Author

L Hovey

University of IowaORCID 0000-0002-3945-2309Unclaimed 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· 3 Approach:statistical model· 3 Research Focus:variant calling· 2 Assay:DNA methylation· 1 Research Focus:gene regulatory network inference· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Aline Lourenço PetriniD· 2 shared Ligiane Alves Machado‐PaulaiD· 2 shared Lina M. Moreno UribeiD· 2 shared Waheed A. AwotoyeiD· 2 shared Amama Ghaffar· 1 shared Ashley Hinkle· 1 shared Azeez ButaliiD· 1 shared B Doolittle· 1 shared

Activity by Year

2020-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 25 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Aline Lourenço PetrinORCID

Mutual co-authors in cluster

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3 papers

Recent·Most cited

Genetic & Genomic MedicineMolecular Genetics and GenomicsPeer-reviewedJun 23, 2026

Methylation quantitative loci analysis in nonsyndromic orofacial clefts

Aline Lourenço Petrin, Ligiane Alves Machado‐Paula, Julia Romanowska…·Lina M. Moreno Uribe

The paper identifies methylation quantitative loci (meQTLs) associated with nonsyndromic orofacial clefts, linking genetic variants to epigenetic changes that may explain missing heritability.

DOI 10.1007/s00438-026-02474-4

humanDNA methylation

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Genetic & Genomic MedicinemedRxivPreprintFeb 7, 2024

Whole genome sequencing of a family with autosomal dominant features within the oculoauriculovertebral spectrum

Aline Lourenço Petrin, Ligiane Alves Machado‐Paula, Ashley Hinkle…·Lina M. Moreno Uribe

The paper identifies rare mutations in SIX1, PDGFRA, and KDR/VEGFR2 associated with OAVS phenotypes through whole genome sequencing and statistical analysis of a family.

DOI 10.1101/2024.02.07.24301824

humanwhole-genome sequencing

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GeneticsHuman GeneticsPeer-reviewedJun 19, 2020

Novel Loss-of-Function Mutations in COCH Cause Autosomal Recessive Nonsyndromic Deafness

Kevin T. A. Booth, Amama Ghaffar, Muhammad Rashid…·Saima Riazuddin

The paper identifies four novel pathogenic variants in COCH causing autosomal recessive nonsyndromic hearing loss and shows non-truncating variants affect RNA-splicing.

21 citations

humanwhole-exome sequencing

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