Detalhe da pesquisa
1.
Actionability of unanticipated monogenic disease risks in newborn genomic screening: Findings from the BabySeq Project.
Am J Hum Genet
; 110(7): 1034-1045, 2023 07 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37279760
2.
Parents' decision-making regarding whether to receive adult-onset only genetic findings for their children: Findings from the BabySeq Project.
Genet Med
; 25(3): 100002, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36549595
3.
Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project.
Am J Hum Genet
; 104(1): 76-93, 2019 01 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30609409
4.
A role for abdominal ultrasound in discriminating suspected necrotizing enterocolitis in congenital heart disease patients.
Pediatr Surg Int
; 38(2): 225-233, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-34581859
5.
Discordant results between conventional newborn screening and genomic sequencing in the BabySeq Project.
Genet Med
; 23(7): 1372-1375, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33772220
6.
Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield.
Genet Med
; 22(4): 736-744, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31780822
7.
Quantifying Downstream Healthcare Utilization in Studies of Genomic Testing.
Value Health
; 23(5): 559-565, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32389220
8.
Parental interest in genomic sequencing of newborns: enrollment experience from the BabySeq Project.
Genet Med
; 21(3): 622-630, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30209271
9.
Practice variation of genetic counselor engagement in the cystic fibrosis newborn screen-positive diagnostic resolution process.
J Genet Couns
; 28(6): 1178-1188, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31550062
10.
Role of Genetic Susceptibility in the Development of Bronchopulmonary Dysplasia.
J Pediatr
; 203: 234-241.e2, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30287068
11.
The BabySeq project: implementing genomic sequencing in newborns.
BMC Pediatr
; 18(1): 225, 2018 07 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29986673
12.
Non-sedation of the neonate for radiologic procedures.
Pediatr Radiol
; 48(4): 524-530, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29550867
13.
A curated gene list for reporting results of newborn genomic sequencing.
Genet Med
; 19(7): 809-818, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28079900
14.
Diagnosis of Cystic Fibrosis in Screened Populations.
J Pediatr
; 181S: S33-S44.e2, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28129810
15.
Fetal lung apparent diffusion coefficient measurement using diffusion-weighted MRI at 3 Tesla: Correlation with gestational age.
J Magn Reson Imaging
; 44(6): 1650-1655, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27159847
16.
Development of DNA confirmatory and high-risk diagnostic testing for newborns using targeted next-generation DNA sequencing.
Genet Med
; 17(5): 337-47, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25255367
17.
Prospective evaluation of a prenatal sonographic clubfoot classification system.
Fetal Diagn Ther
; 34(4): 236-40, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-24135764
18.
Update on the diagnosis and management of bronchopulmonary dysplasia/chronic lung disease of infancy: what the radiologist should know.
Pediatr Radiol
; 42 Suppl 1: S92-100, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22395721
19.
Genetic counseling access for parents of newborns who screen positive for cystic fibrosis: Consensus guidelines.
Pediatr Pulmonol
; 57(4): 894-902, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34964558
20.
Urine Proteomics for Noninvasive Monitoring of Biomarkers in Bronchopulmonary Dysplasia.
Neonatology
; 119(2): 193-203, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35073553