Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders
LJ Ewans, D Schofield, R Shrestha, Y Zhu… - Genetics in …, 2018 - nature.com
Purpose Whole-exome sequencing (WES) has revolutionized Mendelian diagnostics,
however, there is no consensus on the timing of data review in undiagnosed individuals and …
however, there is no consensus on the timing of data review in undiagnosed individuals and …
[HTML][HTML] Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis
LJ Ewans, AE Minoche, D Schofield… - European Journal of …, 2022 - nature.com
Whole genome sequencing (WGS) improves Mendelian disorder diagnosis over whole
exome sequencing (WES); however, additional diagnostic yields and costs remain …
exome sequencing (WES); however, additional diagnostic yields and costs remain …
Pathogenic variants in PLOD3 result in a Stickler syndrome-like connective tissue disorder with vascular complications
LJ Ewans, A Colley, C Gaston-Massuet… - Journal of medical …, 2019 - jmg.bmj.com
Background Pathogenic PLOD3 variants cause a connective tissue disorder (CTD) that has
been described rarely. We further characterise this CTD and propose a clinical diagnostic …
been described rarely. We further characterise this CTD and propose a clinical diagnostic …
Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy
PJ Taylor, S Maroulis, GL Mullan… - Journal of medical …, 2007 - jmg.bmj.com
Background: Recent methodological advances have improved the detection rate for
dystrophin mutations, but there are no published studies that have measured the clinical …
dystrophin mutations, but there are no published studies that have measured the clinical …
P014 Nutrition Knowledge, Attitudes, Beliefs, and Practices among Adults in Urban and Rural Areas in the Free State, South Africa
W Najam, C Walsh, W Oldewage-Theron - Journal of Nutrition Education …, 2022 - jneb.org
Background Designing comprehensive nutrition education programs requires
understanding nutrition-related knowledge, attitudes, beliefs, and practices (NKABP) of …
understanding nutrition-related knowledge, attitudes, beliefs, and practices (NKABP) of …
Development of a prenatal quantitative fluorescent-PCR chromosome 15 aneuploidy screen
MA Galea, CC Walsh, M Caramins - Pathology, 2010 - Elsevier
The QF-PCR prenatal screen for aneuploidies of chromosomes 13, 18, 21, X and Y is
currently available as an alternative to short-term karyotyping. However, this substitution …
currently available as an alternative to short-term karyotyping. However, this substitution …
[CITATION][C] A Successful Application of Next Generation Sequencing to the Diagnosis of Adaptive Primary Immunodeficiency
PE Gray, C Walsh, Y Zhu… - INTERNAL …, 2014 - … ST, HOBOKEN 07030-5774, NJ USA
[CITATION][C] MENDELIAN ERRORS ASSIST IN CALLING COPY NUMBER VARIATION FROM GENOMIC SEQUENCING DATA: AN ILLUSTRATIVE CASE OF …
P Gray, M Buckley, J Ziegler… - INTERNAL …, 2015 - … ST, HOBOKEN 07030-5774, NJ USA