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European Journal of Human Genetics : EJHG|August 16, 2012
Intentions to receive individual results from whole-genome sequencing among participants in the ClinSeq studyFlavia M Facio, Haley Eidem, Tyler Fisher, et al.American Journal of Human Genetics|June 19, 2012
Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genesJennifer J Johnston, Wendy S Rubinstein, Flavia M Facio, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 19, 2014
Preliminary validation of a consumer-oriented colorectal cancer risk assessment tool compatible with the US Surgeon General's My Family Health PortraitW Gregory Feero, Flavia M Facio, Emily A Glogowski, et al.Medrxiv : the Preprint Server for Health Sciences|February 20, 2025
Calibrated Functional Data Decreases Clinical Uncertainty for Tier 1 Monogenic Disease: Application to Long QT SyndromeChai-Ann Ng, Matthew J O'Neill, Samskruthi R Padigepati, et al.American Journal of Human Genetics|January 30, 2025
Experience using conventional compared to ancestry-based population descriptors in clinical genomics laboratoriesKathryn E Hatchell, Sarah R Poll, Emily M Russell, et al.Atherosclerosis|July 13, 2010
FOS expression in blood as a LDL-independent marker of statin treatmentJu-Gyeong Kang, Ho Joong Sung, Sarah I Jawed, et al.Muscle & Nerve|January 3, 2021
Differentiating Moebius syndrome and other congenital facial weakness disorders with electrodiagnostic studiesTanya Lehky, Reversa Joseph, Camilo Toro, et al.Human Genetics|April 23, 2025
Harnessing genotype and phenotype data for population-scale variant classification using large language models and bayesian inferenceToby R Manders, Christopher A Tan, Yuya Kobayashi, et al.Journal of the National Comprehensive Cancer Network : JNCCN|April 30, 2025
Utilization of Cancer Screening, Prevention, and Treatment in Women With Variants of Uncertain Significance in Breast Cancer Susceptibility GenesSarah M Nielsen, Emily M Russell, Rachel E Ellsworth, et al.JAMA Network Open|October 25, 2023
Rates and Classification of Variants of Uncertain Significance in Hereditary Disease Genetic TestingElaine Chen, Flavia M Facio, Kerry W Aradhya, et al.Pageof 3