Neena L. Champaigne

Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria

Jennifer L. Sloan, Jennifer J. Johnston, Irini Manoli et al. · Nature Genetics · 2011 · 108 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8

CERT1 mutations perturb human development by disrupting sphingolipid homeostasis

Charlotte Gehin, Museer A. Lone, Winston Lee et al. · Journal of Clinical Investigation · 2023 · 42 citations · Full text

Life Sciences, Genetics, Molecular Biology +15

A recurrent de novo missense pathogenic variant in SMARCB1 causes severe intellectual disability and choroid plexus hyperplasia with resultant hydrocephalus

Illja J. Diets, Trine Prescott, Neena L. Champaigne et al. · Genetics in Medicine · 2018 · 35 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Primary Carnitine Deficiency Presents Atypically with Long QT Syndrome: A Case Report

Irene De Biase, Neena L. Champaigne, Richard J. Schroer et al. · JIMD Reports · 2011 · 33 citations

Medicine, Cardiology, Pediatrics +17

The epilepsy phenotypic spectrum associated with a recurrent <i>CUX2</i> variant

Nicolas Chatron, Rikke S. Møller, Neena L. Champaigne et al. · Annals of Neurology · 2018 · 28 citations · Full text

Medicine, Genetics, Molecular Genetics +17