Author

Brenda M. Finucane

Autism & Developmental Medicine InstituteORCID 0000-0003-4841-669XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Andrés Moreno-De-LucaiD· 1 shared Christa Lese MartiniD· 1 shared David H. LedbetteriD· 1 shared Hermela ShimelisiD· 1 shared Juliann M. SavattiD· 1 shared Matthew T. OetjensiD· 1 shared Natasha T. StrandeiD· 1 shared Scott M. MyersiD· 1 shared

Activity by Year

2022-2022 · peak 1/yr

Co-Author Collaboration Network

8 top collaborators · 28 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Andrés Moreno-De-LucaORCID

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1 paper

Recent·Most cited

Frequency of FLCN Loss of Function Variants and Birt-Hogg-Dube-Associated Phenotypes in a Healthcare System Population

Juliann M. Savatt, Hermela Shimelis, Andrés Moreno-De-Luca, Natasha T. Strande, Matthew T. Oetjens, David H. Ledbetter, Christa Lese Martin, Scott M. Myers, Brenda M. Finucane

The paper estimates the prevalence of FLCN pathogenic variants and BHD-related phenotypes in a healthcare population, finding a higher frequency than previously reported and underdiagnosis of BHD.

Genetics in Medicine · May 31, 2022Peer-reviewedGenetic & Genomic Medicine