Author

Mary Elizabeth Mathyer

Washington University in St. LouisORCID 0000-0003-4725-7439Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Developmental Biology· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 2 Approach:experimental assay· 2 Organism:human· 2 Organism:mouse· 2 Research Focus:cell type annotation· 1 Assay:DNA methylation· 1 Research Focus:gene regulatory network inference· 1 Research Focus:GWAS / association mapping· 1

Frequent Co-Authors

Alina D. SchmidtiD· 2 shared Cristina de Guzman StrongiD· 2 shared A. Quiggle· 1 shared Ali J. MarianiD· 1 shared Antonietta FrancoiD· 1 shared Avner ShemeriD· 1 shared Daniel P. KellyiD· 1 shared Emma Guttman‐YasskyiD· 1 shared

Activity by Year

2019-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 30 mutual co-author links

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2 shared papersDevelopmental Biology

Alina D. SchmidtORCID

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2 papers

Recent·Most cited

Developmental BiologyeLifePeer-reviewedSep 27, 2023

A human mitofusin 2 mutation causes mitophagic cardiomyopathy

Antonietta Franco, Jiajia Li, Daniel P. Kelly…·Gerald W. Dorn

The paper identifies a mitofusin 2 mutation (R400Q) that causes mitophagic cardiomyopathy by impairing mitochondrial fusion and Parkin recruitment, distinct from its role in CMT2A.

31 citations

humanmouse

𝕏 PostBluesky

GeneticsbioRxivPreprintNov 5, 2019

An enhancer:involucrin regulatory module impacts human skin barrier adaptation out-of-Africa and modifies atopic dermatitis risk

Mary Elizabeth Mathyer, Erin A. Brettmann, Alina D. Schmidt…·Cristina de Guzman Strong

The paper identifies an enhancer-IVL regulatory module that evolved in humans and is associated with skin barrier adaptation and atopic dermatitis risk.

1 citation

humanmouse

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