Author

Eryn Fitch

Children's Hospital of Philadelphia

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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

Signature Assays, Organisms & Methods

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Assay:electronic health records· 3 Organism:human· 3 Research Focus:variant effect prediction· 2 Approach:Bayesian inference· 1 Research Focus:benchmarking· 1 Approach:experimental assay· 1 Approach:statistical model· 1

Frequent Co-Authors

Ingo HelbigiD· 3 shared Alfred L. GeorgeiD· 2 shared Carlos G. VanoyeiD· 2 shared Edward C. CooperiD· 2 shared Julie XianiD· 2 shared Sarah McKeown RuggieroiD· 2 shared Amanda S. LindyiD· 1 shared Andreas BrunklausiD· 1 shared

Activity by Year

2022-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 32 mutual co-author links

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3 shared papersGenetics

Ingo HelbigORCID

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3 papers

Recent·Most cited

Optimizing clinical interpretability of functional evidence in epilepsy-related ion channel variants

Shridhar Parthasarathy, Stacey R. Cohen, Eryn Fitch, Priya Vaidiswaran, Sarah McKeown Ruggiero, Laina G. Lusk, Victoria Chisari, David Lewis‐Smith, Stephan Lauxmann, Christian M. Boßelmann, Christopher H. Thompson, Eric R. Wengert, Ulrike B. S. Hedrich, Shiva Ganesan, Ganna Balagura, , Ingo Helbig

The paper develops a Bayesian framework to integrate functional evidence into clinical variant interpretation for epilepsy-related ion channel genes, identifying key parameters that influence pathogenicity classification.

bioRxiv · May 9, 2024 · PreprintGenetics

Delineating clinical and developmental outcomes in STXBP1-related disorders

Julie Xian, Kim Marie Thalwitzer, Jillian L. McKee, Katie Rose Sullivan, Elise Brimble, Eryn Fitch, Jonathan Toib, Michael C. Kaufman, Danielle deCampo, Kristin G. Cunningham, Samuel R. Pierce, James R. Goss, Charlene Son Rigby, Steffen Syrbe, Michael J. Boland, , Ingo Helbig

This study outlines the longitudinal epilepsy and developmental trajectories in STXBP1-related disorders using clinical and standardized assessments, revealing subgroup differences and informing future therapeutic strategies.

Brain · Nov 28, 2023Peer-reviewedGenetic & Genomic Medicine

High-throughput Evaluation of Epilepsy-associated KCNQ2 Variants Reveals Functional and Pharmacological Heterogeneity

Carlos G. Vanoye, Reshma R. Desai, Zhigang Ji, Sneha Adusumilli, Nirvani P. Jairam, Nora F. Ghabra, Nishtha Joshi, Eryn Fitch, Katherine L. Helbig, Dianalee McKnight, Amanda S. Lindy, Fanggeng Zou, Ingo Helbig, Edward C. Cooper, Alfred L. George

This study evaluates 79 KCNQ2 variants using automated patch clamp recording, revealing functional and pharmacological heterogeneity and genotype-dependent retigabine responses.

JCI Insight · Feb 1, 2022Peer-reviewedNeuroscience