MarniJoyFalkMD

Clinical Genetics, Pediatric Medical Genetics

Professor, Division of Human Genetics, Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania

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Office
3615 Civic Center Blvd
Children's Hospital Of Philadelphia - Genetics
Philadelphia, PA 19104
Phone+1 267-426-4961

Fax+1 267-426-4961

Dr. Marni Falk is a medical geneticist in Philadelphia, PA and is affiliated with multiple hospitals in the area, including Hospital of the University of Pennsylvania and Children's Hospital of Philadelphia. She received her medical degree from George Washington University School of Medicine and has been in practice 17 years. She specializes in clinical genetics.

Case Western Reserve University/University Hospitals Cleveland Medical CenterResidency, Pediatrics/Medical Genetics and Genomics, 2000 - 2005
George Washington University School of Medicine and Health SciencesClass of 2000
George Washington University School of MedicineB.S., Biology, Summa cum Laude

PubMed

3 citations
Long-Term POTS Outcomes Survey: Diagnosis, Therapy, and Clinical Outcomes.
Jeffrey R Boris, Edward C Shadiack 3rd, Elizabeth M McCormick, Laura MacMullen, Ibrahim George-Sankoh
Journal of the American Heart Association. 2024-07-16
-Glycosylation of MRS2 balances aerobic and anaerobic energy production by reducing rapid mitochondrial Mginflux in conditions of high glucose or impaired respiratory ...
Min Peng, Neal D Mathew, Vernon E Anderson, Marni J Falk, Eiko Nakamaru-Ogiso
Biorxiv. 2024-07-09
1 citations
Bridging the clinical-research gap: Harnessing an electronic data capture, integration, and visualization platform to systematically assess prospective patient-reporte...
Laura E MacMullen, Ibrahim George-Sankoh, Katelynn Stanley, Elizabeth M McCormick, Colleen C Muraresku
Molecular Genetics and Metabolism. 2024-05-01

Journal Articles

KAT6A Syndrome: Genotype–Phenotype Correlation in 76 Patients with Pathogenic KAT6A Variants
Valerie A Arboleda, Marni J Falk, Stanley F Nelson, Hakon Hakonarson, Susan Schelley, Nature
Muscle Oxidative Phosphorylation Quantitation Using Creatine Chemical Exchange Saturation Transfer (CrCEST) MRI in Mitochondrial Disorders
Ravinder Reddy, Marni J Falk, Marc Yudkoff, Katherine L Nathanson, Shana E McCormack, The Journal of Clinical Investigation

Researchers Develop First Effective Preclinical Models for Most Common Genetic Cause of Leigh SyndromeFebruary 21st, 2023
Researchers Characterize Hearing Loss Among Genetic Subtypes of Mitochondrial DiseaseOctober 15th, 2022
CHOP Researchers to Lead Department of Defense Project to Measure Mitochondrial Function and Better Detect Mitochondrial DiseaseOctober 4th, 2022
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Ppar/Sirt1 Pathway In C. ElegansEunice Kennedy Shriver National Institute Of Child Health &Human Development2010–2011
Pharmacologic Treatment Of Mitochondrial Complex I Dysfunction In C. ElegansEunice Kennedy Shriver National Institute Of Child Health &Human Development2010–2011
Transcriptional Profiling Of Metabolic Pathways In Mitochondrial DiseaseNational Institute Of Diabetes And Digestive And Kidney Diseases2009–2010
Translational Genomic Study Of Mitochondrial Complex I Dysfunction In C. ElegansNational Institute Of Diabetes And Digestive And Kidney Diseases2006–2009
Genomic Study Of Mitochondrial Complex I Dysfunction InNational Institute Of Diabetes And Digestive And Kidney Diseases2005