Detalhe da pesquisa
1.
Bedside Back to Bench: Building Bridges between Basic and Clinical Genomic Research.
Cell
; 169(1): 6-12, 2017 03 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-28340351
2.
Cell-type-resolved mosaicism reveals clonal dynamics of the human forebrain.
Nature
; 629(8011): 384-392, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38600385
3.
The Role of Genome Sequencing in Neonatal Intensive Care Units.
Annu Rev Genomics Hum Genet
; 23: 427-448, 2022 08 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-35676073
4.
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
5.
The Plasma Lipidomic Landscape in Patients with Sepsis due to Community-acquired Pneumonia.
Am J Respir Crit Care Med
; 209(8): 973-986, 2024 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38240721
6.
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
7.
Genome sequencing detects a wide range of clinically relevant copy-number variants and other genomic alterations.
Genet Med
; 26(1): 101006, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37869996
8.
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
9.
Are we prepared to deliver gene-targeted therapies for rare diseases?
Am J Med Genet C Semin Med Genet
; 193(1): 7-12, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36691939
10.
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
11.
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
12.
Insights into the perinatal phenotype of Kabuki syndrome in infants identified by genome-wide sequencing.
Am J Med Genet A
; 191(4): 930-940, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36651673
13.
Rapid Whole-Genomic Sequencing and a Targeted Neonatal Gene Panel in Infants With a Suspected Genetic Disorder.
JAMA
; 330(2): 161-169, 2023 07 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37432431
14.
Dispatches from Biotech beginning BeginNGS: Rapid newborn genome sequencing to end the diagnostic and therapeutic odyssey.
Am J Med Genet C Semin Med Genet
; 190(2): 243-256, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36218021
15.
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
16.
Retrospective identification of prenatal fetal anomalies associated with diagnostic neonatal genomic sequencing results.
Prenat Diagn
; 42(6): 705-716, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35141907
17.
Response to Grosse et al.
Am J Hum Genet
; 110(6): 1017, 2023 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37267897
18.
Discriminating Bacterial and Viral Infection Using a Rapid Host Gene Expression Test.
Crit Care Med
; 49(10): 1651-1663, 2021 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33938716
19.
One in seven pathogenic variants can be challenging to detect by NGS: an analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation.
Genet Med
; 23(9): 1673-1680, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34007000
20.
Correction: Whole exome sequencing reveals HSPA1L as a genetic risk factor for spontaneous preterm birth.
PLoS Genet
; 14(9): e1007673, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30212495