Author

Kim Marie Thalwitzer

Children's Hospital of PhiladelphiaORCID 0000-0002-6647-5864Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 3

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Research Focus:benchmarking· 1 Research Focus:cell type annotation· 1 Assay:electronic health records· 1 Research Focus:gene regulatory network inference· 1

Frequent Co-Authors

Ingo HelbigiD· 3 shared Sarah McKeown RuggieroiD· 3 shared Charlene Son RigbyiD· 2 shared James R. GossiD· 2 shared Jillian L. McKeeiD· 2 shared Julie XianiD· 2 shared Katie Rose SullivaniD· 2 shared Abiola Harrison· 1 shared

Activity by Year

2023-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 33 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Ingo HelbigORCID

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3 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintApr 6, 2026

DNM1-related disorder is characterized by recurrent variants and phenotypic homogeneity

Abiola Harrison, Shiva Ganesan, Hongbo Michael Xie…·Ingo Helbig

The paper analyzes a large DNM1 cohort to identify mutational hotspots and genotype-phenotype correlations in DNM1-related disorder.

DOI 10.64898/2026.04.05.26350183

humanstatistical model

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Genetic & Genomic MedicineBrainPeer-reviewedNov 28, 2023

Delineating clinical and developmental outcomes in STXBP1-related disorders

Julie Xian, Kim Marie Thalwitzer, Jillian L. McKee…·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.

47 citationstop 1%

humanelectronic health records

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Genetic & Genomic MedicineEpilepsia OpenPeer-reviewedJan 10, 2023

A disease concept model for STXBP1-related disorders

Katie Rose Sullivan, Sarah McKeown Ruggiero, Julie Xian…·Ingo Helbig

This paper develops a disease concept model for STXBP1-related disorders by analyzing qualitative interviews to map symptoms and their impacts across clinical domains and age groups.

32 citationstop 3%

humanstatistical model

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