Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration.

Journal: Nature communications

Publication Year: 2025

Authors & Co-authors:  Groeneweg Stefan S van Geest Ferdy S FS Martín Mariano M Dias Mafalda M Frazer Jonathan J Medina-Gomez Carolina C Sterenborg Rosalie B T M RBTM Wang Hao H Dolcetta-Capuzzo Anna A de Rooij Linda J LJ

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

Journal: The lancet. Diabetes & endocrinology

Publication Year: 2020

Authors & Co-authors:  Groeneweg Stefan S van Geest Ferdy S FS Abacı Ayhan A Alcantud Alberto A Ambegaonkar Gautem P GP Armour Christine M CM Bakhtiani Priyanka P Barca Diana D Bertini Enrico S ES van Beynum Ingrid M IM

Long-Term Efficacy of T3 Analogue Triac in Children and Adults With MCT8 Deficiency: A Real-Life Retrospective Cohort Study.

Journal: The Journal of clinical endocrinology and metabolism

Publication Year: 2022

Authors & Co-authors:  van Geest Ferdy S FS Groeneweg Stefan S van den Akker Erica L T ELT Bacos Iuliu I Barca Diana D van den Berg Sjoerd A A SAA Bertini Enrico E Brunner Doris D Brunetti-Pierri Nicola N Cappa Marco M