Author

Alexis R. Heidlebaugh

Geisinger Medical CenterORCID 0000-0003-3354-1746Unclaimed 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 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1 Organism:mouse· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Konrad PlatzeriD· 2 shared Aarno V. PalotieiD· 1 shared Alejandro D. IglesiasiD· 1 shared Alexander T. DengiD· 1 shared Alfred L. GeorgeiD· 1 shared Alina IvaniukiD· 1 shared Alina KurolapiD· 1 shared Amanda GerardiD· 1 shared

Activity by Year

2023-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 27 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Konrad PlatzerORCID

Mutual co-authors in cluster

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintMar 6, 2026

Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification

Tobias Brünger, Ilona Krey, Suyeon Kim…·Dennis Lal

The paper introduces Gene Portals, a framework that integrates clinical, functional, and structural data for rare disease variant classification, demonstrating its utility across five gene-specific portals.

DOI 10.64898/2026.03.05.26347086

humanstatistical model

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Genetic & Genomic MedicinemedRxivPreprintMar 1, 2023

Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease

Daniel G. Calame, Tianyu Guo, Chen Wang…·James R. Lupski

The paper identifies monoallelic DHX9 variants as a cause of neurodevelopmental disorders and Charcot-Marie-Tooth disease, showing genotype-phenotype correlations and cellular dysfunction.

DOI 10.1101/2023.03.01.23286475

humanmouse

𝕏 PostBluesky