Heidi Peters

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

A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency

Barbara K. Burton, Manisha Balwani, François Feillet et al. · New England Journal of Medicine · 2015 · 238 citations · Full text

Expanded Newborn Screening: Outcome in Screened and Unscreened Patients at Age 6 Years

Bridget Wilcken, Marion Haas, Pamela Joy et al. · PEDIATRICS · 2009 · 164 citations

ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism

Heidi Peters, Nicole E. Buck, Ronald J. A. Wanders et al. · Brain · 2014 · 136 citations

Fatal Leigh Disease, Genetics, Molecular Biology +18