Lynne Wolfe

12PUBLICATIONS
148CO-AUTHORS
Metabolic medicineMedical biochemistry - proteins and peptides (incl. medical proteomics)Gene mappingEpigenetics (incl. genome methylation and epigenomics)Neurology and neuromuscular diseases
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Publications (12)

|Sep 09, 2026
Comprehensive functional testing in fibroblasts has strong utility to diagnose mitochondrial disease.

|Jun 29, 2026
The clinical utility of functional testing in fibroblasts to diagnose primary mitochondrial disease.

|Apr 20, 2026
De Novo Variants Associated With Autosomal Recessive Conditions: Case Series and Implications for Genetic Testing and Counseling.

|Mar 25, 2026
Clinical and Genetic Characteristics of Free Sialic Acid Storage Disorder.

Zoe Wolfenson, Gabriella Grois, Ruth F Hailemeskel

|Nov 26, 2025
Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.

Sébastien Küry, Janelle E Stanton, Geeske M van Woerden

|Aug 11, 2025
BK channel activity in skin fibroblasts from patients with neurological disorder.

Ria L Dinsdale, Thomas R Middendorf, Deborah Disilvestre

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Frequent Collaborators

5 joint publications

Ellen Macnamara

4 joint publications

William Gahl

3 joint publications

Cynthia J Tifft

3 joint publications

May Christine V Malicdan