Reclassification of variants of uncertain significance in neonatal genetic diseases: implications from a clinician’s perspective
Yang L, Liu X, Li Z, Zhang P, Wu B, Wang H, et al. Genetic aetiology of early…
Genetic susceptibility to schizophrenia through neuroinflammatory pathways associated with retinal thinness
Base data from the 2022 schizophrenia genome-wide association study The summary statistics base dataset was derived from the…
Hemizygous SMARCA1 variants cause X-linked intellectual disability
Schwartz CE, Louie RJ, Toutain A, Skinner C, Friez MJ, Stevenson RE. X-Linked intellectual disability update 2022. Am…
GJA8-associated developmental eye disorders: a new multicentre study highlights mutational hotspots and genotype-phenotype correlations
Here, we report variants affecting GJA8 in 22 individuals from 15 new families, including 11 missense variants predicted…
Association between plausible genetic factors and weight loss from GLP1-RA and bariatric surgery
Ethics statement This study complies with all relevant ethical regulations and was conducted in accordance with the research…
Genome-wide analyses identify 25 infertility loci and relationships with reproductive traits across the allele frequency spectrum
Genome-wide meta-analyses identify new loci for infertility We identified female infertility of all causes (F-ALL), anatomical causes (F-ANAT),…
Common-variant and rare-variant genetic architecture of heart failure across the allele-frequency spectrum
Ziaeian, B. & Fonarow, G. C. Epidemiology and aetiology of heart failure. Nat. Rev. Cardiol. 13, 368–378 (2016).…