Concepedia

Stephanie B. Crowley

SB

Statistics

Publications

7

Citations

922

H-Index

7

Active since

2018

Affiliations

University of North Carolina at Chapel Hill(Current)

Baylor College of Medicine

RTI International

Memorial Sloan Kettering Cancer Center

Ambry Genetics (United States)

Stephanie B. Crowley is an author at University of North Carolina at Chapel Hill specializing in life sciences, genetics, and medical genetics.

ORCID

Publications per year

2018–2023

7

Publications

7

Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes

Jodie Ingles, Jennifer Goldstein, Courtney Thaxton et al. · Circulation Genomic and Precision Medicine · 2019 · 450 citations · Full text

, , +13

Specifications of the ACMG/AMP variant interpretation guidelines for germline <i>TP53</i> variants

Cristina Fortuño, Kristy Lee, Magali Olivier et al. · Human Mutation · 2020 · 165 citations · Full text

, , +17

Genomic Sequencing for Newborn Screening: Results of the NC NEXUS Project

Tamara S. Roman, Stephanie B. Crowley, Myra I. Roche et al. · The American Journal of Human Genetics · 2020 · 125 citations · Full text

, , +16

An Age-Based Framework for Evaluating Genome-Scale Sequencing Results in Newborn Screening

Laura V. Milko, Julianne O’Daniel, Daniela M. DeCristo et al. · The Journal of Pediatrics · 2019 · 85 citations · Full text

, , +14

Clinical validity assessment of genes frequently tested on hereditary breast and ovarian cancer susceptibility sequencing panels

Kristy Lee, Bryce A. Seifert, Hermela Shimelis et al. · Genetics in Medicine · 2018 · 72 citations · Full text

, , +16

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