International Undiagnosed Diseases Programs (UDPs): components and outcomes
E Curic, L Ewans, R Pysar, F Taylan, LD Botto… - Orphanet Journal of …, 2023 - Springer
Over the last 15 years, Undiagnosed Diseases Programs have emerged to address the
significant number of individuals with suspected but undiagnosed rare genetic diseases …
significant number of individuals with suspected but undiagnosed rare genetic diseases …
Uptake of funded genomic testing for syndromic and non-syndromic intellectual disability in Australia
DA Mordaunt, K Dalziel, I Goranitis… - European Journal of …, 2023 - nature.com
Lack of reimbursement for genomic testing in rare diseases is recognized as one of the
principal barriers to wider implementation within healthcare systems [1]. Multiple studies …
principal barriers to wider implementation within healthcare systems [1]. Multiple studies …
Evaluation and pilot testing of a multidisciplinary model of care to mainstream genomic testing for paediatric inborn errors of immunity
T Yanes, A Sullivan, P Barbaro, K Brion… - European Journal of …, 2023 - nature.com
Molecular diagnosis of paediatric inborn errors of immunity (IEI) influences management
decisions and alters clinical outcomes, through early use of targeted and curative therapies …
decisions and alters clinical outcomes, through early use of targeted and curative therapies …
[HTML][HTML] Benchmarking non-attendance patterns in paediatric medical imaging: A retrospective cohort study spotlighting First Nations children
M Cleary, C Edwards, J Mitchell-Watson, J Yang… - Radiography, 2024 - Elsevier
Abstract Introduction Non-attendance at Medical Imaging (MI) appointments can result in
inefficiencies in healthcare resource allocation, increased financial burdens, and lead to …
inefficiencies in healthcare resource allocation, increased financial burdens, and lead to …
[HTML][HTML] Hereditary angioedema prevalence and satisfaction with prophylaxis in South Australia
A Troelnikov, K Milburn, P Hissaria, TTA Le… - World Allergy …, 2024 - Elsevier
Background Hereditary angioedema (HAE) due to deficiency of C1 Inhibitor (C1INH-HAE) is
a rare, unpredictable and potentially fatal genetic disorder. There are relatively few …
a rare, unpredictable and potentially fatal genetic disorder. There are relatively few …
Genomic characterisation of clinically significant blood group variants in Aboriginal Australians: Blood group diversity in Aboriginal Australians
S Jadhao, C Davison, E Roulis, S Lee… - Blood …, 2024 - bloodtransfusion.it
Background-Hematological disorders are often treated with blood transfusions. Many blood
group antigens and variants are population-specific, and for patients with rare blood types …
group antigens and variants are population-specific, and for patients with rare blood types …