Exome sequencing as the first‐tier test for pediatric respiratory diseases: A single‐center study
Sign Up to like & getrecommendations! Published in 2021 at "Human Mutation"
DOI: 10.1002/humu.24216
Abstract: The high clinical and genetic heterogeneity makes it difficult to reach a confirmative diagnosis of suspected pediatric respiratory inherited diseases. Many patients with monogenic respiratory disorders could be missed without genetic testing. We performed a… read more here.
Keywords: medicine; first tier; tier test; pediatric respiratory ... See more keywords
Comparison of first‐tier cell‐free DNA screening for common aneuploidies with conventional publically funded screening
Sign Up to like & getrecommendations! Published in 2017 at "Prenatal Diagnosis"
DOI: 10.1002/pd.5174
Abstract: This study evaluates the impact of offering cell‐free DNA (cfDNA) screening as a first‐tier test for trisomies 21 and 18. read more here.
Keywords: first tier; free dna; cell free; tier cell ... See more keywords
Non‐invasive prenatal testing for everybody or contingent screening?
Sign Up to like & getrecommendations! Published in 2022 at "Prenatal Diagnosis"
DOI: 10.1002/pd.6296
Abstract: OBJECTIVE To compare the advantages and disadvantages of two main implementation strategies for non-invasive prenatal testing (NIPT) for the detection of trisomies 21, 13 and 18 in public healthcare settings. These concern NIPT as a… read more here.
Keywords: prenatal testing; non invasive; invasive prenatal; first tier ... See more keywords
Piggy in the Middle: How Direct Customer Power Affects First-Tier Suppliers’ Adoption of Socially Responsible Procurement Practices and Performance
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Business Ethics"
DOI: 10.1007/s10551-016-3387-0
Abstract: Companies are faced with a choice of which type of power to use in their efforts to persuade their first-tier suppliers to adopt socially responsible procurement practices with key second-tier suppliers. However, we know little… read more here.
Keywords: socially responsible; responsible procurement; first tier; power ... See more keywords
Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders
Sign Up to like & getrecommendations! Published in 2019 at "Genetics in Medicine"
DOI: 10.1038/s41436-019-0554-6
Abstract: PurposeFor neurodevelopmental disorders (NDDs), etiological evaluation can be a diagnostic odyssey involving numerous genetic tests, underscoring the need to develop a streamlined algorithm maximizing molecular diagnostic yield for this clinical indication. Our objective was to… read more here.
Keywords: exome sequencing; first tier; consensus; yield ... See more keywords
Population-based, first-tier genomic newborn screening in the maternity ward
Sign Up to like & getrecommendations! Published in 2025 at "Nature Medicine"
DOI: 10.1038/s41591-024-03465-x
Abstract: The rapid development of therapies for severe and rare genetic conditions underlines the need to incorporate first-tier genetic testing into newborn screening (NBS) programs. A workflow was developed to screen newborns for 165 treatable pediatric… read more here.
Keywords: maternity ward; newborn screening; first tier; population based ... See more keywords
Multiplexing Homocysteine into First-Tier Newborn Screening Mass Spectrometry Assays Using Selective Thiol Derivatization.
Sign Up to like & getrecommendations! Published in 2023 at "Clinical chemistry"
DOI: 10.1093/clinchem/hvad007
Abstract: BACKGROUND Classical homocystinuria (HCU) results from deficient cystathionine β-synthase activity, causing elevated levels of Met and homocysteine (Hcy). Newborn screening (NBS) aims to identify HCU in pre-symptomatic newborns by assessing Met concentrations in first-tier screening.… read more here.
Keywords: homocysteine; mass spectrometry; first tier; hcy ... See more keywords
Genetic testing in the diagnosis of cerebral palsy: First‐tier for all versus a ‘choosing wisely’ approach
Sign Up to like & getrecommendations! Published in 2025 at "Developmental Medicine and Child Neurology"
DOI: 10.1111/dmcn.16327
Abstract: This commentary is on the original article by Tantsis et al. on pages 1443–1452 of this issue. read more here.
Keywords: palsy first; cerebral palsy; first tier; genetic testing ... See more keywords
The development of new occupation practitioners in China’s first-tier cities: A comparative analysis
Sign Up to like & getrecommendations! Published in 2024 at "PLOS ONE"
DOI: 10.1371/journal.pone.0284148
Abstract: Owing to the increasingly complex economic environment and difficult employment situation, a large number of new occupations have emerged in China, leading to job diversification. Currently, the overall development status of new occupations in China… read more here.
Keywords: occupation; new occupation; occupation practitioners; first tier ... See more keywords
Clinical experience of genome-wide non-invasive prenatal testing as a first-tier screening test in a cohort of 59,771 pregnancies
Sign Up to like & getrecommendations! Published in 2025 at "PLOS One"
DOI: 10.1371/journal.pone.0329463
Abstract: Objective Genome-wide non-invasive prenatal testing (GW-NIPT) for prenatal screening has been widely implemented. However, the related clinical data is still insufficient. Here, we evaluated the clinical performance of GW-NIPT as a first-tier screening test for… read more here.
Keywords: wide non; genome wide; first tier; prenatal testing ... See more keywords
Reliability characteristics of first-tier photovoltaic panels for agrivoltaic systems – practical consequences
Sign Up to like & getrecommendations! Published in 2024 at "International Agrophysics"
DOI: 10.31545/intagr/192173
Abstract: . A vast majority of PV panel suppliers declare a PV panel lifetime in the range of 20-30 years (typically 25 years). Our data from long-term monitoring of many PV power plants indicate that first-tier… read more here.
Keywords: panel; reliability characteristics; first tier; agrivoltaic systems ... See more keywords