Roelineke J. Lunsing

Effectiveness and safety of the tri-iodothyronine analogue Triac in children and adults with MCT8 deficiency: an international, single-arm, open-label, phase 2 trial

Stefan Groeneweg, Robin P. Peeters, Carla Moran et al. · The Lancet Diabetes & Endocrinology · 2019 · 122 citations · Full text

Iodine Deficiency Disorders, Pharmacology, Mct8 Deficiency +3

Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study

Stefan Groeneweg, Ferdy S. van Geest, Ayhan Abacı et al. · The Lancet Diabetes & Endocrinology · 2020 · 107 citations

Disease Characteristics, Disease Mechanism, Genetic Disorder +10

<i>NUBPL</i> mutations in patients with complex I deficiency and a distinct MRI pattern

Sietske H. Kevelam, Richard J. Rodenburg, Nicole I. Wolf et al. · Neurology · 2013 · 84 citations · Full text

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis

Heather E. Olson, Nolwenn Jean‐Marçais, Edward Yang et al. · The American Journal of Human Genetics · 2018 · 76 citations · Full text

Developmental Anomaly, Facial Dysmorphism, Developmental Biology +9

Novel pathogenic mechanism suggested by ex vivo analysis of MCT8 (SLC16A2) mutations

W. Edward Visser, Jurgen Jansen, Edith C. H. Friesema et al. · Human Mutation · 2008 · 74 citations · Full text

Molecular Biology, Pathology, Gene Characterization +20