Results 1 to 10 of about 904 (85)

A Novel Approach to Interrogating Whole Genome Sequencing Data to Optimise Clinical Utility. [PDF]

Mol Genet Genomic Med
Pre‐classification variant selection and reanalysis of undiagnosed cases are critical to optimise the quality improvement in the clinical delivery of whole genome sequencing in rare disease. Variant selection via virtual panels can expedite interpretation but may miss clinically relevant findings, leaving cases undiagnosed for rare disease.
Sonner S, McKenna C, Heggarty S, Hamill C, Flanagan C, McKee S, Kerr K, Alhazzaa R, McKnight AJ, Mone F.   +9 more
europepmc   +2 more sources

Diagnostic Yield of Sequencing for Prenatal Diagnosis of Fetal Structural Anomalies: An Updated Systematic Review. [PDF]

Prenat Diagn
ABSTRACT The clinical utility of sequencing in prenatal diagnosis is known, but diagnostic yield varies widely depending on clinical indication. Here we update an earlier systematic review reporting the diagnostic yield of prenatal sequencing in structurally abnormal fetuses, with particular focus on factors affecting diagnostic yield.
Lim KMX, Gibbs A, Scotchman E, Smith G, Chitty LS, Chandler NJ.   +5 more
europepmc   +2 more sources

Performance of international phenotypic criteria for prenatal exome sequencing: systematic review and comparative diagnostic accuracy study using historical individual participant data. [PDF]

Ultrasound Obstet Gynecol
ABSTRACT Objectives To evaluate: (i) the performance of the National Health Service (NHS) phenotypic eligibility criteria for prenatal exome sequencing (pES); (ii) the diagnostic yield of individual NHS criteria; (iii) the diagnostic yield when one or multiple NHS criteria were met; and (iv) the performance of the NHS criteria compared with that of ...
Reilly K, Rolnik DL, Allen S, Sotiriadis A, Ong S, Sonner S, Blayney GV, Fernando M, Van Mieghem T, Borrell A, Langlois S, Mone F, Collaborators.   +12 more
europepmc   +2 more sources

Incremental yield of exome sequencing over standard prenatal testing in structurally normal fetuses: systematic review and meta-analysis. [PDF]

Ultrasound Obstet Gynecol
ABSTRACT Objective To critically review the literature and synthesize evidence on the incremental yield of prenatal exome sequencing (PES) in fetuses with an apparently normal phenotype with a normal G‐banded karyotype or chromosomal microarray (CMA).
Sotiriadis A, Demertzidou E, Ververi A, Tsakmaki E, Chatzakis C, Mone F.   +5 more
europepmc   +2 more sources

DECLINE OR DEVELOPMENT OF THE ATM SERVICES AND THEIR SOCIAL ACCEPTABILITY [PDF]

Zeszyty Naukowe Wyższej Szkoły Finansów i Prawa w Bielsku-Białej, 2016
The paper is focused on the still growing market of ATM devices and presents the growth of this market against the background of rapidly developing risks associated with electronic banking services. The paper also lists changes related to the progress in
Jacek Binda
doaj   +15 more sources

Monogenic conditions and central nervous system anomalies: A prospective study, systematic review and meta-analysis. [PDF]

Prenat Diagn
Abstract Objectives Determine the incremental diagnostic yield of prenatal exome sequencing (pES) over chromosome microarray (CMA) or G‐banding karyotype in fetuses with central nervous system (CNS) abnormalities. Methods Data were collected via electronic searches from January 2010 to April 2022 in MEDLINE, Cochrane, Web of Science and EMBASE. The NHS
Blayney GV, Laffan E, Jacob PA, Baptiste CD, Gabriel H, Sparks TN, Yaron Y, Norton ME, Diderich K, Wang Y, Chong K, Chitayat D, Saini N, Aggarwal S, Pauta M, Borrell A, Gilmore K, Chandler NJ, Allen S, Vora N, Noor A, Monaghan C, Kilby MD, Wapner RJ, Chitty LS, Mone F.   +25 more
europepmc   +2 more sources

Implementation of Turkish Foreign Policies and Government Support as Driving Forces of Promoting International Students

Revista Portuguesa de Pedagogia, 2020
The aim of this study was to examine the effect of the implementation of Turkish foreign policies and the government support as the key drivers of promoting international students to study in Turkey.
Hamadi Fadhil Nguluma, Osman Titrek
doaj   +1 more source

Interventions to Improve the Economic Self‐sufficiency and Well‐being of Resettled Refugees: A Systematic Review

Campbell Systematic Reviews, 2015
This Campbell systematic review examines the effects of programmes on the economic self‐sufficiency and well‐being of resettled refugees. The review identified 23 relevant studies but none of these could be included in the analysis due weaknesses in ...
Eleanor Ott, Paul Montgomery
doaj   +1 more source

Serving More Than Food: Teachers' Perceptions of School Meals From a Socio‐Ecological Perspective

European Journal of Education, Volume 61, Issue 3, September 2026.
ABSTRACT This study examines Turkish teachers' perceptions of school meal provision, using a socio‐ecological perspective as a conceptual lens. Data were collected from 232 teachers, and exploratory factor analysis identified a six‐factor structure: school climate and student well‐being, food quality and hygiene, social equity and family support ...
Tuba Gokmenoglu, Ceyda Durmus
wiley   +1 more source

Body Region Dysmorphology Is Predictive of Genetic Diagnoses in Infants With Congenital Heart Disease

Molecular Genetics &Genomic Medicine, Volume 14, Issue 7, July 2026.
This work demonstrates how recognition of body region dysmorphology patterns improves prediction of genetic disorders causing congenital heart disease (CHD). Findings highlight possible abnormal developmental pathways underlying CHD types and craniofacial development.
Benjamin M. Helm, Leah Wetherill, Benjamin J. Landis, Stephanie M. Ware   +3 more
wiley   +1 more source