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Eija Hämäläinen

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#protein folding Open access Oct 2026

Rare coding variation implicates thirteen genes in bipolar disorder across 232,536 individuals from global populations

Bipolar disorder (BD) is highly heritable, yet the contribution of rare coding variation remains incompletely characterized. We analyzed sequencing data from 64,435 individuals with BD and 168,101 controls spanning multiple ancestries and 22 countries, representing the largest and most global sequencing resource with a...

C. Liao, R. Ye, J. Sealock et al. · 0 citations
Open access Jul 2026

INTS6 loss of function disrupts transcriptional regulation in mild intellectual disability

The discovery of a family with six affected members carrying a heterozygous loss- of-function variant in INTS6 highlights the critical role of INTS6 in transcriptional regulation of human neurodevelopment and reinforces its association with NDDs.

Nelli Jalkanen, K. Trontti, Antto J. Norppa et al. · 0 citations

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