Assistant Professor, Pediatrics, Perelman School of Medicine
Medical Genetics
Dr. Marni J. Falk, MD
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Marni Falk practices Medical Genetics. He went to George Washington University School of Medicine. George Washington University School of Medicine is ranked 67/0 in Research/PrimaryCare. Dr. Marni J. Falk has written publications. He has 55 publications published with PubMed. The lastest publication is: 'A prospective, randomized, and controlled study of fluid management in children with severe head injury: lactated Ringer's solution versus hypertonic saline.'
Publications
- The circadian gene Rev-erbα improves cellular bioenergetics and provides preconditioning for protection against oxidative stress.
- Mitochondrial Replacement Techniques - Implications for the Clinical Community.
- Pharmacologic targeting of sirtuin and PPAR signaling improves longevity and mitochondrial physiology in respiratory chain complex I mutant Caenorhabditis elegans.
- Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society.
- Mitochondrial Disease Sequence Data Resource (MSeqDR): A global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genom...
- Phy-Mer: a novel alignment-free and reference-independent mitochondrial haplogroup classifier.
- 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.
- Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome.
- Erratum to: AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate.
- Integrative analysis of independent transcriptome data for rare diseases.
- Limitations of preimplantation genetic diagnosis for mitochondrial DNA diseases.
- In vivo metabolic flux profiling with stable isotopes discriminates sites and quantifies effects of mitochondrial dysfunction in C. elegans.
- AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate.
- Mitochondrial DNA Variant in COX1 Subunit Significantly Alters Energy Metabolism of Geographically Divergent Wild Isolates in Caenorhabditis elegans.
- Integrated transcriptome analysis across mitochondrial disease etiologies and tissues improves understanding of common cellular adaptations to respiratory chain dysfun...
- Mutations in FBXL4, Encoding a Mitochondrial Protein, Cause Early-Onset Mitochondrial Encephalomyopathy.
- Mitochondrial respiratory chain disease discrimination by retrospective cohort analysis of blood metabolites.
- Practice patterns of mitochondrial disease physicians in North America. Part 1: Diagnostic and clinical challenges.
- Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders.
- Molecular Genetic Testing for Mitochondrial Disease: From One Generation to the Next.
- Mitochondrial disease genetic diagnostics: optimized whole-exome analysis for all MitoCarta nuclear genes and the mitochondrial genome.
- NMNAT1 mutations cause Leber congenital amaurosis.
- Molecular Profiling of Mitochondrial Dysfunction in Caenorhabditis elegans.
- Fluorescence-activated cell sorting analysis of mitochondrial content, membrane potential, and matrix oxidant burden in human lymphoblastoid cell lines.
- Optical reversal of halothane-induced immobility in C. elegans.
- Mitochondrial Genome Sequence Analysis: A custom bioinformatics pipeline substantially improves Affymetrix MitoChip v2.0 call rate and accuracy.
- Parkinson's disease-like neuromuscular defects occur in prenyl diphosphate synthase subunit 2 (Pdss2) mutant mice.
- Mitochondrial disorders and the eye.
- Probucol ameliorates renal and metabolic sequelae of primary CoQ deficiency in Pdss2 mutant mice.
- Stable isotopic profiling of intermediary metabolic flux in developing and adult stage Caenorhabditis elegans.
- Mitochondrial genetic diseases.
- Leucine-rich pentatricopeptide-repeat containing protein regulates mitochondrial transcription.
- Neurodevelopmental manifestations of mitochondrial disease.
- Bacteria, yeast, worms, and flies: exploiting simple model organisms to investigate human mitochondrial diseases.
- Introduction: Emerging research in mitochondrial disease.
- Cross-platform expression microarray performance in a mouse model of mitochondrial disease therapy.
- A modern approach to the treatment of mitochondrial disease.
- Subcomplex Ilambda specifically controls integrated mitochondrial functions in Caenorhabditis elegans.
- Primary coenzyme Q deficiency in Pdss2 mutant mice causes isolated renal disease.
- Mitochondrial disease: a practical approach for primary care physicians.
- Maternal uniparental disomy chromosome 14: case report and literature review.
- The primary care physician's approach to congenital anomalies.
- Cohen syndrome in the Ohio Amish.
- Medical Geneticists' duty to warn at-risk relatives for genetic disease.
- Intravenous bisphosphonate therapy in children with osteogenesis imperfecta.
- Mitochondrial tRNA-serine (AGY) m.C12264T mutation causes severe multisystem disease with cataracts.
- Mitochondrial respiratory chain dysfunction variably increases oxidant stress in Caenorhabditis elegans.
- Mitochondrial complex I function modulates volatile anesthetic sensitivity in C. elegans.
- The in-depth evaluation of suspected mitochondrial disease.
- Metabolic pathway profiling of mitochondrial respiratory chain mutants in C. elegans.
- Propionyl-CoA and adenosylcobalamin metabolism in Caenorhabditis elegans: evidence for a role of methylmalonyl-CoA epimerase in intermediary metabolism.
- Large genomic deletions: a novel cause of Ullrich congenital muscular dystrophy.
- A prospective, randomized, and controlled study of fluid management in children with severe head injury: lactated Ringer's solution versus hypertonic saline.
- Primary respiratory chain disease causes tissue-specific dysregulation of the global transcriptome and nutrient-sensing signaling network.
Schools
George Washington University School of Medicine And Health Sciences
Rainbow Babies Chldns Hospital
Doctors Specialties
- Clinical Genetics
- Pediatrics
- Medical Genetics
Accepted Insurances
- Aetna HMO
- Choice Plus POS II
- Local Value Network EPO
- Local Value Network HMO
- Local Value Network HMO+
- Local Value Network POS+
- Local Value Network PPO
- Personal Choice PPO
- Regional Pref Network EPO
- Regional Pref Network HMO
- Regional Pref Network HMO+
- Regional Pref Network POS+
- Regional Pref Network PPO
- Blue Card PPO
- Capital Blue Cross
- Cigna
- Commercial Insurance Company
- First Health (Coventry Health Care) PPO
- Geisinger Health Plan
- Community Blue PPO
- Advance EPO
- Direct Access
- Horizon Blue Cross Blue Shield HMO
- Horizon Blue Cross Blue Shield POS
- Horizon Blue Cross Blue Shield PPO
- Choice Care PPO
- Keystone Health Plan East HMO
- Medicaid
- Medicare MCR
- MultiPlan PPO
- Freedom Plan
- QualCare HMO
- QualCare PPO
- Choice Plus POS
- Navigate HMO
- Navigate POS
- Options PPO
- Oxford Liberty
- United Healthcare
Education
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Case Western Reserve University - University Hospitals -
George Washington University School of Medicine
Hospital
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Hospital of the University of Pennsylvania
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