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
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
Towards a Change in the Diagnostic Algorithm of Autism Spectrum Disorders: Evidence Supporting Whole Exome Sequencing as a First-Tier Test
Sign Up to like & getrecommendations! Published in 2021 at "Genes"
DOI: 10.3390/genes12040560
Abstract: Autism spectrum disorder (ASD) is a prevalent and extremely heterogeneous neurodevelopmental disorder (NDD) with a strong genetic component. In recent years, the clinical relevance of de novo mutations to the aetiology of ASD has been… read more here.
Keywords: exome sequencing; first tier; tier test; evidence ... See more keywords