Detalhe da pesquisa
1.
A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases.
Am J Hum Genet
; 109(9): 1605-1619, 2022 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36007526
2.
Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children's hospitals demonstrates improved clinical outcomes and reduced costs of care.
Am J Hum Genet
; 108(7): 1231-1238, 2021 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34089648
3.
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
4.
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
5.
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
6.
Response to Grosse et al.
Am J Hum Genet
; 110(6): 1017, 2023 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37267897
7.
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
8.
Breaking Barriers to Rapid Whole Genome Sequencing in Pediatrics: Michigan's Project Baby Deer.
Children (Basel)
; 10(1)2023 Jan 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36670656
9.
Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease.
NPJ Genom Med
; 6(1): 29, 2021 Apr 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-33888711
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-31019026
11.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-34039980
12.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-34039997