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Office
3615 Civic Center Blvd
Children's Hospital Of Philadelphia - Genetics
Philadelphia, PA 19104Phone+1 267-426-4961Fax+1 267-426-4961- Is this information wrong?
Summary
- 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.
Education & Training
- 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
Certifications & Licensure
- PA State Medical License 2006 - 2024
- OH State Medical License 2000 - 2007
- American Board of Medical Genetics and Genomics Clinical Genetics
Awards, Honors, & Recognition
- Alpha Omega Alpha Medical Honor Society
- Phi Beta Kappa
Clinical Trials
- North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC) Start of enrollment: 2010 Dec 01
- Phase 2a Study of IW-6463 in Adults Diagnosed With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes (MELAS) Start of enrollment: 2020 Nov 13
- Trial of Dichloroacetate in Pyruvate Dehydrogenase Complex Deficiency: Start of enrollment: 2020 Jul 14
Roles: Contact
Publications & Presentations
PubMed
- 6 citationsVariants in ADD1 cause intellectual disability, corpus callosum dysgenesis, and ventriculomegaly in humansCai Qi, Irena Feng, Ana Costa, Rita Pinto-Costa, Jennifer E. Neil, Oana Caluseriu, Dong Li, Rebecca D. Ganetzky, Charlotte Brasch-Andersen, Christina Fagerberg, Lars K...> ;Genetics in Medicine. 2021 Nov 1
- 11 citationsTrisomy 9 mosaic syndrome: Sixteen additional patients with new and/or less commonly reported features, literature review, and suggested clinical guidelines.Mindy H. Li, Jennifer Glass, Xiaoli Du, Holly Dubbs, Margaret Harr, Marni J. Falk, Teresa A. Smolarek, Robert J. Hopkin, Elaine H. Zackai, Sarah E Sheppard> ;American Journal of Medical Genetics. Part A. 2021 Aug 1
- 18 citationsHuman Placental Transcriptome Reveals Critical Alterations in Inflammation and Energy Metabolism with Fetal Sex Differences in Spontaneous Preterm Birth.Yu-Chin Lien, Zhe Zhang, Yi Cheng, Erzsebet Polyak, Laura Sillers, Marni J. Falk, Harry Ischiropoulos, Samuel Parry, Rebecca A. Simmons> ;International Journal of Molecular Sciences. 2021 Jul 23
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Journal Articles
- KAT6A Syndrome: Genotype–Phenotype Correlation in 76 Patients with Pathogenic KAT6A VariantsValerie 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 DisordersRavinder Reddy, Marni J Falk, Marc Yudkoff, Katherine L Nathanson, Shana E McCormack, The Journal of Clinical Investigation
Press Mentions
- 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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Grant Support
- 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
Hospital Affiliations
- Hospital of the University of PennsylvaniaPhiladelphia, Pennsylvania
- Children's Hospital of PhiladelphiaPhiladelphia, Pennsylvania
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