Review of estimates of birth incidence and population prevalence over time and between countries of the rare neurodevelopmental condition Prader-Willi syndrome ...
Background Penetrance of breast cancer (BC) among women who carry pathogenic variants (PVs) in BRCA1 is incomplete, and the age at BC diagnosis varies considerably, even among carriers of the same PV, ...
Background Bartter syndrome (BS) is a salt-losing renal tubulopathy classically characterised by hypokalaemic metabolic alkalosis and hyperreninaemic hyperaldosteronism. Methods We investigated the ...
Background Our study aimed to establish ‘real-world’ performance and cost-effectiveness of ovarian cancer (OC) surveillance in women with pathogenic germline BRCA1/2 variants who defer risk-reducing ...
Background 17q12 microdeletion and microduplication syndromes present as overlapping, multisystem disorders. We assessed the disease phenotypes of individuals with 17q12 CNV in a population-based ...
Background Identifying genetic disease-susceptible individuals through population screening is considered as a promising approach for disease prevention. DNA mismatch repair (MMR) genes including MLH1 ...
Background GGC repeat expansion in NOTCH2NLC has been recently linked to neuronal intranuclear inclusion disease (NIID) via unknown disease mechanisms. Herein, we explore the genetic origin of the ...
2 The State Key Laboratory of Optometry, Ophthalmology and Vision Science, Wenzhou, China Background Myopia is the leading cause of refractive errors. As its pathogenesis is poorly understood, we ...
Background Variants in the type IV collagen gene ( COL4A1/2 ) cause early-onset cerebrovascular diseases. Most individuals are diagnosed postnatally, and the prenatal features of individuals with ...
Data-driven modelling of mutational hotspots and in silico predictors in hypertrophic cardiomyopathy
Background Although rare missense variants in Mendelian disease genes often cluster in specific regions of proteins, it is unclear how to consider this when evaluating the pathogenicity of a gene or ...
9 Tel Aviv University Sackler Faculty of Medicine, Tel Aviv, Israel 10 Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel Background Constitutional mismatch repair deficiency syndrome ...
Background Spasmolytic polypeptide-expressing metaplasia (SPEM) is present in more than 90% of resected gastric cancer tissues. However, although widely regarded as a pre-cancerous tissue, its genetic ...
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