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Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 8, 2018
Implementation, adoption, and utility of family health history risk assessment in diverse care settings: evaluating implementation processes and impact with an implementation frameworkR Ryanne Wu, Rachel A Myers, Nina Sperber, et al.Applied Clinical Informatics|March 14, 2019
Effect of Sociodemographic Factors on Uptake of a Patient-Facing Information Technology Family Health History Risk Assessment PlatformR Ryanne Wu, Rachel A Myers, Adam H Buchanan, et al.NPJ Genomic Medicine|April 13, 2018
Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalizationLauge Farnaes, Amber Hildreth, Nathaly M Sweeney, et al.Clinical Journal of the American Society of Nephrology : CJASN|April 10, 2015
Characterization of a New DGKE Intronic Mutation in Genetically Unsolved Cases of Familial Atypical Hemolytic Uremic SyndromeCaterina Mele, Mathieu Lemaire, Paraskevas Iatropoulos, et al.Open Forum Infectious Diseases|June 9, 2021
Metagenomic Next-Generation Sequencing for Pathogen Detection and Transcriptomic Analysis in Pediatric Central Nervous System InfectionsNanda Ramchandar, Nicole G Coufal, Anna S Warden, et al.Journal of Neuropathology and Experimental Neurology|June 1, 2018
Sdha+/- Rats Display Minimal Muscle Pathology Without Significant Behavioral or Biochemical AbnormalitiesEmily M Siebers, Melinda J Choi, Jennifer A Tinklenberg, et al.American Journal of Medical Genetics. Part A|October 28, 2020
ECHS1 disease in two unrelated families of Samoan descent: Common variant - rare disorderMariella T Simon, Shaya S Eftekharian, Sacha Ferdinandusse, et al.JAMA Pediatrics|February 15, 2021
Novel Variant Findings and Challenges Associated With the Clinical Integration of Genomic Testing: An Interim Report of the Genomic Medicine for Ill Neonates and Infants (GEMINI) StudyJill L Maron, Stephen F Kingsmore, Kristen Wigby, et al.Molecular Genetics and Metabolism|June 18, 2016
Solid organ transplantation in primary mitochondrial disease: Proceed with cautionSumit Parikh, Amel Karaa, Amy Goldstein, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 20, 2025
Assessment of the variant prioritization strategy for genomic newborn screening in the Generation StudyJoanna Kaplanis, Dasha Deen, Prasanth Sivakumar, et al.Pageof 13