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Marni Falk

Assistant Professor

University of Pennsylvania

United States

Research Interests

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Articles (13)

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2026

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2026

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2026

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2026

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2026

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2025

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2025

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2020

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2020

Collaborators (16)

Christina Lam

Associate Professor

University of Washington

UNITED STATES

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Yasemin Sancak

University of Washington

UNITED STATES

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Rebecca Ganetzky

Associate Professor

Children's Hospital of Philadelphia

UNITED STATES

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Matthew Young

Tenured Associate Professor

SIU School of Medicine

UNITED STATES

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Ralph J. DeBerardinis

University of Texas Southwestern Medical Center

UNITED STATES

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Julien Baruteau

Professor of Paediatric Metabolic Medicine

University College London

UNITED KINGDOM

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James Peterson

MS, LCGC

Children's Hospital of Philadelphia

UNITED STATES

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Bobby Ng

Staff Scientist

Sanford Burnham Prebys Medical Discovery Institute

UNITED STATES

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Yi Xing

Professor

University of Pennsylvania

UNITED STATES

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Quan Chen

Professor

Nankai University

CHINA

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Lan Lin

Assistant Professor

UNITED STATES

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Helene Puccio

Research Director - Team leader

INSERM

FRANCE

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Ana Victoria Lechuga-Vieco

Junior Group Leader

IRB Barcelona

SPAIN

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Andrew Edmondson

University of Pennsylvania

UNITED STATES

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Rubén Quintana-Cabrera

Principal Investigator (Científico Titular)

Instituto de Neurobiología Ramón y Cajal

SPAIN

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Ingo Helbig

Children's Hospital of Philadelphia

UNITED STATES

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Marni Falk

Research Interests

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Articles (13)

Targeted long-read RNA sequencing for rare disease diagnosis and variant interpretation

High-concentration MEHP triggers mtDNA depletion in undifferentiated HepaRG and C2C12 cultures and disrupts mitochondrial homeostasis in both HepaRG culture states

Rare science, real impact: shaping the future of research on rare metabolic diseases

Advances in diagnosis of mitochondrial dysfunction and primary mitochondrial disease

MSeqDR PMD-VR: An Expert-Curated Virtual Registry of 11,000 Mitochondrial Disease Cases Established Through Literature Mining and Generative AI Augmentation

Mitochondria transfer

Long‐Term Postural Orthostatic Tachycardia Syndrome Outcomes Survey: Educational, Economic, and Social Impact

The Long‐Term Postural Orthostatic Tachycardia Syndrome Outcomes Survey‐Gynecologic Findings: A Cross‐Sectional Survey in Young Women

Long‐Term POTS Outcomes Survey: Diagnosis, Therapy, and Clinical Outcomes

MELAS: Phenotype Classification into Classic-versus-Atypical Presentations

The pursuit of precision mitochondrial medicine: Harnessing preclinical cellular and animal models to optimize mitochondrial disease therapeutic discovery

The Perirolandic Sign: A Unique Imaging Finding Observed in Association with Polymerase γ-Related Disorders

Safety and efficacy of omaveloxolone in patients with mitochondrial myopathy

Collaborators (16)

Christina Lam

Yasemin Sancak

Rebecca Ganetzky

Matthew Young

Ralph J. DeBerardinis

Julien Baruteau

James Peterson

Bobby Ng

Yi Xing

Quan Chen

Lan Lin

Helene Puccio

Ana Victoria Lechuga-Vieco

Andrew Edmondson

Rubén Quintana-Cabrera

Ingo Helbig

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