Detalhe da pesquisa
1.
Rapid Whole-Genome Sequencing and Clinical Management in the PICU: A Multicenter Cohort, 2016-2023.
Pediatr Crit Care Med
; 2024 Apr 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38668387
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.
Failure to thrive - an overlooked manifestation of KMT2B-related dystonia: a case presentation.
BMC Neurol
; 20(1): 246, 2020 Jun 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-32546208
5.
Multi-center implementation of rapid whole genome sequencing provides additional evidence of its utility in the pediatric inpatient setting.
Front Pediatr
; 12: 1349519, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38440187
6.
Moving Genomics to Routine Care: An Initial Pilot in Acute Cardiovascular Disease.
Circ Genom Precis Med
; 13(5): 406-416, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32847406
7.
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