Author

Rosemary Bauer

Northwestern UniversityORCID 0000-0002-0350-1666Unclaimed 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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Approach:experimental assay· 2 Organism:human· 2 Organism:C. elegans· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Alexandra Valsamakis· 1 shared Allen R. KunselmaniD· 1 shared Alyson Ficca· 1 shared Andres Gabriel Vidal-GadeaiD· 1 shared Andy GoldeniD· 1 shared Ashka Shah· 1 shared Chance BainbridgeiD· 1 shared Chloe ParkeriD· 1 shared

Activity by Year

2021-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 12 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alexandra Valsamakis

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3 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintAug 13, 2025

Pathogenic variation in insulin resistance genes is common in polycystic ovary syndrome (PCOS): a strategy for causal gene discovery using whole-exome sequencing (WES) in complex traits

Rosemary Bauer, Chloe Parker, Zulma Cardona…·Margrit Urbanek

This study identifies pathogenic variants in insulin resistance genes in PCOS patients using whole-exome sequencing, highlighting IR as a central pathway in PCOS.

1 citation

humanwhole-exome sequencing

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Genetic & Genomic MedicineOrphanet Journal of Rare DiseasesPeer-reviewedNov 23, 2024

A Natural History Study of Timothy Syndrome

Katherine W. Timothy, Rosemary Bauer, Kerry A. Larkin…·Andy Golden

This study describes the first natural history of Timothy syndrome, identifying common extra-cardiac features beyond cardiac issues.

17 citationstop 3%

humanexperimental assay

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GeneticsG3 Genes Genomes GeneticsPeer-reviewedDec 15, 2021

Distinct mechanoreceptor pezo-1 isoforms modulate food intake in the nematode Caenorhabditis elegans

Kiley J. Hughes, Ashka Shah, Xiaofei Bai…·Andres Gabriel Vidal-Gadea

This study identifies distinct pezo-1 isoforms in C. elegans with tissue-specific expression and functional roles in food intake regulation.

19 citations

C. elegansexperimental assay

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