Author

Amber Waddell

University of North Carolina at Chapel HillORCID 0009-0007-0138-2054Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Andrew Paul LandstromiD· 1 shared ANJALI TIKU OWENSiD· 1 shared Babken AsatryaniD· 1 shared Belinda R. GrayiD· 1 shared Benjamin L. ParkeriD· 1 shared Bert Louis CallewaertiD· 1 shared Bess Wayburn· 1 shared Brittney A. MurrayiD· 1 shared

Activity by Year

2024-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Andrew Paul LandstromORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicineCirculation Genomic and Precision MedicinePeer-reviewedApr 21, 2025

Clinical Validity of Autosomal Dominant ALPK3 Loss-of-function Variants as a Cause of Hypertrophic Cardiomyopathy

Sophie Hespe, Emma S. Singer, Chloe M. Reuter…·Jodie Ingles

The paper evaluates the clinical validity of heterozygous ALPK3 loss-of-function variants as a cause of hypertrophic cardiomyopathy, finding strong gene-disease association with reduced penetrance.

3 citations

humanstatistical model

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Genetic & Genomic MedicineMolecular Genetics and MetabolismPeer-reviewedNov 1, 2024

Assessment of genes involved in lysosomal diseases using the ClinGen Clinical Validity framework

Emily Groopman, Shruthi Mohan, Amber Waddell…·Jennifer Goldstein

The paper assesses the clinical validity of 56 genes associated with lysosomal diseases using the ClinGen framework, identifying key themes and challenges in their evaluation.

1 citation

humanwhole-exome sequencing

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