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Sarah Ruggiero

16PUBLICATIONS
79CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)Recordkeeping informaticsGene expression (incl. microarray and other genome-wide approaches)Neurology and neuromuscular diseasesChild language acquisition
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Journal

Publications (16)

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

|Mar 23, 2026
Characterizing <i>SCN1A</i>-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

|Nov 24, 2025
Reliability and Stability of Cerebral Palsy Classification Scales for Individuals with <i>STXBP1</i> Related Disorders and <i>SYNGAP1</i> Related Disorders.

Samuel R Pierce, Julie M Orlando, Kristin G Cunningham

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Frequent Collaborators

15 joint publications

Ingo Helbig

10 joint publications

Jillian L McKee

5 joint publications

Julie Xian

5 joint publications

Michael C Kaufman

5 joint publications

Jan Magielski

4 joint publications

Alexander K Gonzalez

3 joint publications

Ian McSalley

3 joint publications

Peter D Galer

3 joint publications

Katie Rose Sullivan

2 joint publications

Shiva Ganesan

Frequent Collaborators

15 joint publications

Ingo Helbig

10 joint publications

Jillian L McKee

5 joint publications

Julie Xian

5 joint publications

Michael C Kaufman

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