Sarah Ruggiero

18PUBLICATIONS
97CO-AUTHORS
NeurogeneticsNeurology and neuromuscular diseasesEpigenetics (incl. genome methylation and epigenomics)Recordkeeping informaticsGene expression (incl. microarray and other genome-wide approaches)
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Publications (18)

|Sep 30, 2026
Functional profiling of STXBP1 missense variants using a novel dual-readout fluorometric assay.

|Jul 14, 2026
A prospective natural history study protocol for clinical trial readiness in synaptic disorders.

|Apr 20, 2026
DNM1-related disorder is characterized by recurrent variants and phenotypic homogeneity.

|Mar 23, 2026
Characterizing SCN1A-Related Disorders Using Real-World Data Across 681 Patient-Years.

Anna J Prentice, Ian McSalley, Jan H Magielski

|Mar 13, 2026
Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification.

Tobias Brünger, Ilona Krey, Suyeon Kim

|Mar 08, 2026
Genetic testing for familial epilepsies: Diagnostic yield and genetic findings.

Colin A Ellis, Juliette Copeland, Isabella Velez

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Frequent Collaborators

17 joint publications

Ingo Helbig

12 joint publications

Jillian L McKee

6 joint publications

Michael C Kaufman

6 joint publications

Jan Magielski