Detalhe da pesquisa
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.
Artigo
em Inglês
| 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.
Artigo
em Inglês
| 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.
Artigo
em Inglês
| MEDLINE | ID: mdl-31564432
4.
A systematic review of dissemination and implementation science capacity building programs around the globe.
Implement Sci Commun
; 4(1): 34, 2023 Mar 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-36973832
5.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-37429778
6.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-31019026
7.
The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants.
NPJ Genom Med
; 3: 6, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29449963
8.
Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization.
NPJ Genom Med
; 3: 10, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29644095
9.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-29266105
10.
Newborn Sequencing in Genomic Medicine and Public Health.
Pediatrics
; 139(2)2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-28096516
11.
Constellation: a tool for rapid, automated phenotype assignment of a highly polymorphic pharmacogene, CYP2D6, from whole-genome sequences.
NPJ Genom Med
; 1: 15007, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-29263805
12.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-25937001
13.
A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases.
Genome Med
; 7: 100, 2015 Sep 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-26419432