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

Stefan Groeneweg(Erasmus University Rotterdam), Evelien Gevers(Queen Mary University of London), Paul Dimitri(University of Sheffield), Jan Fairchild(Women's and Children's Hospital), Mariano Martín(Consejo Nacional de Investigaciones Científicas y Técnicas), Linda J. de Rooij(Erasmus University Rotterdam), Cheyenne Dewey(MultiCare Health System), Christine M. Armour(University of Ottawa), Alexander Chesover(University of Toronto), Dana Craiu, Anna Dolcetta‐Capuzzo(Vita-Salute San Raffaele University), Rosalie Sterenborg(Radboud University Nijmegen), Jonathan Gallichan(Plymouth Hospital), Marco Cappa(Bambino Gesù Children's Hospital), Ferdy S. van Geest(Erasmus MC), Jet van der Spek(Radboud University Nijmegen), Patricia Crock(John Hunter Children's Hospital), Krishna Chatterjee(University of Cambridge), Anina Enderli(University Children's Hospital Zurich), Gerarda Cappuccio(Telethon Institute Of Genetics And Medicine), Rachana Dubey(Indo-US Super Speciality Hospital), Jonathan Frazer(Universitat Pompeu Fabra), Erica L T van den Akker(Erasmus MC - Sophia Children’s Hospital), Barbara Castellotti(Fondazione IRCCS Istituto Neurologico Carlo Besta), Mafalda Dias(Universitat Pompeu Fabra), Andrew J. Bauer(Children's Hospital of Philadelphia), Peter Christian(East Kent Hospitals University NHS Foundation Trust), Carolina Medina‐Gómez(Erasmus MC), Christian de Goede(Lancashire Teaching Hospitals NHS Foundation Trust), Enrico Bertini(Bambino Gesù Children's Hospital), Priyanka Bakhtiani(University of Louisville), Marjolein H. G. Dremmen(Erasmus MC), Hao Wang(University of California San Diego), Korcan Demir(Dokuz Eylül University), Diana Bârcă(Clinical Emergency Hospital Bucharest), Nicola Brunetti‐Pierri(Federico II University Hospital), Amanda van den Berge(Erasmus University Rotterdam), Sjoerd A.A. van den Berg(Erasmus MC), Belinda George(St.John's Medical College Hospital), Ayhan Abacı(Dokuz Eylül University), Luigi Garibaldi(Children's Hospital of Pittsburgh), Alexander Teumer(Medical University of Białystok), Claudia Castiglioni(King Saud bin Abdulaziz University for Health Sciences), I.F.M. de Coo(Maastricht University), R. Coutant(Centre Hospitalier Universitaire de Tours), Ingrid M. van Beynum(Erasmus MC - Sophia Children’s Hospital), I. Bacos, Gautam Ambegaonkar(Cambridge University Hospitals NHS Foundation Trust), Doris Brunner, Alice Dica(Spitalul Clinic de Psihiatrie Alexandru Obregia)
Nature Communications
March 12, 2025
Cited by 6


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