The Genomics England Research Consortium

Genetic susceptibility to earlier ovarian ageing increases de novo mutation rate in offspring

M. Hurles, M. Weedon, K. Ong, 2022, medRxiv.

Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration

Karin, A. Need, M. Kayikci, 2022, medRxiv.