Author

Megan H. Hawley

Invitae (United States)ORCID 0000-0001-7459-6263Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:variant calling· 2 Assay:whole-exome sequencing· 2 Research Focus:benchmarking· 1 Research Focus:database / resource· 1 Research Focus:differential expression· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Changrui XiaoiD· 2 shared Ivan De DiosiD· 2 shared Light Auriga· 2 shared Miguel AlmalveziD· 2 shared Seth BergeriD· 2 shared Vincent A. FusaroiD· 2 shared Amy Ginsburg· 1 shared Andrea J. CoheniD· 1 shared

Activity by Year

2021-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 29 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Changrui XiaoORCID

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3 papers

Recent·Most cited

Genetic & Genomic MedicineGenetics in MedicinePeer-reviewedSep 6, 2025

Genome sequencing reveals the impact of pseudoexons in rare genetic disease

Georgia Pitsava, Megan H. Hawley, Light Auriga…·Eric J. N. Vilain

Genome sequencing identifies pseudoexons as a common cause of Mendelian disease, with some variants missed by prior exome testing.

11 citationstop 2%

humanwhole-genome sequencing

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GeneticsGenetics in MedicinePeer-reviewedJun 26, 2024

Considerations for reporting variants in novel candidate genes identified during clinical genomic testing

Jessica X. Chong, Seth Berger, Samantha M. Baxter…·Tanner D. Jensen

The paper develops criteria for identifying, sharing, and reporting novel candidate genes in clinical genomic testing to improve diagnostic yield for Mendelian conditions.

16 citationstop 5%

whole-exome sequencingvariant calling

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Genetic & Genomic MedicineGenetics in MedicinePeer-reviewedJan 26, 2021

The genetic architecture of left ventricular non-compaction reveals both substantial overlap with other cardiomyopathies and a distinct aetiology in a subset of cases

Francesco Mazzarotto, Megan H. Hawley, Matteo Beltrami…·Roddy Walsh

This study identifies genetic overlaps and distinct variant classes in LVNC compared to DCM and HCM, revealing both shared and unique genetic mechanisms.

85 citationstop 1%

humanwhole-exome sequencing

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