Nature Search

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

Loss-of-function variants in thyroid hormone transporter MCT8 cause a neurodevelopmental and metabolic disorder. Here the authors identify genotype-phenotype relationships, advance insights in MCT8 (dys)function and create a pathogenicity-severity variant classifier.

Stefan Groeneweg
Ferdy S. van Geest
W. Edward Visser
ResearchOpen Access12 Mar 2025
Nature Communications

Volume: 16, P: 1-21
KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features

Anna L Gloyn
Catherine Diatloff-Zito
Jean Jacques Robert
Research03 May 2006
European Journal of Human Genetics

Volume: 14, P: 824-830
Dynamic developmental signatures of facial expression processing differ by emotion

Using magnetoencephalography, this study reveals developmental specialization of face perception networks for happy, angry, and neutral faces, highlighting distinct functional roles of alpha/beta and gamma oscillations during implicit emotional face processing.

Hua Bai
Jake J. Son
Tony W. Wilson
ResearchOpen Access30 Sept 2025
Communications Biology

Volume: 8, P: 1-12
Interplay between preclinical indices of obesity and neural signatures of fluid intelligence in youth

Standardized indices of obesity are associated with alterations in neural oscillatory activity and functional connectivity in brain regions supporting abstract reasoning and fluid intelligence in typically developing youth.

Thomas W. Ward
Mikki Schantell
Tony W. Wilson
ResearchOpen Access09 Oct 2024
Communications Biology

Volume: 7, P: 1-12

Quick links

Search

Filter By:

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

KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features

Dynamic developmental signatures of facial expression processing differ by emotion

Interplay between preclinical indices of obesity and neural signatures of fluid intelligence in youth

Search

Quick links