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1.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-35181209
2.
Evaluating the resource implications of different service delivery models for offering additional genomic findings.
Genet Med
; 23(4): 606-613, 2021 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-33214711
3.
Clinical impact of genomic testing in patients with suspected monogenic kidney disease.
Genet Med
; 23(1): 183-191, 2021 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-32939031
4.
Ensuring best practice in genomics education and evaluation: reporting item standards for education and its evaluation in genomics (RISE2 Genomics).
Genet Med
; 23(7): 1356-1365, 2021 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-33824503
5.
Utility of clinical comprehensive genomic characterization for diagnostic categorization in patients presenting with hypocellular bone marrow failure syndromes.
Haematologica
; 106(1): 64-73, 2021 01 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-32054657
6.
Exome sequencing in newborns with congenital deafness as a model for genomic newborn screening: the Baby Beyond Hearing project.
Genet Med
; 22(5): 937-944, 2020 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-31974413
7.
Parental experiences of ultrarapid genomic testing for their critically unwell infants and children.
Genet Med
; 22(12): 1976-1985, 2020 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-32719395
8.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-32773771
9.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-32424804
10.
A cost-effectiveness model of genetic testing and periodical clinical screening for the evaluation of families with dilated cardiomyopathy.
Genet Med
; 21(12): 2815-2822, 2019 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-31222143
11.
Correction: Does genomic sequencing early in the diagnostic trajectory make a difference? A follow-up study of clinical outcomes and cost-effectiveness.
Genet Med
; 21(2): 516, 2019 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-30158691
12.
Does genomic sequencing early in the diagnostic trajectory make a difference? A follow-up study of clinical outcomes and cost-effectiveness.
Genet Med
; 21(1): 173-180, 2019 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-29765138
13.
Erratum to: Utility of clinical comprehensive genomic characterization for diagnostic categorization in patients presenting with hypocellular bone marrow failure syndromes.
Haematologica
; 109(4): 1311, 2024 Apr 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-38562077
14.
Diagnostic and service impact of genomic testing technologies in a neonatal intensive care unit.
J Paediatr Child Health
; 55(11): 1309-1314, 2019 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-30756437
15.
A novel approach to offering additional genomic findings-A protocol to test a two-step approach in the healthcare system.
J Genet Couns
; 28(2): 388-397, 2019 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-30776170
16.
Meeting the challenges of implementing rapid genomic testing in acute pediatric care.
Genet Med
; 20(12): 1554-1563, 2018 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-29543227
17.
Informed decision making and psychosocial outcomes in pregnant and nonpregnant women offered population fragile X carrier screening.
Genet Med
; 19(12): 1346-1355, 2017 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-28661491
18.
Clinical audit of genetic testing and referral patterns for fragile X and associated conditions.
Am J Med Genet A
; 170(6): 1439-49, 2016 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-26892444
19.
Eliciting parental preferences and values for the return of additional findings from genomic sequencing.
NPJ Genom Med
; 9(1): 10, 2024 Feb 14.
Artículo
en Inglés
| MEDLINE | ID: mdl-38355752
20.
Secondary use of genomic data: patients' decisions at point of testing and perspectives to inform international data sharing.
Eur J Hum Genet
; 2024 Mar 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-38528053