Susan M. White

Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases

Michelle M. Clark, Zornitza Stark, Lauge Farnaes et al. · npj Genomic Medicine · 2018 · 640 citations · Full text

Life Sciences, Genetics, Pediatrics +17

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

Microsatellite instability and the role of hMSH2 in sporadic colorectalcancer.

Bubb Vj, LJ Curtis, C Cunningham et al. · PubMed · 1996 · 248 citations

Medicine, Genetics, Oncology +13

Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia

Esther Meyer, Keren Carss, Julia Rankin et al. · Nature Genetics · 2016 · 245 citations · Full text

Life Sciences, Genetics, Molecular Biology +10