Simon Sadedin

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 · 399 citations · Full text

Mendelian Disorder, Genetic Disorder, Whole-exome Sequencing +12

Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort

Stefanie Eggers, Simon Sadedin, Jocelyn A. van den Bergen et al. · Genome biology · 2016 · 382 citations · Full text

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 · 318 citations

Bpipe: a tool for running and managing bioinformatics pipelines

Simon Sadedin, Bernard J. Pope, Alicia Oshlack · Bioinformatics · 2012 · 181 citations

STRetch: detecting and discovering pathogenic short tandem repeat expansions

Harriet Dashnow, Monkol Lek, Belinda Phipson et al. · Genome biology · 2018 · 175 citations · Full text