Biallelic SH2B3 germline variants are associated with a neonatal myeloproliferative disease and multisystemic involvement
We here describe the clinical features of a cohort of 10 patients with germline SH2B3 variants. In our…
A novel heterozygous pathogenic variant in HEY2 led to a familial form of non-syndromic Tetralogy of Fallot
van der Linde D, Konings EEM, Slager MA, Witsenburg M, Helbing WA, Takkenberg JJM, et al. Birth prevalence…
Computational modelling of the semi-classical quantum vacuum in 3D
Theory QED in vacuum can be approximated by the HE Lagrangian67,68, as expressed below in Gaussian units: $${{{\mathcal{L}}}}=\frac{1}{8{{{\rm{\pi…
Oceanic drivers of UK summer droughts
Spraggs, G., Peaver, L., Jones, P. & Ede, P. Re-construction of historic drought in the Anglian Region (UK)…
Inherited mitochondrial genetics as a predictor of immune checkpoint inhibition efficacy in melanoma
MT-HGs are associated with efficacy in NIVO-treated patients In this study, we tested whether MT-HGs, as inherited genetic…
Experimentally probing Landauer’s principle in the quantum many-body regime
Information theory and thermodynamics constitute foundational pillars of modern technology and underpin our understanding of computers and heat…
Le Mans preview and Ferrari’s F1 woes
The Monaco GP, Indianapolis 500 and Le Mans 24 Hours. It’s that ridiculous time of year when the…
A general rule on the organization of biodiversity in Earth’s biogeographical regions
Delineation of biogeographical regions We obtained the species distributions of amphibians, dragonflies, mammals, rays and reptiles from the…
Genomics of host–microbiome interactions in humans
Valdes, A. M., Walter, J., Segal, E. & Spector, T. D. Role of the gut microbiota in nutrition…
Shotgun sequencing of airborne eDNA achieves rapid assessment of whole biomes, population genetics and genomic variation
Permitting The analysis of human-derived eDNA from field obtained samples and human-related sampling was conducted with University of…