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Jamie Fraser

Associate Professor of Pediatrics

University of Virginia

United States

Research Interests

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Articles (16)

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2026

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2023

Collaborators (13)

Matthew Whitehead

Associate Professor

George Washington University

UNITED STATES

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Ludger Schöls

Section head

Eberhard Karls Universität Tübingen

GERMANY

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Tadahiro Mitani

Jichi Medical University

JAPAN

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Eric Mallack

Kennedy Krieger Institute

UNITED STATES

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Anne Goriely

University of Oxford

UNITED KINGDOM

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Jenny Lord

University of Southampton

UNITED KINGDOM

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Samar Aoun

University of Western Australia

AUSTRALIA

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Ruebena Dawes

University of Oxford

UNITED KINGDOM

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Jonathan LoTempio

Assistant Professor

University of California, Irvine

UNITED STATES

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Jessica Chong

University of Washington

UNITED STATES

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Anjana Sevagamoorthy

Staff Scientist

Children's Hospital of Philadelphia

UNITED STATES

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Stephan Sanders

Professor of Paediatric Neurogenetics

University of Oxford

UNITED KINGDOM

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Louisa Pyle

Assistant Professor

Nationwide Children's Hospital

UNITED STATES

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Jamie Fraser

Research Interests

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Articles (16)

A novel homozygous variant causing fatal neonatal adenylosuccinate lyase (ADSL) deficiency presenting with respiratory failure and encephalopathy

Glial Origins of Inherited White Matter Disorders

De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome

Advance Care Planning for Children With Rare Diseases

Considerations for reporting variants in novel candidate genes identified during clinical genomic testing

Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States

Developmental delay can precede neurologic regression in early onset metachromatic leukodystrophy

Longitudinal natural history studies based on real-world data in rare diseases: Opportunity and a novel approach

Leukoencephalopathy With Calcifications and Cysts

Fetal Brain MRI Abnormalities in Pyruvate Dehydrogenase Complex Deficiency

Advancing fetal diagnosis and prognostication using comprehensive prenatal phenotyping and genetic testing

IFN-signaling gene expression as a diagnostic biomarker for monogenic interferonopathies

Using MRI derived observed to expected total lung volume to predict lethality in fetal skeletal dysplasia

Hippocampal rotation is associated with ventricular atrial size

Correction to: Hippocampal rotation is associated with ventricular atrial size (Pediatric Radiology, (2023), 53, 9, (1941-1950), 10.1007/s00247-023-05687-6)

Increased diagnostic yield from negative whole genome-slice panels using automated reanalysis

Collaborators (13)

Matthew Whitehead

Ludger Schöls

Tadahiro Mitani

Eric Mallack

Anne Goriely

Jenny Lord

Samar Aoun

Ruebena Dawes

Jonathan LoTempio

Jessica Chong

Anjana Sevagamoorthy

Stephan Sanders

Louisa Pyle

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