Detalhe da pesquisa
1.
Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare.
Am J Hum Genet
; 110(3): 419-426, 2023 03 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36868206
2.
Australian public perspectives on genomic newborn screening: which conditions should be included?
Hum Genomics
; 18(1): 45, 2024 May 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38720401
3.
Determining priority indicators of utility for genomic testing in rare disease: A Delphi study.
Genet Med
; 26(6): 101116, 2024 Mar 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38459833
4.
The cost of proband and trio exome and genome analysis in rare disease: A micro-costing study.
Genet Med
; 26(4): 101058, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38164890
5.
Determining the utility of diagnostic genomics: a conceptual framework.
Hum Genomics
; 17(1): 75, 2023 08 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-37587497
6.
Quality of life in caregivers of a child with a developmental and epileptic encephalopathy.
Dev Med Child Neurol
; 66(2): 206-215, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37421242
7.
Microcosting diagnostic genomic sequencing: A systematic review.
Genet Med
; 25(6): 100829, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36939042
8.
Genomic testing for suspected monogenic kidney disease in children and adults: A health economic evaluation.
Genet Med
; 25(11): 100942, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37489581
9.
The Feasibility and Validity of Preference-Based Quality of Life Measures With Informal Carers: A Think-Aloud Study.
Value Health
; 26(11): 1655-1664, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37516197
10.
QALYs and rare diseases: exploring the responsiveness of SF-6D, EQ-5D-5L and AQoL-8D following genomic testing for childhood and adult-onset rare genetic conditions in Australia.
Health Qual Life Outcomes
; 21(1): 132, 2023 Dec 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38087302
11.
A Randomized Trial of Prophylactic Antibiotics for Miscarriage Surgery.
N Engl J Med
; 380(11): 1012-1021, 2019 03 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-30865795
12.
A Randomized Trial of Progesterone in Women with Bleeding in Early Pregnancy.
N Engl J Med
; 380(19): 1815-1824, 2019 05 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31067371
13.
Is faster better? An economic evaluation of rapid and ultra-rapid genomic testing in critically ill infants and children.
Genet Med
; 24(5): 1037-1044, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35181209
14.
The value of genomic sequencing in complex pediatric neurological disorders: a discrete choice experiment.
Genet Med
; 23(1): 155-162, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32839572
15.
Rapid exome sequencing and adjunct RNA studies confirm the pathogenicity of a novel homozygous ASNS splicing variant in a critically ill neonate.
Hum Mutat
; 41(11): 1884-1891, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32906196
16.
The personal utility and uptake of genomic sequencing in pediatric and adult conditions: eliciting societal preferences with three discrete choice experiments.
Genet Med
; 22(8): 1311-1319, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32371919
17.
A cost-effectiveness analysis of genomic sequencing in a prospective versus historical cohort of complex pediatric patients.
Genet Med
; 22(12): 1986-1993, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32773771
18.
Validity and Responsiveness of Preference-Based Quality-of-Life Measures in Informal Carers: A Comparison of 5 Measures Across 4 Conditions.
Value Health
; 23(6): 782-790, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32540237
19.
Mapping the Minnesota Living with Heart Failure Questionnaire (MLHFQ) onto the Assessment of Quality of Life 8D (AQoL-8D) utility scores.
Qual Life Res
; 29(10): 2815-2822, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-32424804
20.
Parental health spillover effects of paediatric rare genetic conditions.
Qual Life Res
; 29(9): 2445-2454, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-32266555