Author

Nicole Kelly

Albert Einstein College of MedicineORCID 0000-0003-4476-5462Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 3 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 4 Approach:statistical model· 4 Research Focus:benchmarking· 2 Assay:whole-genome sequencing· 2 Research Focus:database / resource· 1 Approach:experimental assay· 1 Assay:GWAS summary statistics· 1 Organism:mouse· 1

Frequent Co-Authors

Eimear E. KennyiD· 4 shared Bruce D. GelbiD· 3 shared Carol R. HorowitziD· 3 shared George A. DíaziD· 3 shared Jessica RodrigueziD· 3 shared John M. GreallyiD· 3 shared Katherine E. BoniniiD· 3 shared Katie M. GallagheriD· 3 shared

Activity by Year

2021-2023 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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4 shared papersGenetic & Genomic Medicine

Eimear E. KennyORCID

Mutual co-authors in cluster

Author profile →

4 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintJul 5, 2023

The NYCKidSeq randomized controlled trial: Impact of GUIA digitally enhanced genetic counseling in racially and ethnically diverse families

Sabrina A. Suckiel, Nicole Kelly, Jacqueline A. Odgis…·Eimear E. Kenny

The paper evaluates the impact of GUIA, a digital genetic counseling tool, on understanding of genetic test results in diverse families, finding improved understanding in the intervention group.

DOI 10.1101/2023.07.05.23292193

humanstatistical model

𝕏 PostBluesky

GeneticsGenetics in MedicinePeer-reviewedMay 6, 2023

Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testing

Stephanie A. Felker, James M.J. Lawlor, Susan M. Hiatt…·Gregory M. Cooper

The paper identifies clinically relevant variants in poison exons (PEs) that improve diagnostic yield for neurodevelopmental disorders by uncovering variants previously overlooked in standard analyses.

19 citations

mousehuman

𝕏 PostBluesky

Genetic & Genomic MedicineGenetics in MedicinePeer-reviewedFeb 2, 2021

GUIA: a digital platform to facilitate result disclosure in genetic counseling

Sabrina A. Suckiel, Jaqueline A. Odgis, Katie M. Gallagher…·Eimear E. Kenny

GUIA is a web-based platform designed to improve the delivery of genomic results to patients and families, showing positive feedback from pilot users.

28 citations

humanGWAS summary statistics

𝕏 PostBluesky

Genetic & Genomic MedicineTrialsPeer-reviewedJan 14, 2021

The NYCKidSeq project: study protocol for a randomized controlled trial incorporating genomics into the clinical care of diverse New York City children

Jacqueline A. Odgis, Katie M. Gallagher, Sabrina A. Suckiel…·Eimear E. Kenny

The NYCKidSeq project evaluates the clinical utility and communication of genomic testing in diverse children through a randomized controlled trial.

32 citationstop 5%

humanwhole-genome sequencing

𝕏 PostBluesky