Detalhe da pesquisa
1.
Variant STAT4 and Response to Ruxolitinib in an Autoinflammatory Syndrome.
N Engl J Med
; 388(24): 2241-2252, 2023 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37256972
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.
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
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.
Epigenomic Blood-Based Early Detection of Pancreatic Cancer Employing Cell-Free DNA.
Clin Gastroenterol Hepatol
; 21(7): 1802-1809.e6, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36967102
6.
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
7.
Evaluating use of changing technologies for rapid next-generation sequencing in pediatrics.
Pediatr Res
; 92(5): 1364-1369, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35115709
8.
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
9.
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
10.
Rapid Sequencing-Based Diagnosis of Thiamine Metabolism Dysfunction Syndrome.
N Engl J Med
; 384(22): 2159-2161, 2021 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34077649
11.
Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease.
Genet Med
; 21(5): 1121-1130, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30293986
12.
Rapid Whole Genome Sequencing Has Clinical Utility in Children in the PICU.
Pediatr Crit Care Med
; 20(11): 1007-1020, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31246743
13.
Heterozygous WNT1 variant causing a variable bone phenotype.
Am J Med Genet A
; 176(11): 2419-2424, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30246918
14.
Whole exome sequencing in patients with white matter abnormalities.
Ann Neurol
; 79(6): 1031-1037, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27159321
15.
Phenotypic and molecular characterization of 19q12q13.1 deletions: a report of five patients.
Am J Med Genet A
; 164A(1): 62-9, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24243649
16.
Report of two cases of Schaaf-Yang syndrome: Same genotype and different phenotype.
Clin Case Rep
; 11(8): e7753, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37529132
17.
Reclassification of the Etiology of Infant Mortality With Whole-Genome Sequencing.
JAMA Netw Open
; 6(2): e2254069, 2023 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36757698
18.
Associations between maternal genotypes and metabolites implicated in congenital heart defects.
Mol Genet Metab
; 107(3): 596-604, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23059056
19.
Best practices for the interpretation and reporting of clinical whole genome sequencing.
NPJ Genom Med
; 7(1): 27, 2022 Apr 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35395838
20.
An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases.
Nat Commun
; 13(1): 4057, 2022 07 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-35882841