Stephanie B. Crowley

Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes

C. Caleshu, J. Ware, Q. Wells, 2019, Circulation. Genomic and precision medicine.

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

A. Spurdle, M. Olivier, Kristy Lee, 2020, medRxiv.

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

Tamara S. Roman, J. Berg, Julianne M. O’Daniel, 2020, American journal of human genetics.

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

F. Couch, K. Offit, Kristy Lee, 2018, Genetics in Medicine.

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

J. Berg, Julianne M. O’Daniel, C. Powell, 2019, The Journal of pediatrics.

Specifications of the ACMG/AMP Variant Classification Guidelines for Germline DICER1 Variant Curation.

W. Foulkes, D. Ritter, M. Anderson, 2023, Human mutation.

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

F. Couch, K. Offit, Kristy Lee, 2018, Genetics in Medicine.