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Cold Spring Harbor Molecular Case Studies|February 5, 2020
Mortality in a neonate with molybdenum cofactor deficiency illustrates the need for a comprehensive rapid precision medicine systemStephen F Kingsmore, Nanda Ramchandar, Kiely James, et al.Molecular Genetics & Genomic Medicine|July 27, 2021
A study of elective genome sequencing and pharmacogenetic testing in an unselected populationMeagan Cochran, Kelly East, Veronica Greve, et al.Journal of Genetic Counseling|April 10, 2019
Understanding the present and preparing for the future: Exploring the needs of diagnostic and elective genomic medicine patientsKelly M East, Meagan Cochran, Whitley V Kelley, et al.Cancer Reports (Hoboken, N.J.)|September 5, 2024
Parent and patient knowledge and attitudes about cancer predisposition syndrome genetic testing in pediatric oncology: Understanding sociodemographic and parent-child differencesChelsea S Rapoport, Diane Masser-Frye, Sapna Mehta, et al.Cold Spring Harbor Molecular Case Studies|June 15, 2019
Neonatal diabetes mellitus due to a novel variant in the INS geneSarah E Laurenzano, Cory McFall, Linda Nguyen, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 30, 2021
Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)Catherine Rehder, Lora J H Bean, David Bick, et al.American Journal of Medical Genetics. Part A|November 26, 2021
Improved attention linked to sustained phenylalanine reduction in adults with early-treated phenylketonuriaDeborah A Bilder, Georgianne L Arnold, David Dimmock, et al.Molecular Genetics and Metabolism|November 28, 2008
Citrin deficiency, a perplexing global disorderDavid Dimmock, Bruno Maranda, Carlo Dionisi-Vici, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 7, 2026
Interventional Genomics: Bridging Germline Diagnosis and Therapeutic ActionPetros Giannikopoulos, Marlen C Lauffer, Christian R Marshall, et al.International Journal of Neonatal Screening|July 27, 2022
Newborn Screening by Genomic Sequencing: Opportunities and ChallengesDavid Bick, Arzoo Ahmed, Dasha Deen, et al.Pageof 13