Author
Stanford Health CareORCID 0000-0001-8662-3353Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
6 papers
Recent·Most cited
Christine G. Preston, Matt W. Wright, Rao Madhavrao…·Helio A. Costa
The paper introduces the ClinGen Variant Curation Interface, a platform for applying ACMG/AMP guidelines to classify genetic variants, enabling collaboration and standardization in clinical variant interpretation.
Joana Rita Chora, Michael A. Iacocca, Lukáš Tichý…·Mafalda Bourbon
The paper provides consensus guidelines for classifying LDLR variants in Familial Hypercholesterolemia using modified ACMG/AMP criteria.
Hannah Wand, Samuel A. Lambert, Cecelia P. Tamburro…·Genevieve L. Wojcik
ClinGen and the PGS Catalog expand the GRIPS guideline into a 22-item Polygenic Risk Score Reporting Statement covering study populations, model construction, evaluation, and clinical interpretation.
Alice B. Popejoy, Kristy Crooks, Stephanie Malia Fullerton…·Kelly E. Ormond
The paper highlights the lack of standard definitions and protocols for collecting and using race, ethnicity, and ancestry data in clinical genetics and precision medicine.
Hannah Wand, Amy Curry Sturm, Lori Hamby Erby…·William M. P. Klein
This study examines factors influencing genetic testing intentions in patients with familial hypercholesterolemia, finding psychological reassurance is the main predictor.
Alice B. Popejoy, Deborah Ritter, Kristy Crooks…·Carlos D. Bustamante
The paper analyzes REA data collection practices and disparities in gnomAD, highlighting the need for standardized frameworks to improve diversity and variant interpretation in clinical genomics.