Ivan Macciocca

A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders

Zornitza Stark, Tiong Yang Tan, Belinda Chong et al. · Genetics in Medicine · 2016 · 411 citations · Full text

Life Sciences, Genetics, Pediatrics +16

Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions

Tiong Yang Tan, Oliver James Dillon, Zornitza Stark et al. · JAMA Pediatrics · 2017 · 327 citations

Life Sciences, Genetics, Pediatrics +17

Prospective comparison of the cost-effectiveness of clinical whole-exome sequencing with that of usual care overwhelmingly supports early use and reimbursement

Zornitza Stark, Deborah Schofield, Khurshid Alam et al. · Genetics in Medicine · 2017 · 241 citations · Full text

Life Sciences, Genetics, Pharmacoeconomics +13

Clinical predictors of genetic testing outcomes in hypertrophic cardiomyopathy

Jodie Ingles, Tanya Sarina, Laura Yeates et al. · Genetics in Medicine · 2013 · 134 citations · Full text

Medicine, Cardiology, Genetics +12

Cpipe: a shared variant detection pipeline designed for diagnostic settings

Simon Sadedin, Harriet Dashnow, Paul A. James et al. · Genome Medicine · 2015 · 114 citations · Full text

Life Sciences, Bioinformatics, Genetics +14