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Lishuang Shen

Clinical Staff Scientist, Sr. Bioinformatics Scientist

Children's Hospital of Los Angeles

United States

Research Interests

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Professors in United States

Articles (7)

Year:

2026

Year:

2026

Year:

2025

Year:

2024

Year:

2024

Year:

2023

Year:

2023

Collaborators (6)

Zarazuela Zolkipli-Cunningham

Attending Physician and Clinical Research Director, Mitochondrial Medicine Frontier Program

Children's Hospital of Philadelphia

UNITED STATES

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Clara Vila-Castelar

Assistant Professor

Washington University in St. Louis

UNITED STATES

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Douglas Wallace

Professor

University of Pennsylvania

UNITED STATES

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Marni Falk

Assistant Professor

University of Pennsylvania

UNITED STATES

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Diego Sepulveda‐Falla

GERMANY

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Amanda Clause

Washington University in St. Louis

UNITED STATES

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Lishuang Shen

Research Interests

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Articles (7)

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

Generative AI Accelerates Genotype–Phenotype Characterization of a 1600-Case Leigh Syndrome Virtual Cohort from Published Literature

The Path to Precision Medicine in Leigh Syndrome Spectrum: A Four-Decade Chronicle of Genetic Discovery and Targeted Treatment

Significance Associated with Phenotype Score Aids in Variant Prioritization for Exome Sequencing Analysis

MSeqDR Quick‐Mitome (QM): Combining Phenotype‐Guided Variant Interpretation and Machine Learning Classifiers to Aid Primary Mitochondrial Disease Genetic Diagnosis

Resilience to autosomal dominant Alzheimer's disease in a Reelin-COLBOS heterozygous man

Expert Panel Curation of 113 Primary Mitochondrial Disease Genes for the Leigh Syndrome Spectrum.

Collaborators (6)

Zarazuela Zolkipli-Cunningham

Clara Vila-Castelar

Douglas Wallace

Marni Falk

Diego Sepulveda‐Falla

Amanda Clause

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