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Journal of the American Academy of Orthopaedic Surgeons. Global Research & Reviews|October 20, 2023
Effect of Lower Extremity Osteoarthritis on Outcomes of Lumbar DecompressionJustin J Turcotte, Jane C Brennan, Samantha Baxter, et al.Cardiogenetics|September 25, 2013
Familial dilated cardiomyopathy associated with congenital defects in the setting of a novel VCL mutation (Lys815Arg) in conjunction with a known MYPBC3 variantQuinn S Wells, Natalie L Ausborn, Birgit H Funke, et al.Journal of Biomedical Informatics|April 24, 2012
Usability of a novel clinician interface for genetic resultsPamela M Neri, Stephanie E Pollard, Lynn A Volk, et al.Applied Clinical Informatics|July 21, 2016
Evaluation: A Qualitative Pilot Study of Novel Information Technology Infrastructure to Communicate Genetic Variant UpdatesStephanie Klinkenberg-Ramirez, Pamela M Neri, Lynn A Volk, et al.Biorxiv : the Preprint Server for Biology|February 19, 2024
Considerations for reporting variants in novel candidate genes identified during clinical genomic testingJessica X Chong, Seth I Berger, Samantha Baxter, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 30, 2024
Considerations for reporting variants in novel candidate genes identified during clinical genomic testingJessica X Chong, Seth I Berger, Samantha Baxter, et al.Human Mutation|September 22, 2018
matchbox: An open-source tool for patient matching via the Matchmaker ExchangeHarindra Arachchi, Monica H Wojcik, Benjamin Weisburd, et al.JIMD Reports|April 8, 2026
Unifying the Communities of Early-Onset Glycogen Storage Disease Type IV and Adult Polyglucosan Body Disease Through a Genetic Prevalence Study of GBE1-Related DiseaseRebecca L Koch, H Orhan Akman, Erin Chown, et al.Medrxiv : the Preprint Server for Health Sciences|March 22, 2023
Advanced variant classification framework reduces the false positive rate of predicted loss of function (pLoF) variants in population sequencing dataMoriel Singer-Berk, Sanna Gudmundsson, Samantha Baxter, et al.American Journal of Human Genetics|August 26, 2023
Advanced variant classification framework reduces the false positive rate of predicted loss-of-function variants in population sequencing dataMoriel Singer-Berk, Sanna Gudmundsson, Samantha Baxter, et al.Pageof 5