Kathryn P Burdon

28PUBLICATIONS
175CO-AUTHORS
Medical molecular engineering of nucleic acids and proteinsGene mappingVision scienceNeurology and neuromuscular diseasesGene expression (incl. microarray and other genome-wide approaches)
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Publications (28)

|Aug 20, 2026
ClinGen Glaucoma Variant Curation Expert Panel recommendations enhance classification of myocilin variants.

|Apr 14, 2025
Multiple Sclerosis Polygenic Risk Is Not Enriched in Three Multicase Families in Comparison to Population-Based Cases.

Ming Chen, Allan Motyer, Bruce V Taylor

|Oct 22, 2024
Uncovering genetic loci and biological pathways associated with age-related cataracts through GWAS meta-analysis.

Santiago Diaz-Torres, Samantha Sze-Yee Lee, Luis M García-Marín

|Nov 08, 2022
Novel plasma and brain proteins that are implicated in multiple sclerosis.

Xin Lin, Yuanhao Yang, Melissa Gresle

|Oct 11, 2022
Specifications of the ACMG/AMP variant curation guidelines for myocilin: Recommendations from the clingen glaucoma expert panel.

Kathryn P Burdon, Patricia Graham, Johanna Hadler

|Aug 19, 2022
Diagnostic yield of candidate genes in an Australian corneal dystrophy cohort.

Emmanuelle Souzeau, Owen M Siggs, Sean Mullany

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Frequent Collaborators

8 joint publications

Alex W Hewitt

7 joint publications

Puya Gharahkhani

7 joint publications

Stuart MacGregor

7 joint publications

Emmanuelle Souzeau