Author

Stephanie M. Ware

Indiana University School of MedicineORCID 0000-0003-4714-0142Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Research Focus:differential expression· 2 Approach:statistical model· 2 Assay:bulk RNA-seq· 1 Research Focus:database / resource· 1 Assay:DNA methylation· 1 Approach:experimental assay· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Adeline Vanderver· 1 shared Alan H. BeggsiD· 1 shared Alexander J.M. DingemansiD· 1 shared Alexander P.A. StegmanniD· 1 shared Alexis Ferrasse· 1 shared Allyn McConkie-Rosell· 1 shared Alyssa A. Tran· 1 shared Amaia Lasa‐AranzastiiD· 1 shared

Activity by Year

2022-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 24 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Adeline Vanderver

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3 papers

Recent·Most cited

Genetic & Genomic MedicineGenome biologyPeer-reviewedJun 15, 2026

Ensilication preserves high-molecular weight native DNA for clinical long-read sequencing

Alexis Ferrasse, Rodrigo Mendez, John E. Gorzynski…·Carlos A. Pardo-Villamizar

This paper demonstrates that ensilication preserves DNA integrity at ambient temperature, enabling diagnostic-quality long-read sequencing without cold-chain infrastructure.

1 citation

humanwhole-genome sequencing

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GenomicsbioRxivPreprintSep 30, 2024

Identification of Long Non-coding RNA Candidate Disease Genes Associated with Clinically Reported CNVs in Congenital Heart Disease

Jacqueline S. Penaloza, Blythe Moreland, Jeff Gaither…·Peter White

This study identifies lncRNA candidate genes associated with CNVs in CHD patients, revealing their significant role in heart development and disease.

DOI 10.1101/2024.09.30.615967

humanbulk RNA-seq

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Genetic & Genomic MedicineGenetics in MedicinePeer-reviewedJul 14, 2022

Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein

Elke de Boer, Charlotte W. Ockeloen, Rosalie A. Kampen…·Tjitske Kleefstra

This study identifies ANKRD11 missense variants as a cause of KBG syndrome by impairing protein stability or transcriptional activity, supporting haploinsufficiency as the underlying mechanism.

28 citations

humanstatistical model

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