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

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.

Journal: The lancet. Diabetes & endocrinology

Publication Year: 2020

Authors & Co-authors:  Groeneweg Stefan S Peeters Robin P RP Moran Carla C Stoupa Athanasia A Auriol Françoise F Tonduti Davide D Dica Alice A Paone Laura L Rozenkova Klara K Malikova Jana J

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

A mixed-methods assessment of sexual and gender-based violence in eastern Democratic Republic of Congo to inform national and international strategy implementation.

Journal: The International journal of health planning and management

Publication Year: 2014

Authors & Co-authors:  Scott Polak Kisielewski McGraw-Gross Johnson Hendrickson Lawry

Minimal information for studies of extracellular vesicles 2018 (MISEV2018): a position statement of the International Society for Extracellular Vesicles and update of the MISEV2014 guidelines.

Journal: Journal of extracellular vesicles

Publication Year: 

Authors & Co-authors:  Théry Witwer Aikawa Alcaraz Anderson Andriantsitohaina Antoniou Arab Archer Atkin-Smith

Methylome-wide and meQTL analysis helps to distinguish treatment response from non-response and pathogenesis markers in schizophrenia.

Journal: Frontiers in psychiatry

Publication Year: 

Authors & Co-authors:  Polakkattil Vellichirammal Nair Nair Banerjee