Sarah Ruggiero

17PUBLICATIONS
92CO-AUTHORS
Neurology and neuromuscular diseasesEpigenetics (incl. genome methylation and epigenomics)Recordkeeping informaticsGene expression (incl. microarray and other genome-wide approaches)Child language acquisition
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Publications (17)

|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

|Feb 12, 2026
A Prospective Natural History Study Protocol for Clinical Trial Readiness in Synaptic Disorders.

Jillian L McKee, Sarah M Ruggiero, Kristin Cunningham

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Frequent Collaborators

16 joint publications

Ingo Helbig

11 joint publications

Jillian L McKee

6 joint publications

Michael C Kaufman

6 joint publications

Jan Magielski