Andrew C Edmondson

7PUBLICATIONS
46CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Gene and molecular therapyEpigenetics (incl. genome methylation and epigenomics)Cancer geneticsMedical biochemistry - carbohydrates
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Publications (7)

|Apr 15, 2026
Targeted long-read RNA sequencing for rare disease diagnosis and variant interpretation.

|Jun 12, 2025
Novel mouse model reveals neurodevelopmental origin of PMM2-CDG brain pathology.

Andrew C Edmondson, Rohit Budhraja, Zijie Xia

|Apr 14, 2025
Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2-CDG.

Sander Pajusalu, Mari-Anne Vals, Mercedes Serrano

|Jan 18, 2023
Fractionated plasma N-glycan profiling of novel cohort of ATP6AP1-CDG subjects identifies phenotypic association.

Hana Alharbi, Earnest James Paul Daniel, Jenny Thies

|Jun 18, 2022
ALG8-CDG: Molecular and phenotypic expansion suggests clinical management guidelines.

Daniah Albokhari, Bobby G Ng, Alis Guberinic

|Sep 29, 2021
Manifestations and Management of Hepatic Dysfunction in Congenital Disorders of Glycosylation.

Christin Johnsen, Andrew C Edmondson

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Frequent Collaborators

2 joint publications

Hudson H Freeze

2 joint publications

Eva Morava

2 joint publications

Christina T Lam

1 joint publications

Christin Johnsen