Author

Carla A. Rich

University of LouisvilleORCID 0000-0001-6817-3555Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:variant calling· 2 Research Focus:variant effect prediction· 2 Assay:whole-exome sequencing· 2 Assay:whole-genome sequencing· 2

Frequent Co-Authors

Candice R. FinnilaiD· 2 shared David E. Gray· 2 shared Edward J. Lose· 2 shared Elizabeth Martina BebiniD· 2 shared Gregory M. CooperiD· 2 shared Gregory S. BarshiD· 2 shared Kelly M. EastiD· 2 shared Kevin M. BowlingiD· 2 shared

Activity by Year

2017-2018 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenomics

Candice R. FinnilaORCID

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2 papers

Recent·Most cited

GenomicsGenetics in MedicinePeer-reviewedApr 12, 2018

Genomic sequencing identifies secondary findings in a cohort of parent study participants

Michelle L. Thompson, Candice R. Finnila, Kevin M. Bowling…·Gregory M. Cooper

The paper reports secondary findings in parents of children with developmental delay through genomic sequencing, identifying clinically relevant variants in 9% of participants.

36 citations

humanwhole-exome sequencing

𝕏 PostBluesky

GenomicsGenome MedicinePeer-reviewedMay 17, 2017

Genomic diagnosis for children with intellectual disability and/or developmental delay

Kevin M. Bowling, Michelle L. Thompson, Michelle D. Amaral…·Gregory M. Cooper

This study analyzes genomic data from 371 children with intellectual disability or developmental delay to identify pathogenic variants and assess diagnostic utility.

273 citationstop 1%

humanwhole-exome sequencing

𝕏 PostBluesky