Author
Northwestern UniversityORCID 0000-0001-9480-1092Unclaimed ORCID profile · follow to get notified of new preprints
6 papers
Recent·Most cited
Miranda L. G. Hallquist, Maia J. Borensztein, Curtis R. Coughlin…·Kelly E. Ormond
The paper surveys genetic professionals on the sufficiency of core informed consent concepts for genetic testing, finding high agreement on their adequacy for informed decision-making.
Hai Hu, Viktoriya Korchina, Hana Zouk…·Donna Marie Muzny
The paper validates genetic sex using a 96-SNP PCR panel to track samples in clinical testing and identify inconsistencies.
Kelly E. Ormond, Maia J. Borensztein, Miranda L. G. Hallquist…·Curtis R. Coughlin
This study identifies core concepts essential for informed consent in genetic testing through a Delphi process involving experts in genetics and bioethics.
Tess D. Pottinger, Megan J. Puckelwartz, Lorenzo L. Pesce…·Elizabeth M. McNally
The paper uses longitudinal biobank data to analyze genetic associations with cardiovascular phenotypes, identifying novel variants near WLS and MYO10 genes.
Yoonjung Yoonie Joo, Jennifer A. Pacheco, William K Thompson…·M. Geoffrey Hayes
This study uses NLP to identify diverticular disease from EHRs and performs GWAS and PheWAS across multiple ancestries to find genetic risk variants and clinical associations.
Tess D. Pottinger, Megan J. Puckelwartz, Lorenzo L. Pesce…·Elizabeth M. McNally