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

118 citations
Mutations in FBXL4, Encoding a Mitochondrial Protein, Cause Early-Onset Mitochondrial Encephalomyopathy
Xiaowu Gai, Daniele Ghezzi, Mark A. Johnson, Caroline Biagosch, Hanan E. Shamseldin
American Journal of Human Genetics. 2013-09-05
130 citations
MitoTALEN: A General Approach to Reduce Mutant mtDNA Loads and Restore Oxidative Phosphorylation Function in Mitochondrial Diseases
Masami Hashimoto, Sandra R. Bacman, Susana Peralta, Marni J. Falk, Anne Chomyn
Molecular Therapy. 2015-10-01
7 citations
Variants in ADD1 cause intellectual disability, corpus callosum dysgenesis, and ventriculomegaly in humans
Cai Qi, Irena Feng, Ana Costa, Rita Pinto-Costa, Jennifer E. Neil
Genetics in Medicine. 2021-11-01

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