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Orphanet Journal of Rare Diseases|April 30, 2013
The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAPSarah M Nikkel, Andrew Dauber, Sonja de Munnik, et al.The Lancet. Diabetes & Endocrinology|June 20, 2020
Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort studyStefan Groeneweg, Ferdy S van Geest, Ayhan Abacı, et al.Nature Communications|March 13, 2025
Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integrationStefan Groeneweg, Ferdy S van Geest, Mariano Martín, et al.Pageof 6