Penny C. Sparkes

TL;DR: This genetic atlas provides evidence linking associated SNPs to causal genes, offers new insight into osteoporosis pathophysiology, and highlights opportunities for drug development.

TL;DR: The results implicate GPC6 as a novel determinant of BMD, and also identify abnormal skeletal phenotypes in knockout mice associated with a further 100 prioritized genes.

TL;DR: This comprehensive human and murine genetic atlas provides empirical evidence testing how to link associated SNPs to causal genes, offers new insights into osteoporosis pathophysiology and highlights opportunities for drug development.

TL;DR: In this paper , the authors developed a machine learning image analysis pipeline to characterise and compare the cellular phenotypes generated by transmission-blocking molecules during male gametogenesis, using this approach, they studied 40 molecules, categorising their activity based upon timing of action and visual effects on the organisation of tubulin and DNA within the cell.

TL;DR: The authors identified novel genes and pathways required for early eye development through systematic forward screening of the mammalian genome, and used the International Mouse Phenotyping Consortium (IMPC) database (data release 17.0, August 01, 2022) to identify 74 unique knockout lines (genes) with genetically associated eye defects in mouse embryos.