrial Disease Current Opinion in Pediatrics. 12, 2018 | Pubmed ID: 30199403 Mitochondrial Disease Patient Motivations and Barriers to Participate in Clinical Trials PloS One. 2018 | Pubmed ID: 29771953 MSeqDR MvTool: A Mitochondrial DNA Web and API Resource for Comprehensive Variant Annotation, Universal Nomenclature Collation, and Reference Genome Conversion Human Mutation. 06, 2018 | Pubmed ID: 29539190 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. 04, 2018 | Pubmed ID: 29526616 8-year Retrospective Analysis of Intravenous Arginine Therapy for Acute Metabolic Strokes in Pediatric Mitochondrial Disease Molecular Genetics and Metabolism. 03, 2018 | Pubmed ID: 29428506 PARP-1 Inhibition Rescues Short Lifespan in Hyperglycemic And Improves GLP-1 Secretion in Human Cells Aging and Disease. Feb, 2018 | Pubmed ID: 29392078 Propionyl-CoA Carboxylase Pcca-1 and Pccb-1 Gene Deletions in Caenorhabditis Elegans Globally Impair Mitochondrial Energy Metabolism Journal of Inherited Metabolic Disease. 03, 2018 | Pubmed ID: 29159707 Nutritional Interventions for Mitochondrial OXPHOS Deficiencies: Mechanisms and Model Systems Annual Review of Pathology. 01, 2018 | Pubmed ID: 29099651 Mitochondrial Function Requires NGLY1 Mitochondrion. 01, 2018 | Pubmed ID: 28750948 Pharmacologic Modeling of Primary Mitochondrial Respiratory Chain Dysfunction in Zebrafish Neurochemistry International. 07, 2018 | Pubmed ID: 28732770 Response to Newman Et Al Genetics in Medicine : Official Journal of the American College of Medical Genetics. 12, 2017 | Pubmed ID: 29215644 Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome American Journal of Human Genetics. Aug, 2017 | Pubmed ID: 28777931 Clinical Effects of Chemical Exposures on Mitochondrial Function Toxicology. 11, 2017 | Pubmed ID: 28757096 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. 12, 2017 | Pubmed ID: 28749475 Flunarizine Rescues Reduced Lifespan in CLN3 Triple Knock-out Caenorhabditis Elegans Model of Batten Disease Journal of Inherited Metabolic Disease. 03, 2017 | Pubmed ID: 27766444 Muscle Oxidative Phosphorylation Quantitation Using Creatine Chemical Exchange Saturation Transfer (CrCEST) MRI in Mitochondrial Disorders JCI Insight. Nov, 2016 | Pubmed ID: 27812541 Nutritional Interventions in Primary Mitochondrial Disorders: Developing an Evidence Base Molecular Genetics and Metabolism. 11, 2016 | Pubmed ID: 27665271 GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers American Journal of Human Genetics. Oct, 2016 | Pubmed ID: 27616483 International Paediatric Mitochondrial Disease Scale Journal of Inherited Metabolic Disease. 09, 2016 | Pubmed ID: 27277220 Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy American Journal of Human Genetics. 06, 2016 | Pubmed ID: 27236917 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. May, 2016 | Pubmed ID: 27148591 Early Infantile Epileptic Encephalopathy in an STXBP1 Patient with Lactic Acidemia and Normal Mitochondrial Respiratory Chain Function Case Reports in Genetics. 2016 | Pubmed ID: 27069701 A Novel HSD17B10 Mutation Impairing the Activities of the Mitochondrial RNase P Complex Causes X-linked Intractable Epilepsy and Neurodevelopmental Regression RNA Biology. May, 2016 | Pubmed ID: 26950678 MSeqDR: A Centralized Knowledge Repository and Bioinformatics Web Resource to Facilitate Genomic Investigations in Mitochondrial Disease Human Mutation. 06, 2016 | Pubmed ID: 26919060 Innovative Genomic Collaboration Using the GENESIS (GEM.app) Platform Human Mutation. Oct, 2015 | Pubmed ID: 26173844 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. Oct, 2015 | Pubmed ID: 26159306 Desmin Common Mutation is Associated with Multi-systemic Disease Manifestations and Depletion of Mitochondria and Mitochondrial DNA Frontiers in Genetics. 2015 | Pubmed ID: 26097489 Inhibiting Cytosolic Translation and Autophagy Improves Health in Mitochondrial Disease Human Molecular Genetics. Sep, 2015 | Pubmed ID: 26041819 Pharmacologic Targeting of Sirtuin and PPAR Signaling Improves Longevity and Mitochondrial Physiology in Respiratory Chain Complex I Mutant Caenorhabditis Elegans Mitochondrion. May, 2015 | Pubmed ID: 25744875 Mitochondrial Disease Sequence Data Resource (MSeqDR): a Global Grass-roots Consortium to Facilitate Deposition, Curation, Annotation, and Integrated Analysis of Genomic Data for the Mitochondrial Disease Clinical and Research Communities Molecular Genetics and Metabolism. Mar, 2015 | Pubmed ID: 25542617 Phy-Mer: a Novel Alignment-free and Reference-independent Mitochondrial Haplogroup Classifier Bioinformatics (Oxford, England). Apr, 2015 | Pubmed ID: 25505086 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. Sep, 2015 | Pubmed ID: 25503498 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. Feb, 2015 | Pubmed ID: 25412741 Mutations in IFT172 Cause Isolated Retinal Degeneration and Bardet-Biedl Syndrome Human Molecular Genetics. Jan, 2015 | Pubmed ID: 25168386 Integrative Analysis of Independent Transcriptome Data for Rare Diseases Methods (San Diego, Calif.). Oct, 2014 | Pubmed ID: 24981076 Erratum To: AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate JIMD Reports. 2014 | Pubmed ID: 24973975 Limitations of Preimplantation Genetic Diagnosis for Mitochondrial DNA Diseases Cell Reports. May, 2014 | Pubmed ID: 24856294 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. May, 2014 | Pubmed ID: 24569120 Mitochondrial DNA Variant in COX1 Subunit Significantly Alters Energy Metabolism of Geographically Divergent Wild Isolates in Caenorhabditis Elegans Journal of Molecular Biology. May, 2014 | Pubmed ID: 24534730 AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate JIMD Reports. 2014 | Pubmed ID: 24515575 In Vivo Metabolic Flux Profiling with Stable Isotopes Discriminates Sites and Quantifies Effects of Mitochondrial Dysfunction in C. Elegans Molecular Genetics and Metabolism. Mar, 2014 | Pubmed ID: 24445252 Mitochondrial Respiratory Chain Disease Discrimination by Retrospective Cohort Analysis of Blood Metabolites Molecular Genetics and Metabolism. Sep-Oct, 2013 | Pubmed ID: 23920046 Primary Respiratory Chain Disease Causes Tissue-specific Dysregulation of the Global Transcriptome and Nutrient-sensing Signaling Network PloS One. 2013 | Pubmed ID: 23894440 Prevalence of Rare Mitochondrial DNA Mutations in Mitochondrial Disorders Journal of Medical Genetics. Oct, 2013 | Pubmed ID: 23847141 Molecular Genetic Testing for Mitochondrial Disease: from One Generation to the Next Neurotherapeutics : the Journal of the American Society for Experimental NeuroTherapeutics. Apr, 2013 | Pubmed ID: 23269497 Mitochondrial Disease Genetic Diagnostics: Optimized Whole-exome Analysis for All MitoCarta Nuclear Genes and the Mitochondrial Genome Discovery Medicine. Dec, 2012 | Pubmed ID: 23272691 NMNAT1 Mutations Cause Leber Congenital Amaurosis Nature Genetics. Sep, 2012 | Pubmed ID: 22842227 Mitochondrial TRNA-serine (AGY) M.C12264T Mutation Causes Severe Multisystem Disease with Cataracts Discovery Medicine. Feb, 2012 | Pubmed ID: 22369973 Molecular Profiling of Mitochondrial Dysfunction in Caenorhabditis Elegans Methods in Molecular Biology (Clifton, N.J.). 2012 | Pubmed ID: 22215553 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.). 2012 | Pubmed ID: 22215552 Update of PAX2 Mutations in Renal Coloboma Syndrome and Establishment of a Locus-specific Database Human Mutation. Mar, 2012 | Pubmed ID: 22213154 Optical Reversal of Halothane-induced Immobility in C. Elegans Current Biology : CB. Dec, 2011 | Pubmed ID: 22137475 Mitochondrial Genome Sequence Analysis: a Custom Bioinformatics Pipeline Substantially Improves Affymetrix MitoChip V2.0 Call Rate and Accuracy BMC Bioinformatics. 2011 | Pubmed ID: 22011106 Parkinson's Disease-like Neuromuscular Defects Occur in Prenyl Diphosphate Synthase Subunit 2 (Pdss2) Mutant Mice Mitochondrion. Oct, 2011 | Pubmed ID: 21983691 Mitochondrial Disorders and the Eye Current Opinion in Ophthalmology. Sep, 2011 | Pubmed ID: 21730846 Probucol Ameliorates Renal and Metabolic Sequelae of Primary CoQ Deficiency in Pdss2 Mutant Mice EMBO Molecular Medicine. Jul, 2011 | Pubmed ID: 21567994 Mitochondrial Genetic Diseases Current Opinion in Pediatrics. Dec, 2010 | Pubmed ID: 21045694 Bacteria, Yeast, Worms, and Flies: Exploiting Simple Model Organisms to Investigate Human Mitochondrial Diseases Developmental Disabilities Research Reviews. Jun, 2010 | Pubmed ID: 20818735 Introduction: Emerging Research in Mitochondrial Disease Developmental Disabilities Research Reviews. Jun, 2010 | Pubmed ID: 20818723 Neurodevelopmental Manifestations of Mitochondrial Disease Journal of Developmental and Behavioral Pediatrics : JDBP. Sep, 2010 | Pubmed ID: 20814259 Leucine-rich Pentatricopeptide-repeat Containing Protein Regulates Mitochondrial Transcription Biochemistry. Sep, 2010 | Pubmed ID: 20677761 Cross-platform Expression Microarray Performance in a Mouse Model of Mitochondrial Disease Therapy Molecular Genetics and Metabolism. Mar, 2010 | Pubmed ID: 19944634 Mitochondrial Respiratory Chain Dysfunction Variably Increases Oxidant Stress in Caenorhabditis Elegans Mitochondrion. Mar, 2010 | Pubmed ID: 19900588 A Modern Approach to the Treatment of Mitochondrial Disease Current Treatment Options in Neurology. Nov, 2009 | Pubmed ID: 19891905 Subcomplex Ilambda Specifically Controls Integrated Mitochondrial Functions in Caenorhabditis Elegans PloS One. 2009 | Pubmed ID: 19672299 Primary Coenzyme Q Deficiency in Pdss2 Mutant Mice Causes Isolated Renal Disease PLoS Genetics. Apr, 2008 | Pubmed ID: 18437205 The In-depth Evaluation of Suspected Mitochondrial Disease Molecular Genetics and Metabolism. May, 2008 | Pubmed ID: 18243024 Mitochondrial Disease: a Practical Approach for Primary Care Physicians Pediatrics. Dec, 2007 | Pubmed ID: 18055683 Mitochondrial Complex I Function Modulates Volatile Anesthetic Sensitivity in C. Elegans Current Biology : CB. Aug, 2006 | Pubmed ID: 16920626 Maternal Uniparental Disomy Chromosome 14: Case Report and Literature Review Pediatric Neurology. Feb, 2005 | Pubmed ID: 15664772 The Primary Care Physician's Approach to Congenital Anomalies Primary Care. Sep, 2004 | Pubmed ID: 15331250 Cohen Syndrome in the Ohio Amish American Journal of Medical Genetics. Part A. Jul, 2004 | Pubmed ID: 15211651 Medical Geneticists' Duty to Warn At-risk Relatives for Genetic Disease American Journal of Medical Genetics. Part A. Jul, 2003 | Pubmed ID: 12838558 Intravenous Bisphosphonate Therapy in Children with Osteogenesis Imperfecta Pediatrics. Mar, 2003 | Pubmed ID: 12612238 Сравнительный анализ экспериментальных методов количественной оценки активности животных в моделях митохондриальной болезни Caenorhabditis elegans Manuela Lavorato*1, Neal D. Mathew*1, Nina Shah1, Eiko Nakamaru-Ogiso1,2, Marni J. Falk1,2 1Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children’s Hospital of Philadelphia, 2Department of Pediatrics, University of Pennsylvania Perelman School of Medicine JoVE 62244 Behavior Стабильный Изотопный Профилирование посредник Flux Метаболический в развивающихся странах и взрослой стадии Caenorhabditis Элеганс Marni J. Falk1,2, Meera Rao*1, Julian Ostrovsky*1, Evgueni Daikhin1, Ilana Nissim1, Marc Yudkoff1,2 1Department of Pediatrics, The Children's Hospital of Philadelphia, 2Department of Pediatrics, University of Pennsylvania JoVE 2288 Biology
Сравнительный анализ экспериментальных методов количественной оценки активности животных в моделях митохондриальной болезни Caenorhabditis elegans Manuela Lavorato*1, Neal D. Mathew*1, Nina Shah1, Eiko Nakamaru-Ogiso1,2, Marni J. Falk1,2 1Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children’s Hospital of Philadelphia, 2Department of Pediatrics, University of Pennsylvania Perelman School of Medicine JoVE 62244 Behavior
Стабильный Изотопный Профилирование посредник Flux Метаболический в развивающихся странах и взрослой стадии Caenorhabditis Элеганс Marni J. Falk1,2, Meera Rao*1, Julian Ostrovsky*1, Evgueni Daikhin1, Ilana Nissim1, Marc Yudkoff1,2 1Department of Pediatrics, The Children's Hospital of Philadelphia, 2Department of Pediatrics, University of Pennsylvania JoVE 2288 Biology
