Does genomic sequencing early in the diagnostic trajectory make a difference? A follow-up study of clinical outcomes and cost-effectiveness

Use of Exome Sequencing for Infants in Intensive Care Units

Linyan Meng, Mohan Pammi, Anirudh Saronwala et al. · JAMA Pediatrics · 2017 · 431 citations · Full text

Medicine, Genetics, Pediatrics +14

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

Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings

Laurel K. Willig, Josh E Petrikin, Laurie D. Smith et al. · The Lancet Respiratory Medicine · 2015 · 406 citations · Full text

Life Sciences, Genetics, Pediatrics +15

Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders

Caroline F. Wright, Jeremy F. McRae, Stephen Clayton et al. · Genetics in Medicine · 2018 · 341 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Systematic reanalysis of clinical exome data yields additional diagnoses: implications for providers

Aaron M. Wenger, Harendra Guturu, Jonathan A. Bernstein et al. · Genetics in Medicine · 2016 · 329 citations · Full text

Medicine, Bioinformatics, Biomedical Informatics +6