Author

Randy Cockerell

Observed institution: University of North Carolina at Chapel Hill

OpenAlex ID: A5116662564

PB3437 Specifications of ACMG/AMP Variant Curation Guidelines for VWF variants in quantitative von Willebrand disease: Recommendations by ClinGen’s von Willebrand Disease Variant Curation Expert Panel

2026 · Justyne Ross, Kristy Lee, et al. · Research and Practice in Thrombosis and Haemostasis

O43: Crowd-sourced annotation: A curation tool engaging future medical genomics professionals

2025 · Pepper St. Clair, Justyne Ross, et al. · Genetics in Medicine Open

P004: Variant curation guideline specifications for ABCD1 from the ClinGen Peroxisomal Variant Curation Expert Panel*

2025 · Shruthi Mohan, Irene DeBiase, et al. · Genetics in Medicine Open

Works count: 3

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