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Bess Wayburn

A retrospective review of multiple findings in diagnostic exome sequencing: halF.A.re distinct and halF.A.re overlapping diagnoses
2019 · Erica D. Smith, Kirsten Blanco, et al. · Genetics in Medicine · 107
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Thrombospondin-mediated adhesion is essential for the formation of the myotendinous junction inDrosophila
2007 · Arul Subramanian, Bess Wayburn, et al. · Development · 97
DDM1 Binds Arabidopsis Methyl-CpG Binding Domain Proteins and Affects Their Subnuclear Localization
2005 · Assaf Zemach, Yan Li, et al. · The Plant Cell · 96
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Genes Associated With Hypertrophic Cardiomyopathy
2025 · Sophie Hespe, Amber Waddell, et al. · Journal of the American College of Cardiology · 79
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LRT, a tendon-specific leucine-rich repeat protein, promotes muscle-tendon targeting through its interaction with Robo
2009 · Bess Wayburn, Talila Volk · Development · 46
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Design, Synthesis, and Pharmacological Characterization of 4-[4,4-Dimethyl-3-(4-hydroxybutyl)-5-oxo-2-thioxo-1-imidazolidinyl]- 2-iodobenzonitrile as a High-Affinity Nonsteroidal Androgen Receptor Ligand
2000 · Marcian E. Van Dort, Diane M. Robins, et al. · Journal of Medicinal Chemistry · 42
ChemInform Abstract: Design, Synthesis, and Pharmacological Characterization of 4‐[4,4‐Dimethyl‐3‐(4‐hydroxybutyl)‐5‐oxo‐2‐thioxo‐1‐imidazolidinyl] ‐2‐iodobenzonitrile as a High‐Affinity Nonsteroidal Androgen Receptor Ligand.
2000 · Marcian E. Van Dort, Diane M. Robins, et al. · ChemInform · 8
Diagnostic testing laboratories are valuable partners for disease gene discovery: 5‐year experience with GeneMatcher
2022 · Meghan C. Towne, Mari Rossi, et al. · Human Mutation · 6
Understanding how gene-disease relationships can impact clinical utility: adaptations and challenges in hereditary cancer testing
2025 · Jennifer Herrera-Mullar, Carolyn Horton, et al. · Genome Medicine · 5
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Impact of laboratory-driven proactive reanalysis: Reclassification to positive in 5% of initially negative or uncertain exome sequencing cases
2025 · Meghan C. Towne, Jennifer Huang, et al. · Genetics in Medicine · 5
Clinical validity assessment of genes for inclusion in multi‐gene panel testing: A systematic approach
2019 · Tricia N. Zion, Bess Wayburn, et al. · Molecular Genetics & Genomic Medicine · 4
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Clinical Validity of Autosomal Dominant ALPK3 Loss-of-Function Variants as a Cause of Hypertrophic Cardiomyopathy
2025 · Sophie Hespe, Emma S. Singer, et al. · Circulation Genomic and Precision Medicine · 3
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The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the clinical validity of 111 gene-disease relationships
2025 · Eleanor C. Broeren, Vanessa N. Gitau, et al. · Genetics in Medicine Open · 1
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The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships
2026 · Hamosh, Ada, Berg, Jonathan S., et al. · UNC Libraries
O60: A semi-quantitative framework curating mechanism of pathogenicity in monogenic conditions: A consensus effort of the Gene Curation Coalition
2026 · Fowzan Alkuraya, Joanna Amberger, et al. · Genetics in Medicine Open
P570: Generating a framework for curating mechanism of disease in monogenic conditions: A consensus effort of the Gene Curation Coalition*
2024 · Marina DiStefano, Fowzan Alkuraya, et al. · Genetics in Medicine Open
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P150: ClinGen hereditary cardiovascular disease gene curation expert panel: reappraisal of the validity of hypertrophic cardiomyopathy genes*
2024 · Amber Waddell, Sophie Hespe, et al. · Genetics in Medicine Open
Broad implications of sustained, proactive clinical validity curation
2021 · Deepali Shinde, Bess Wayburn, et al. · Molecular Genetics and Metabolism
Psychosocial impact of targeted exome sequencing on parents of chronically ill children
2016 · Bess Wayburn · D-Scholarship@Pitt (University of Pittsburgh)
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Mitochondrial respiratory chain disorders in the old order Amish population
2015 · Amy Goldstein, Lina Ghaloul-Gonzalez, et al. · Mitochondrion
Works count: 20
Citation count: 498
H-index: 7
I10-index: 6
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