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1.
A Prospective Study of Parental Perceptions of Rapid Whole-Genome and -Exome Sequencing among Seriously Ill Infants.
Am J Hum Genet
; 107(5): 953-962, 2020 11 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-33157008
2.
An RCT of Rapid Genomic Sequencing among Seriously Ill Infants Results in High Clinical Utility, Changes in Management, and Low Perceived Harm.
Am J Hum Genet
; 107(5): 942-952, 2020 11 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-33157007
3.
A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill Infants.
Am J Hum Genet
; 105(4): 719-733, 2019 10 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-31564432
4.
Assessing Diversity in Newborn Genomic Sequencing Research Recruitment: Race/Ethnicity and Primary Spoken Language Variation in Eligibility, Enrollment, and Reasons for Declining.
Clin Ther
; 45(8): 736-744, 2023 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-37429778
5.
A systematic review of dissemination and implementation science capacity building programs around the globe.
Implement Sci Commun
; 4(1): 34, 2023 Mar 27.
Artículo
en Inglés
| MEDLINE | ID: mdl-36973832
6.
A citation analysis and scoping systematic review of the operationalization of the Practical, Robust Implementation and Sustainability Model (PRISM).
Implement Sci
; 17(1): 62, 2022 09 24.
Artículo
en Inglés
| MEDLINE | ID: mdl-36153628
7.
Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease.
NPJ Genom Med
; 6(1): 29, 2021 Apr 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-33888711
8.
A systematic literature review of Native American and Pacific Islanders' perspectives on health data privacy in the United States.
J Am Med Inform Assoc
; 27(12): 1987-1998, 2020 12 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-33063114
9.
A Vision for Empirical ELSI along the R&D Pipeline.
AJOB Empir Bioeth
; 15(2): 81-86, 2024.
Artículo
en Inglés
| MEDLINE | ID: mdl-38214924
10.
Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation.
Sci Transl Med
; 11(489)2019 04 24.
Artículo
en Inglés
| MEDLINE | ID: mdl-31019026
11.
The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants.
NPJ Genom Med
; 3: 6, 2018.
Artículo
en Inglés
| MEDLINE | ID: mdl-29449963
12.
Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization.
NPJ Genom Med
; 3: 10, 2018.
Artículo
en Inglés
| MEDLINE | ID: mdl-29644095
13.
Erratum: Constellation: a tool for rapid, automated phenotype assignment of a highly polymorphic pharmacogene, CYP2D6, from whole-genome sequences.
NPJ Genom Med
; 2: 16039, 2017.
Artículo
en Inglés
| MEDLINE | ID: mdl-29266105
14.
Newborn Sequencing in Genomic Medicine and Public Health.
Pediatrics
; 139(2)2017 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-28096516
15.
Publisher Correction: Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease.
NPJ Genom Med
; 6(1): 39, 2021 May 26.
Artículo
en Inglés
| MEDLINE | ID: mdl-34039980
16.
Author Correction: Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease.
NPJ Genom Med
; 6(1): 38, 2021 May 26.
Artículo
en Inglés
| MEDLINE | ID: mdl-34039997
17.
Constellation: a tool for rapid, automated phenotype assignment of a highly polymorphic pharmacogene, CYP2D6, from whole-genome sequences.
NPJ Genom Med
; 1: 15007, 2016.
Artículo
en Inglés
| MEDLINE | ID: mdl-29263805
18.
Clinical detection of deletion structural variants in whole-genome sequences.
NPJ Genom Med
; 1: 16026, 2016.
Artículo
en Inglés
| MEDLINE | ID: mdl-29263817
19.
A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases.
Genome Med
; 7: 100, 2015 Sep 30.
Artículo
en Inglés
| MEDLINE | ID: mdl-26419432
20.
Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings.
Lancet Respir Med
; 3(5): 377-87, 2015 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-25937001
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