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European Journal of Human Genetics : EJHG|March 16, 2017
Personal utility in genomic testing: a systematic literature reviewJennefer N Kohler, Erin Turbitt, Barbara B Biesecker
Journal of Genetic Counseling|August 10, 2021
Genetic counselor roles in the undiagnosed diseases network research study: Clinical care, collaboration, and curationJennefer N Kohler, Emily Glanton, Brenna M Boyd, et al.
American Journal of Medical Genetics. Part A|January 4, 2022
Perceived utility and disutility of genomic sequencing for pediatric patients: Perspectives from parents with diverse sociodemographic characteristicsMeghan C Halley, Jennifer L Young, Liliana Fernandez, et al.
Postgraduate Medical Journal|August 24, 2019
Genomics in medicine: a novel elective rotation for internal medicine residentsLinda N Geng, Jennefer N Kohler, Peter Levonian, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 15, 2023
The Parent PrU: A measure to assess personal utility of pediatric genomic resultsErin Turbitt, Jennefer N Kohler, Kyle B Brothers, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 14, 2022
The PrU: Development and validation of a measure to assess personal utility of genomic resultsErin Turbitt, Jennefer N Kohler, Frank Angelo, et al.
Journal of Genetic Counseling|February 2, 2019
Developing a genomics rotation: Practical training around variant interpretation for genetic counseling studentsMegan E Grove, Shana White, Dianna G Fisk, et al.
Nature Metabolism|August 31, 2023
A defect in mitochondrial fatty acid synthesis impairs iron metabolism and causes elevated ceramide levelsDebdeep Dutta, Oguz Kanca, Seul Kee Byeon, et al.
Journal of Genetic Counseling|April 10, 2019
A toolkit for genetics providers in follow-up of patients with non-diagnostic exome sequencingDiane B Zastrow, Jennefer N Kohler, Devon Bonner, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 6, 2018
ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosisCole A Deisseroth, Johannes Birgmeier, Ethan E Bodle, et al.
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