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Dong Li

University of Pennsylvania

United States

Research Interests

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Professors in United States Professors in Microbiology Microbiology professors in United States

Articles (12)

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2025

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2025

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2025

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2024

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2023

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2023

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2023

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2023

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2023

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2023

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2023

Collaborators (11)

Naiara Akizu

Associate Professor with Tenure

Children's Hospital of Philadelphia

UNITED STATES

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Joy Cogan

Research Professor

Vanderbilt University School of Medicine

UNITED STATES

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Michael Levine

Director, Center for Bone Health

Children's Hospital of Philadelphia

UNITED STATES

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Christopher T. Gordon

FRANCE

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Francesco Tomassoni Ardori

Staff Scientist

National Cancer Institute

UNITED STATES

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Manuela Morleo

Assistant Professor

University of Campania “Luigi Vanvitelli”

ITALY

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Hakon Hakonarson

Professor and Director

Children's Hospital of Philadelphia

UNITED STATES

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Véronique Pingault

Imagine Institute for Genetic Diseases

FRANCE

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Priyanka Ahimaz

UNITED STATES

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Garry Cutting

Professor

Johns Hopkins University

UNITED STATES

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Cheryl Shoubridge

University of Adelaide

AUSTRALIA

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Dong Li

Research Interests

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Articles (12)

Modeling the long-range effect of an inversion downstream of EFNB1 concludes a 43-year molecular diagnostic odyssey for craniofrontonasal syndrome

Spliceosome complex and neurodevelopmental disorders

Quantitative hypermorphic FAM111A alleles cause autosomal recessive Kenny-Caffey syndrome type 2 and osteocraniostenosis

Recurrent small variants in NESP55/NESPAS associated with broad GNAS methylation defects and pseudohypoparathyroidism type 1B

Expanding the Spectrum of Congenital Myopathy Linked to Variants in the MYBPC1 Gene

Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.

Genomic profiling informs diagnoses and treatment in vascular anomalies

Genomic sequencing in a cohort of individuals with fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO) syndrome

A novel SYNJ1 homozygous variant causing developmental and epileptic encephalopathy in an Afro‐Caribbean individual

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Genome sequencing as a single comprehensive test in molecular diagnosis

Collaborators (11)

Naiara Akizu

Joy Cogan

Michael Levine

Christopher T. Gordon

Francesco Tomassoni Ardori

Manuela Morleo

Hakon Hakonarson

Véronique Pingault

Priyanka Ahimaz

Garry Cutting

Cheryl Shoubridge

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