Clara D.M. van Karnebeek

Exome Sequencing and the Management of Neurometabolic Disorders

Maja Tarailo‐Graovac, Casper Shyr, Colin J.D. Ross et al. · New England Journal of Medicine · 2016 · 274 citations · Full text

Next‐generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients

Karlien L. M. Coene, Leo A. J. Kluijtmans, E. van der Heeft et al. · Journal of Inherited Metabolic Disease · 2018 · 199 citations · Full text

Metabolic Disorder, Metabolomic Profiling, Metabolic Syndrome +19

CLPB Mutations Cause 3-Methylglutaconic Aciduria, Progressive Brain Atrophy, Intellectual Disability, Congenital Neutropenia, Cataracts, Movement Disorder

Saskia B. Wortmann, Szymon Ziętkiewicz, Maria Kousi et al. · The American Journal of Human Genetics · 2015 · 135 citations · Full text

Genetic Disorder, Genetics, Progressive Brain Atrophy +7

Mitochondrial Carbonic Anhydrase VA Deficiency Resulting from CA5A Alterations Presents with Hyperammonemia in Early Childhood

Clara D.M. van Karnebeek, William S. Sly, Colin J.D. Ross et al. · The American Journal of Human Genetics · 2014 · 104 citations

Human germline heterozygous gain-of-function <i>STAT6</i> variants cause severe allergic disease

Mehul Sharma, Daniel Leung, Mana Momenilandi et al. · The Journal of Experimental Medicine · 2023 · 99 citations · Full text