The Electronic Health Record as Practice-Improvement Coach.
Sign Up to like & getrecommendations! Published in 2018 at "JAMA internal medicine"
DOI: 10.1001/jamainternmed.2017.7536
Abstract: Invited Commentary The Electronic Health Record as Practice-Improvement Coach Unnecessary diagnostic imaging is a prevalent form of medical overuse, and leads to unnecessary invasive procedures, radiation exposure, emotional stress, and nosocomial infection. Research has focused… read more here.
Keywords: health record; diagnostic yield; electronic health; yield ... See more keywords
Molecular Diagnostic Yield of Exome Sequencing and Chromosomal Microarray in Cerebral Palsy: A Systematic Review and Meta-analysis.
Sign Up to like & getrecommendations! Published in 2022 at "JAMA neurology"
DOI: 10.1001/jamaneurol.2022.3549
Abstract: Importance There are many known acquired risk factors for cerebral palsy (CP), but in some cases, CP is evident without risk factors (cryptogenic CP). Early CP cohort studies report a wide range of diagnostic yields… read more here.
Keywords: yield; diagnostic yield; cma; meta analysis ... See more keywords
Diagnostic Yield of Exome Sequencing in Cerebral Palsy and Implications for Genetic Testing Guidelines: A Systematic Review and Meta-analysis.
Sign Up to like & getrecommendations! Published in 2023 at "JAMA pediatrics"
DOI: 10.1001/jamapediatrics.2023.0008
Abstract: Importance Exome sequencing is a first-tier diagnostic test for individuals with neurodevelopmental disorders, including intellectual disability/developmental delay and autism spectrum disorder; however, this recommendation does not include cerebral palsy. Objective To evaluate if the diagnostic… read more here.
Keywords: meta analysis; diagnostic yield; exome sequencing; yield ... See more keywords
Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders
Sign Up to like & getrecommendations! Published in 2017 at "JAMA Psychiatry"
DOI: 10.1001/jamapsychiatry.2016.3798
Abstract: Importance Autosomal recessive inherited neurodevelopmental disorders are highly heterogeneous, and many, possibly most, of the disease genes are still unknown. Objectives To promote the identification of disease genes through confirmation of previously described genes and… read more here.
Keywords: exome sequencing; 152 consanguineous; diagnostic yield; consanguineous families ... See more keywords
Small volume biopsy diagnostic yield at initial diagnosis versus recurrence/transformation of follicular lymphoma: A retrospective Cyto‐Heme Interinstitutional Collaborative study
Sign Up to like & getrecommendations! Published in 2022 at "Cancer Cytopathology"
DOI: 10.1002/cncy.22676
Abstract: Few studies have evaluated diagnostic yield of small volume biopsies (SVB) for the diagnosis and management of follicular lymphoma (FL). read more here.
Keywords: diagnostic yield; diagnosis; follicular lymphoma; small volume ... See more keywords
Endoscopic ultrasound guided fine‐needle aspiration: What variables influence diagnostic yield?
Sign Up to like & getrecommendations! Published in 2018 at "Diagnostic Cytopathology"
DOI: 10.1002/dc.23883
Abstract: Endoscopic ultrasound (EUS) guided fine‐needle aspiration (FNA) plays an important role in the diagnosis of various lesions. We sought to determine factors that influence the diagnostic yield of EUS–FNA, specifically, the presence of a cytopathologist,… read more here.
Keywords: guided fine; influence diagnostic; needle aspiration; fine needle ... See more keywords
Genome sequencing in congenital cataracts improves diagnostic yield
Sign Up to like & getrecommendations! Published in 2021 at "Human Mutation"
DOI: 10.1002/humu.24240
Abstract: Congenital cataracts are one of the major causes of childhood‐onset blindness around the world. Genetic diagnosis provides benefits through avoidance of unnecessary tests, surveillance of extraocular features, and genetic family information. In this study, we… read more here.
Keywords: genome sequencing; diagnostic yield; congenital cataracts; sequencing congenital ... See more keywords
Diagnostic yield of genome sequencing for fetal structural anomalies.
Sign Up to like & getrecommendations! Published in 2022 at "Prenatal diagnosis"
DOI: 10.1002/pd.6108
Abstract: OBJECTIVE Genome sequencing (GS >30x) is beginning to be adopted as a comprehensive genome-wide test for the diagnosis of rare disease in the post-natal setting. Recent studies demonstrated the utility of exome sequencing (ES) in… read more here.
Keywords: diagnosis; genome sequencing; diagnostic yield; structural anomalies ... See more keywords
Diagnostic yield of exome sequencing for prenatal diagnosis of fetal structural anomalies: A systematic review and meta‐analysis
Sign Up to like & getrecommendations! Published in 2022 at "Prenatal Diagnosis"
DOI: 10.1002/pd.6115
Abstract: We conducted a systematic review and meta‐analysis to determine the diagnostic yield of exome sequencing (ES) for prenatal diagnosis of fetal structural anomalies, where karyotype/chromosomal microarray (CMA) is normal. read more here.
Keywords: review meta; meta analysis; diagnosis; systematic review ... See more keywords
Diagnostic yield of whole exome data in fetuses aborted for conotruncal malformations
Sign Up to like & getrecommendations! Published in 2022 at "Prenatal Diagnosis"
DOI: 10.1002/pd.6147
Abstract: We investigated a custom congenital heart disease (CHD) geneset to assess the diagnostic value of whole‐exome sequencing (WES) in karyotype‐ and copy number variation (CNV)‐negative aborted fetuses with conotruncal defects (CTDs), and to explore the… read more here.
Keywords: yield whole; whole exome; diagnostic yield; exome data ... See more keywords
Diagnostic yield of exome sequencing in isolated fetal growth restriction: Systematic review and meta‐analysis
Sign Up to like & getrecommendations! Published in 2023 at "Prenatal Diagnosis"
DOI: 10.1002/pd.6339
Abstract: The aim of this study was to determine the diagnostic yield of exome sequencing (ES) above that of chromosomal microarray analysis (CMA) or karyotyping in fetuses with isolated fetal growth restriction (FGR). This was a… read more here.
Keywords: yield exome; diagnostic yield; exome sequencing; yield ... See more keywords