Detalhe da pesquisa
1.
Data sharing to advance gene-targeted therapies in rare diseases.
Am J Med Genet C Semin Med Genet
; 193(1): 87-98, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36594517
2.
Moving away from one disease at a time: Screening, trial design, and regulatory implications of novel platform technologies.
Am J Med Genet C Semin Med Genet
; 193(1): 30-43, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36738469
3.
Molecular Basis and Evolutionary Origin of 1-Nitronaphthalene Catabolism in Sphingobium sp. Strain JS3065.
Appl Environ Microbiol
; 89(1): e0172822, 2023 01 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-36622195
4.
The Human Phenotype Ontology in 2021.
Nucleic Acids Res
; 49(D1): D1207-D1217, 2021 01 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33264411
5.
Special issue: Newborn screening research.
Am J Med Genet C Semin Med Genet
; 190(2): 135-137, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36214312
6.
Newborn screening for Duchenne muscular dystrophy-early detection and diagnostic algorithm for female carriers of Duchenne muscular dystrophy.
Am J Med Genet C Semin Med Genet
; 190(2): 197-205, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36152336
7.
Foundation of the Newborn Screening Translational Research Network and its tools for research.
Genet Med
; 21(6): 1271-1279, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30393376
8.
Including ELSI research questions in newborn screening pilot studies.
Genet Med
; 21(3): 525-533, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30100612
9.
A framework for assessing outcomes from newborn screening: on the road to measuring its promise.
Mol Genet Metab
; 118(4): 221-9, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27268406
10.
Primary Immune Deficiency Treatment Consortium (PIDTC) report.
J Allergy Clin Immunol
; 133(2): 335-47, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24139498
11.
Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States.
JAMA
; 312(7): 729-38, 2014 Aug 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-25138334
12.
Landscape Analysis of Neurodevelopmental Comorbidities in Newborn Screening Conditions: Challenges and Opportunities.
Int J Neonatal Screen
; 10(1)2024 Jan 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38248632
13.
Defining the Minimal Long-Term Follow-Up Data Elements for Newborn Screening.
Int J Neonatal Screen
; 10(2)2024 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38804359
14.
Long-Term Follow-Up Cares and Check Initiative: A Program to Advance Long-Term Follow-Up in Newborns Identified with a Disease through Newborn Screening.
Int J Neonatal Screen
; 10(2)2024 Apr 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38651399
15.
Newborn sequencing is only part of the solution for better child health.
Lancet Reg Health Am
; 25: 100581, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37663526
16.
NBSTRN Tools to Advance Newborn Screening Research and Support Newborn Screening Stakeholders.
Int J Neonatal Screen
; 9(4)2023 Oct 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-37987476
17.
Factors influencing creatine kinase-MM concentrations in newborns and implications for newborn screening for Duchenne muscular dystrophy.
Clin Biochem
; 118: 110614, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37479106
18.
Newborn screening for Duchenne muscular dystrophy: A two-year pilot study.
Ann Clin Transl Neurol
; 10(8): 1383-1396, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37350320
19.
Population-based screening of newborns: Findings from the newborn screening expansion study (part two).
Front Genet
; 13: 867354, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36118861
20.
Using Long-Term Follow-Up Data to Classify Genetic Variants in Newborn Screened Conditions.
Front Genet
; 13: 859837, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35692825