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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.
JCO Precision Oncology|February 1, 2022
Clinical Utility of Real-Time Targeted Molecular Profiling in the Clinical Management of Ovarian Cancer: The ALLOCATE StudyOlga Kondrashova, Gwo-Yaw Ho, George Au-Yeung, et al.
American Journal of Human Genetics|July 22, 2025
The evolution of health data ecosystems: An international surveyJordan P Lerner-Ellis, E Magda Price, Shazia Subhani, et al.
Human Genomics|August 17, 2024
Shaping the future of kidney genetics in Australia: proceedings from the KidGen policy implementation workshop 2023Amali Mallawaarachchi, Erik Biros, Trudie Harris, et al.
BMC Nephrology|February 3, 2025
Enhancing diagnostic outcomes in kidney genetic disorders: the KidGen national kidney genomics study protocolAmali Mallawaarachchi, Hugh McCarthy, Thomas A Forbes, et al.
Genetics in Medicine Open|December 13, 2024
A multitiered analysis platform for genome sequencing: Design and initial findings of the Australian Genomics Cardiovascular Disorders FlagshipRachel Austin, Jaye S Brown, Sarah Casauria, et al.
European Journal of Human Genetics : EJHG|August 3, 2018
Registered access: authorizing data accessStephanie O M Dyke, Mikael Linden, Ilkka Lappalainen, et al.
Cell Genomics|November 25, 2021
The Data Use Ontology to streamline responsible access to human biomedical datasetsJonathan Lawson, Moran N Cabili, Giselle Kerry, et al.
American Journal of Human Genetics|March 3, 2023
Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcareZornitza Stark, Tiffany Boughtwood, Matilda Haas, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 23, 2024
Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohortKerith-Rae Dias, Rupendra Shrestha, Deborah Schofield, et al.
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