Author

Elizabeth M. Selner

Observed name: Elizabeth Selner

Institution: Mayo Clinic

Observed institutions: Sparrow Health System, Mayo Clinic, University of Arizona, Sparrow Hospital, Michigan State University

OpenAlex ID: A5090387475

Clinical Heterogeneity of Neuronal Ceroid Lipofuscinosis Type 13

2024 · Nikhil B. Ghayal, Shanu F. Roemer, et al. · Neurology Genetics · 1

P672: Review of clinical and biochemical data for a previously unpublished ATP7B variant

2026 · Kyle Salsbery, Dawn Peck, et al. · Genetics in Medicine Open

P586: A retrospective analysis of mitochondrial genome sequencing data reveals opportunities for improved representation in genomic testing

2026 · Michelle Cox, Samantha Roellinger, et al. · Genetics in Medicine Open

Porphyria diagnostic yield and testing experience: Where biochemical and molecular testing intersect

2024 · Elizabeth Selner, Dawn Peck, et al. · Molecular Genetics and Metabolism

P625: Utility of highest pathogenic variant frequency approach for application of BA1/BS1 ACMG criteria to reduce variants of uncertain significance

2024 · Kyle Salsbery, Devin Oglesbee, et al. · Genetics in Medicine Open

Predicting Prognosis in CPEO With mtDNA Deletions: A Case Demonstrating the Advantages of Measuring Heteroplasmy With Novel Droplet Digital Polymerase Chain Reaction Testing

2022 · Nathan A. Lambert-Cheatham, Sophia T. Tessema, et al. · Journal of Neuro-Ophthalmology

Works count: 6

Citation count: 1

H-index: 1

I10-index: