Author

Dennis Dlugos

Children's Hospital of PhiladelphiaORCID 0000-0003-3088-7645Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Assay:whole-exome sequencing· 3 Research Focus:differential expression· 2 Research Focus:variant calling· 2 Research Focus:gene regulatory network inference· 1 Research Focus:GWAS / association mapping· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Caitlin A. BennettiD· 3 shared Chantal DepondtiD· 3 shared Chris J. CotsapasiD· 3 shared Christina CanavatiiD· 3 shared Claire L. ChurchhouseiD· 3 shared Danielle Molinari AndradeiD· 3 shared Felecia E. CerratoiD· 3 shared Felicitas BeckeriD· 3 shared

Activity by Year

2019-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Caitlin A. BennettORCID

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3 papers

Recent·Most cited

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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GenomicsEBioMedicinePeer-reviewedSep 24, 2021

Ultra-rare constrained missense variants in the epilepsies: Shared and specific enrichment patterns in neuronal gene-sets

Mahmoud Koko, Roland Krause, Thomas Sander…·Christian Hengsbach

The paper analyzes ultra-rare variants in epilepsy patients to identify gene-set enrichment patterns and differential impacts in neuronal gene categories.

18 citations

humanwhole-exome sequencing

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GeneticsThe American Journal of Human GeneticsPeer-reviewedJul 18, 2019

Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals

Yen‐Chen Anne Feng, Daniel P. Howrigan, Liam E. Abbott…·Ingo Borggräfe

This study identifies ultra-rare genetic variants associated with different epilepsy types using whole-exome sequencing in 17,634 individuals.

297 citationstop 1%

humanwhole-exome sequencing

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