Concepedia

Stephanie B. Crowley

SB

7

Publications

887

Citations

7

H-Index

2018

Active since

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 genetics, medicine, and molecular diagnostics.

Top concepts

GeneticsMedicineMolecular DiagnosticsGenomicsPathologyPediatricsSequencingPublic HealthNeonatal GenomicsNewborn Screening

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 · 438 citations · Full text

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 · 159 citations · Full text

Oncology, Clingen Tp53 Vcep, Genetics +10

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 · 117 citations · Full text

Newborn Screening, Neonatal Genomics, Next-generation Sequencing +8

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 · 81 citations · Full text

Newborn Screening, Neonatal Genomics, Sequencing +11

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 · 69 citations · Full text

Genetic Testing, Breast Oncology, Medicine +11

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