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Published papers

Home Published papers Page 2

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

Ari Elliot Horton, Kai Mun Hong, Dinusha Pandithan, Meredith Allen, Caroline Killick, Stacy Goergen, et al. Cold Spring Harbor Molecular...

February 14, 2022

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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

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Living with a genetic, undiagnosed or rare disease: A...

Byun M, Feller H, Ferrie M, Best S. Health Expectations. 2022.

February 5, 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

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Standardizing variation: Scaling up clinical genomics in Australia

Best S, Long JC, Braithwaite J, Taylor N. Genetics in Medicine. 2022.

January 31, 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,...

January 17, 2022

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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

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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

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In the spirit of reconciliation Australian Genomics acknowledges the Traditional Custodians of country throughout Australia and their connections to land, sea and community. We pay our respect to their elders past and present and extend that respect to all Aboriginal and Torres Strait Islander peoples today.

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