Jamie L Fraser

9PUBLICATIONS
121CO-AUTHORS
NeonatologyGene mappingGene expression (incl. microarray and other genome-wide approaches)Infant and child healthNeurology and neuromuscular diseases
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Publications (9)

|Aug 11, 2026
A novel homozygous variant causing fatal neonatal adenylosuccinate lyase (ADSL) deficiency presenting with respiratory failure and encephalopathy.

|Jun 05, 2026
Normative modeling for quantitative brain MRI phenotyping and biomarker discovery for pediatric leukodystrophies.

|Aug 12, 2024
Glial Origins of Inherited White Matter Disorders.

Anjana Sevagamoorthy, Adeline Vanderver, Jamie L Fraser

|Aug 05, 2024
Fetal Brain MRI Abnormalities in Pyruvate Dehydrogenase Complex Deficiency.

Olivier Fortin, Kelsey Christoffel, Abdullah B Shoaib

|Jul 11, 2024
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.

Yuyang Chen, Ruebena Dawes, Hyung Chul Kim

|Apr 22, 2024
Characteristic Fetal Brain MRI Abnormalities in Pyruvate Dehydrogenase Complex Deficiency.

Olivier Fortin, Kelsey Christoffel, Abdullah Shoaib

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Frequent Collaborators

2 joint publications

Alison G Compton

2 joint publications

Paul J Lockhart

2 joint publications

Christina L Grant

2 joint publications

Kerith-Rae Dias