[HTML][HTML] Air and water pollution: burden and strategies for control
T Kjellstrom, M Lodh, T McMichael… - … Control Priorities in …, 2006 - ncbi.nlm.nih.gov
Environmental pollution has many facets, and the resultant health risks include diseases in
almost all organ systems. Thus, a chapter on air and water pollution control links with …
almost all organ systems. Thus, a chapter on air and water pollution control links with …
Neuropsychiatric manifestations of thyroid disease
AZ Feldman, RT Shrestha… - … and Metabolism Clinics, 2013 - endo.theclinics.com
For more than 125 years 1 it has been recognized that thyroid disease may give rise to
psychiatric disorders that can be corrected by reestablishment of normal thyroid function …
psychiatric disorders that can be corrected by reestablishment of normal thyroid function …
[HTML][HTML] Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases
Childhood-onset muscle disorders are genetically heterogeneous. Diagnostic workup has
traditionally included muscle biopsy, protein-based studies of muscle specimens, and …
traditionally included muscle biopsy, protein-based studies of muscle specimens, and …
Diagnostic impact and cost-effectiveness of whole-exome sequencing for ambulant children with suspected monogenic conditions
Importance Optimal use of whole-exome sequencing (WES) in the pediatric setting requires
an understanding of who should be considered for testing and when it should be performed …
an understanding of who should be considered for testing and when it should be performed …
[HTML][HTML] Prospective comparison of the cost-effectiveness of clinical whole-exome sequencing with that of usual care overwhelmingly supports early use and …
Purpose: To undertake the first prospective cost-effectiveness study of whole-exome
sequencing (WES) as an early, routine clinical test for infants with suspected monogenic …
sequencing (WES) as an early, routine clinical test for infants with suspected monogenic …
Chronic disease and labour force participation among older Australians
Objective: To examine the association between long‐term health conditions and being out of
the labour force among older Australians. Design, setting and participants: Retrospective …
the labour force among older Australians. Design, setting and participants: Retrospective …
Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders
LJ Ewans, D Schofield, R Shrestha, Y Zhu… - Genetics in …, 2018 - nature.com
Purpose Whole-exome sequencing (WES) has revolutionized Mendelian diagnostics,
however, there is no consensus on the timing of data review in undiagnosed individuals and …
however, there is no consensus on the timing of data review in undiagnosed individuals and …
Association of biotin ingestion with performance of hormone and nonhormone assays in healthy adults
Importance Biotinylated antibodies and analogues, with their strong binding to streptavidin,
are used in many clinical laboratory tests. Excess biotin in blood due to supplemental biotin …
are used in many clinical laboratory tests. Excess biotin in blood due to supplemental biotin …
Does genomic sequencing early in the diagnostic trajectory make a difference? A follow-up study of clinical outcomes and cost-effectiveness
Z Stark, D Schofield, M Martyn, L Rynehart… - Genetics in …, 2019 - nature.com
Purpose To systematically investigate the longer-term clinical and health economic impacts
of genomic sequencing for rare-disease diagnoses. Methods We collected information on …
of genomic sequencing for rare-disease diagnoses. Methods We collected information on …
[HTML][HTML] Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis
LJ Ewans, AE Minoche, D Schofield… - European Journal of …, 2022 - nature.com
Whole genome sequencing (WGS) improves Mendelian disorder diagnosis over whole
exome sequencing (WES); however, additional diagnostic yields and costs remain …
exome sequencing (WES); however, additional diagnostic yields and costs remain …