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Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 2, 2024
A national education program for rapid genomics in pediatric acute care: Building workforce confidence, competence, and capabilityGiulia McCorkell, Amy Nisselle, Donna Halton, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 16, 2024
Offering complex genomic screening in acute pediatric settings: Family decision-making and outcomesMelissa Martyn, Ling Lee, Alli Jan, et al.BMJ Open|June 3, 2023
Two-step offer and return of multiple types of additional genomic findings to families after ultrarapid trio genomic testing in the acute care setting: a study protocolSophie E Bouffler, Ling Lee, Fiona Lynch, et al.Journal of Genetic Counseling|February 19, 2019
A novel approach to offering additional genomic findings-A protocol to test a two-step approach in the healthcare systemMelissa Martyn, Anaita Kanga-Parabia, Elly Lynch, et al.European Heart Journal|April 24, 2016
ALPK3-deficient cardiomyocytes generated from patient-derived induced pluripotent stem cells and mutant human embryonic stem cells display abnormal calcium handling and establish that ALPK3 deficiency underlies familial cardiomyopathyDean G Phelan, David J Anderson, Sara E Howden, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 1, 2025
Increased yield of genetic diagnoses in inherited heart diseases using expanded genome and RNA-splicing analysesYuchen Chang, Emma M Rath, Magdalena Soka, et al.Annals of Clinical and Translational Neurology|May 12, 2017
Diagnostic and cost utility of whole exome sequencing in peripheral neuropathyMaie Walsh, Katrina M Bell, Belinda Chong, et al.International Journal of Cardiology|February 13, 2021
Investigation of current models of care for genetic heart disease in Australia: A national clinical auditRachel Austin, Michael C J Quinn, Clifford Afoakwah, et al.JAMA Pediatrics|August 1, 2017
Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic ConditionsTiong Yang Tan, Oliver James Dillon, Zornitza Stark, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 4, 2016
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disordersZornitza Stark, Tiong Y Tan, Belinda Chong, et al.Pageof 5