Joy Yaplito‐Lee

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

Successful Treatment of Molybdenum Cofactor Deficiency Type A With cPMP

Alex Veldman, José Angel Santamaria‐Araujo, Silvio Sollazzo et al. · PEDIATRICS · 2010 · 200 citations

Life Sciences, Neurology, Pharmacotherapy +14

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

Bridget Wilcken, Marion Haas, Pamela Joy et al. · PEDIATRICS · 2009 · 165 citations

Public Health, Child Health, Pediatrics +17

Phenotype and genotype in 101 males with X-linked creatine transporter deficiency

Jiddeke M. van de Kamp, Ofir T. Betsalel, Saadet Mercimek‐Mahmutoglu et al. · Journal of Medical Genetics · 2013 · 165 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

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 · 138 citations

Life Sciences, Genetics, Molecular Genetics +17