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European Journal of Human Genetics : EJHG|October 4, 2022
Applying the Clinician-reported Genetic testing Utility InDEx (C-GUIDE) to genome sequencing: further evidence of validityRobin Z Hayeems, Stephanie Luca, Anna C E Hurst, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 6, 2015
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular PathologySue Richards, Nazneen Aziz, Sherri Bale, et al.NPJ Genomic Medicine|April 23, 2021
Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart diseaseNathaly M Sweeney, Shareef A Nahas, Shimul Chowdhury, et al.BMC Health Services Research|November 8, 2020
At the intersection of precision medicine and population health: an implementation-effectiveness study of family health history based systematic risk assessment in primary careLori A Orlando, R Ryanne Wu, Rachel A Myers, et al.Journal of Genetic Counseling|January 4, 2023
Elective genomic testing: Practice resource of the National Society of Genetic CounselorsCarrie L Blout Zawatsky, David Bick, Louise Bier, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 27, 2026
Development and content validation of the Clinician-reported Genetic testing Utility InDEx for genomic newborn screening (C-GUIDE NBS)Salma Shickh, Stephanie Luca, Katharine Fooks, et al.BMC Health Services Research|December 6, 2022
Implementation-effectiveness trial of systematic family health history based risk assessment and impact on clinical disease prevention and surveillance activitiesR Ryanne Wu, Rachel A Myers, Joan Neuner, et al.Oncogene|August 30, 2019
The mitochondrial carrier Citrin plays a role in regulating cellular energy during carcinogenesisShiran Rabinovich, Alon Silberman, Lital Adler, et al.Frontiers in Genetics|June 17, 2022
Developing a National Newborn Genomes Program: An Approach Driven by Ethics, Engagement and Co-designAmanda Pichini, Arzoo Ahmed, Christine Patch, et al.Orphanet Journal of Rare Diseases|June 22, 2023
The evolution of the mitochondrial disease diagnostic odysseyJohn L P Thompson, Amel Karaa, Hung Pham, et al.Pageof 13