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

Journal: Nature communications

Publication date: 2025

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

Daytime sleepiness and emotional and behavioral disturbances in Prader-Willi syndrome.

Journal: European journal of pediatrics

Publication date: 2022

Journal: European journal of pediatrics

Publication Year: 2022

Authors & Co-authors:  Choong Catherine S CS Nixon Gillian M GM Blackmore A Marie AM Chen Wai W Jacoby Peter P Leonard Helen H Lafferty Antony R AR Ambler Geoff G Kapur Nitin N Bergman Philip B PB