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Claire Jackson

As seen in: Nature, CSIRO Publishing
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Articles by Claire Jackson

RNA sequencing significantly improves HYDIN diagnosis and defines the effects of common deletions in primary ciliary dyskinesia

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By Carolina Jaramillo Oquendo, Janice Coles, Lee Baker, David Bunyan, N. Thomas, James Thompson, Gemma L. Fryatt, Sajida Khan, David Hunt, John Holloway, Jane Lucas, Diana Baralle, Woolf Walker, Claire Jackson
| Nature Verified
Abstract Primary Ciliary Dyskinesia (PCD) is a rare genetic disorder affecting ~1:7500 individuals characterised by recurrent chronic respiratory infections, bronchiectasis, laterality defects, and infertility. While at least 60 PCD-causing genes are reported, approximately 30% of patients remain without a confirmed molecular diagnosis. PCD caused by biallelic HYDIN variants is difficult to diagnose due to a 98% homologous pseudogene (HYDIN2).
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Telehealth, care access and workforce – are the stars finally aligning?

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By Claire Jackson
| CSIRO Publishing Verified
Claire Jackson A * + Author Affiliations - Author Affiliations A UQ/MRI Centre for Health System Reform and Integration, University of Queensland, Qld, Australia. Australian Health Review 46(3) 260-261 https://doi.org/10.1071/AH22127 Submitted: 20 May 2022  Accepted: 20 May 2022   Published: 2 June 2022 © 2022 The Author(s) (or their employer(s)). Published by CSIRO Publishing on behalf of AHHA.
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