Author

Gary A. Bellus

Geisinger Health SystemORCID 0000-0001-7492-3324Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Assay:whole-exome sequencing· 2 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Afif Ben‐MahmoudiD· 1 shared Alain VerloèsiD· 1 shared Amit SinghiD· 1 shared Anita M. RauchiD· 1 shared Anne E. JusticeiD· 1 shared Anne M. ComiiD· 1 shared Annette E. BleyiD· 1 shared Anuradha Venkatakrishnan ChimataiD· 1 shared

Activity by Year

2024-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 29 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Afif Ben‐MahmoudORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintMar 31, 2025

De novo variants in KDM2A cause a syndromic neurodevelopmental disorder

Eric Nathaniel Anderson, Stephan Drukewitz, Sukhleen Kour…·Konrad Platzer

This study identifies de novo KDM2A variants as a cause of a syndromic neurodevelopmental disorder with specific clinical features and functional consequences.

2 citations

humanwhole-exome sequencing

𝕏 PostBluesky

Genetic & Genomic MedicineHuman Genetics and Genomics AdvancesPeer-reviewedNov 27, 2024

Phenotypic Findings Associated with Variation in Elastin

Anne E. Justice, Melissa Kelly, Gary A. Bellus…·Marc S. Williams

The paper investigates the phenotypic effects of ELN gene variants using exome data and phenotyping, finding associations with connective tissue disorders beyond known conditions.

1 citation

humanwhole-exome sequencing

𝕏 PostBluesky