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American Journal of Human Genetics|December 16, 2023
ClinGen guidance for use of the PP1/BS4 co-segregation and PP4 phenotype specificity criteria for sequence variant pathogenicity classificationLeslie G Biesecker, Alicia B Byrne, Steven M Harrison, et al.Human Mutation|May 24, 2018
ClinVar Miner: Demonstrating utility of a Web-based tool for viewing and filtering ClinVar dataAlex Henrie, Sarah E Hemphill, Nicole Ruiz-Schultz, et al.The Journal of Molecular Diagnostics : JMD|August 22, 2025
From Expert Knowledge to Validation Resources: A Case for Using in Silico Approaches to Close the Gap in Available Reference Materials for Common Germline Genetic TestsSomak Roy, Martine W Tremblay, Edward Lockhart, et al.Frontiers in Endocrinology|October 16, 2019
Insulin-Like Peptide 3 (INSL3) Serum Concentration During Human Male Fetal LifeSteven M Harrison, Nicol Corbin Bush, Yi Wang, et al.HGG Advances|January 20, 2022
Low frequency of treatable pediatric disease alleles in gnomAD: An opportunity for future genomic screening of newbornsNina B Gold, Steven M Harrison, Jared H Rowe, et al.Journal of the American College of Cardiology|February 2, 2010
Familial dilated cardiomyopathy caused by an alpha-tropomyosin mutation: the distinctive natural history of sarcomeric dilated cardiomyopathyNeal K Lakdawala, Lisa Dellefave, Charles S Redwood, et al.European Heart Journal|January 14, 2017
Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genesRoddy Walsh, Rachel Buchan, Alicja Wilk, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 17, 2017
Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVarSteven M Harrison, Jill S Dolinsky, Amy E Knight Johnson, et al.American Journal of Human Genetics|June 10, 2022
A calibrated functional patch-clamp assay to enhance clinical variant interpretation in KCNH2-related long QT syndromeConnie Jiang, Ebony Richardson, Jessica Farr, et al.American Journal of Medical Genetics. Part A|August 7, 2013
Screening and familial characterization of copy-number variations in NR5A1 in 46,XY disorders of sex development and premature ovarian failureSteven M Harrison, Ian M Campbell, Melise Keays, et al.Pageof 10