User profiles for "author:Rupendra Shrestha"

Rupendra Shrestha

- Verified email at mq.edu.au - Cited by 3765

Rupendra T. Shrestha

- Verified email at umn.edu - Cited by 532

[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 …

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 …

[HTML][HTML] Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases

D Schofield, K Alam, L Douglas, R Shrestha… - NPJ genomic …, 2017 - nature.com
Childhood-onset muscle disorders are genetically heterogeneous. Diagnostic workup has
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

TY Tan, OJ Dillon, Z Stark, D Schofield, K Alam… - JAMA …, 2017 - jamanetwork.com
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 …

[HTML][HTML] Prospective comparison of the cost-effectiveness of clinical whole-exome sequencing with that of usual care overwhelmingly supports early use and …

Z Stark, D Schofield, K Alam, W Wilson, N Mupfeki… - Genetics in …, 2017 - nature.com
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 …

Chronic disease and labour force participation among older Australians

DJ Schofield, RN Shrestha, ME Passey… - Medical Journal of …, 2008 - Wiley Online Library
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 …

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 …

Association of biotin ingestion with performance of hormone and nonhormone assays in healthy adults

D Li, A Radulescu, RT Shrestha, M Root, AB Karger… - Jama, 2017 - jamanetwork.com
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 …

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 …

[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 …