Author

Ian McSalley

Children's Hospital of PhiladelphiaORCID 0009-0007-9131-4847Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Genetics· 1 Neuroscience· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 3 Assay:electronic health records· 3 Organism:human· 3 Approach:statistical model· 3 Research Focus:gene regulatory network inference· 2 Research Focus:cell type annotation· 1 Research Focus:drug response / drug discovery· 1 Approach:experimental assay· 1

Frequent Co-Authors

Ingo HelbigiD· 4 shared Jillian L. McKeeiD· 4 shared Sarah McKeown RuggieroiD· 3 shared Anna Jenne PrenticeiD· 2 shared Jan H. MagielskiiD· 2 shared Peter D. GaleriD· 2 shared Shiva GanesaniD· 2 shared Shridhar ParthasarathyiD· 2 shared

Activity by Year

2024-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 37 mutual co-author links

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4 shared papersGenetic & Genomic Medicine

Ingo HelbigORCID

Mutual co-authors in cluster

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4 papers

Recent·Most cited

NeuroscienceMolecular PsychiatryPeer-reviewedJul 14, 2026

Translatable electrophysiological and behavioral abnormalities in a humanized model of SYNGAP1-disorder

Alex J. Félix, Brandon L. Brown, Nicolas Marotta…·Benjamin L. Prosser

The paper develops humanized mouse models for SYNGAP1 and STXBP1 disorders, showing similar electrophysiological and behavioral abnormalities in mice and patients, and demonstrates the efficacy of antisense oligonucleotides in modulating SYNGAP1 expression.

DOI 10.1038/s41380-026-03698-x

mouseelectronic health records

𝕏 PostBluesky

Genetic & Genomic MedicinemedRxivPreprintMar 2, 2026

Characterizing SCN1A-Related Disorders Using Real-World Data Across 681 Patient-Years

Anna Jenne Prentice, Ian McSalley, Jan H. Magielski…·Ingo Helbig

This study characterizes SCN1A-related disorders using real-world data from 100 individuals over 681 patient-years, detailing seizure patterns, comorbidities, and treatment changes.

DOI 10.64898/2026.02.24.26346493

humanelectronic health records

𝕏 PostBluesky

GeneticsbioRxivPreprintMar 11, 2025

Phenotypic analysis of 11,125 trio exomes in neurodevelopmental disorders

Shiva Ganesan, Sarah McKeown Ruggiero, Shridhar Parthasarathy…·Ingo Helbig

The paper analyzes 11,125 trio exomes to explore the relationship between genetic variants and phenotypic features in neurodevelopmental disorders, finding significant clinical similarities and phenotypic gradients.

2 citations

humanwhole-exome sequencing

𝕏 PostBluesky

Genetic & Genomic MedicinemedRxivPreprintApr 23, 2024

The clinical and genetic spectrum of paediatric speech and language disorders in 52,143 individuals

Jan H. Magielski, Sarah McKeown Ruggiero, Julie Xian…·Ingo Helbig

This study analyzes 52,143 individuals to characterize paediatric speech and language disorders, identifying genetic associations and clinical patterns.

4 citations

humanelectronic health records

𝕏 PostBluesky