Is faster better? An economic evaluation of rapid and...
Ilias Goranitis, You Wu, Sebastian Lunke, Susan M White, Tiong Y Tan, Alison Yeung, et...
February 16, 2022
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Ethylmalonic encephalopathy masquerading as meningococcemia
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Deleterious variants in CRLS1 lead to cardiolipin deficiency and...
Richard G Lee, Shanti Balasuramaniam, Maike Stentenbach, Tom Kralj, Timothy McCubbin, Benjamin Padman, et al....
February 11, 2022
Living with a genetic, undiagnosed or rare disease: A...
Byun M, Feller H, Ferrie M, Best S. Health Expectations. 2022.
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Evaluation of a Genetics Education Program for Health Interpreters:...
Vidgen ME, Fowles LF, Istiko SN, Evans E, Cutler K, Sullivan K, et al. Frontiers...
February 3, 2022
Standardizing variation: Scaling up clinical genomics in Australia
Best S, Long JC, Braithwaite J, Taylor N. Genetics in Medicine. 2022.
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Biallelic Variants in PYROXD2 Cause a Severe Infantile Metabolic...
Nicole J. Van Bergen, Daniella H. Hock, Lucy Spencer, Sean Massey, Tegan Stait, Zornitza Stark,...
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A systematic review of geographical inequities for accessing clinical...
Best S, Vidic N, An K, Collins F, White SM. European Journal of Human Genetics....
January 10, 2022
Integrating newborn screening for spinal muscular atrophy into health...
D’Silva AM, Kariyawasam DST, Best S, Wiley V, Farrar MA; NSW SMA NBS Study Group....
November 28, 2021
