Author

Christine Killingsworth Rini

Northwestern UniversityORCID 0000-0002-3169-3626Unclaimed 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 Assay:whole-exome sequencing· 2 Research Focus:benchmarking· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Alicia BrandtiD· 1 shared Ann Katherine M. ForemaniD· 1 shared Anne Drapkin LyerlyiD· 1 shared Asha N. TalatiiD· 1 shared Bradford C. PowelliD· 1 shared Bryce A. SeifertiD· 1 shared Chelsea E. Gustafson· 1 shared Cynthia M. PowelliD· 1 shared

Activity by Year

2020-2020 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 29 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alicia BrandtORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicineGenetics in MedicinePeer-reviewedNov 19, 2020

Impact of prenatal exome sequencing for fetal genetic diagnosis on maternal psychological outcomes and decisional conflict in a prospective cohort

Asha N. Talati, Kelly L. Gilmore, Emily Hardisty…·Neeta L. Vora

This study evaluates the psychological impact of prenatal trio exome sequencing on women with anomalous pregnancies, finding increased distress in those who received explanatory results.

31 citationstop 4%

humanwhole-exome sequencing

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Genetic & Genomic MedicineThe American Journal of Human GeneticsPeer-reviewedAug 26, 2020

Genomic sequencing for newborn screening: Results of the NC NEXUS project

Tamara S. Roman, Stephanie B. Crowley, Myra I. Roche…·Jonathan S. Berg

The paper evaluates exome sequencing in newborn screening, finding high diagnostic yield for metabolic disorders but limited actionable results for hearing loss and identifying carrier status variants.

129 citationstop 1%

humanwhole-exome sequencing

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