Maie Walsh

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

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

Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood

F.‐Nora Vögtle, Björn Brändl, Austin Larson et al. · The American Journal of Human Genetics · 2018 · 89 citations · Full text

Neurodegenerative Diseases, Mitochondrial Function, Biochemistry +9

Genotype and phenotype spectrum of NRAS germline variants

Franziska Altmüller, Débora Romeo Bertola, Elisabetta Flex et al. · European Journal of Human Genetics · 2017 · 54 citations · Full text

Allelic Variant, Medicine, Genetics +4

Diagnostic and cost utility of whole exome sequencing in peripheral neuropathy

Maie Walsh, Katrina M. Bell, Belinda Chong et al. · Annals of Clinical and Translational Neurology · 2017 · 43 citations · Full text