Author

Susan Howell

Children's Hospital ColoradoORCID 0000-0001-7115-2165Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Organism:human· 2 Research Focus:database / resource· 1

Frequent Co-Authors

Nicole R. TartagliaiD· 2 shared Shanlee DavisiD· 2 shared Alan David RogoliD· 1 shared Alexandra CarliD· 1 shared Amanda Alston· 1 shared Anna DawczykiD· 1 shared Armin RaznahaniD· 1 shared David S. HongiD· 1 shared

Activity by Year

2022-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 33 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Nicole R. TartagliaORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintAug 14, 2024

Generating Advancements in Longitudinal Analysis in X and Y Variations: Rationale, Design, and Methods for the GALAXY Registry

Alexandra Carl, Samantha Bothwell, Karli S. Swenson…·Shanlee Davis

The paper introduces the GALAXY Registry, a longitudinal study aimed at improving diagnosis and understanding of sex chromosome aneuploidies through increased demographic diversity.

DOI 10.1101/2024.08.14.24311888

humandatabase / resource

𝕏 PostBluesky

Genetic & Genomic MedicineJournal of Genetic CounselingPeer-reviewedOct 6, 2022

Non-Invasive Prenatal Testing (NIPT) Results for Participants of the eXtraordinarY Babies Study: Screening, Counseling, Diagnosis, and Discordance

Susan Howell, Shanlee Davis, Talia Thompson…·Nicole R. Tartaglia

This study examines the timing of diagnostic testing after positive NIPT in infants with SCAs and identifies factors influencing deferral decisions and discordant results.

11 citations

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