Author

Colin A. Ellis

Children's Hospital of PhiladelphiaORCID 0000-0003-2152-8106Unclaimed 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:differential expression· 1 Assay:electronic health records· 1 Research Focus:gene regulatory network inference· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Christian M. BoßelmanniD· 2 shared Ingo HelbigiD· 2 shared Sarah McKeown RuggieroiD· 2 shared Shiva GanesaniD· 2 shared Abiola Harrison· 1 shared Ahmad A. BeydouniD· 1 shared Alexander K. GonzaleziD· 1 shared Alica M. GoldmaniD· 1 shared

Activity by Year

2024-2025 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 23 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Christian M. BoßelmannORCID

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3 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintFeb 10, 2025

Variants in BSN, encoding the presynaptic protein Bassoon, result in a novel neurodevelopmental disorder with a broad phenotypic range

Stacy G. Guzman, Sarah McKeown Ruggiero, Shiva Ganesan…·Ingo Helbig

The paper identifies BSN variants as a cause of a new neurodevelopmental disorder with a broad phenotypic range, using clinical data and computational phenotyping.

DOI 10.1101/2025.02.10.25321755

humanstatistical model

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Genetic & Genomic MedicineNature NeurosciencePeer-reviewedOct 1, 2024

Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes

Epi25 Collaborative, Siwei Chen, Bassel W Abou-Khalil…·Alica M. Goldman

This study identifies shared and distinct ultra-rare genetic risk factors for epilepsy subtypes using whole-exome sequencing of 20,979 patients and 33,444 controls.

72 citationstop 1%

humanwhole-exome sequencing

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Genetic & Genomic MedicineGenetics in MedicinePeer-reviewedJul 14, 2024

Clinical signatures of genetic epilepsy precede diagnosis in electronic medical records of 32,000 individuals

Peter D. Galer, Shridhar Parthasarathy, Julie Xian…·Ingo Helbig

This study identifies clinical features preceding genetic epilepsy diagnosis in EMR data from 32,000 individuals, showing early signs can inform earlier treatment.

10 citations

humanelectronic health records

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