May Alrashed

TL;DR: In this paper, a large cohort of nearly 150 retinal dystrophy (RD) families was used to identify the likely causative genetic lesion in the majority of cases and revealed six novel candidate disease genes (C21orf2, EMC1, KIAA1549, GPR125, ACBD5, and DTHD1) in the context of syndromic forms of RD that are described for the first time.

TL;DR: This study conducts a comprehensive analysis of all 14 BBS genes as well as the CCDC28B-modifier gene in a cohort of 29 BBS families and argues in favor of straightforward autosomal recessive BBS in most cases.

TL;DR: In this article, rare predicted loss-of-function (pLOF) variants across 13 candidate genes in TLR3- and IRF7-dependent type I IFN pathways explain up to 3.5% of severe COVID-19 cases.

TL;DR: A genome-wide association study meta-analysis of up to 125,584 cases and over 2.5 million control individuals across 60 studies from 25 countries reveals compelling insights regarding disease susceptibility and severity.

TL;DR: In this article, the advances in molecular profiling and immunophenotyping of meningiomas, which may lead to the development of new personalized therapeutic strategies, are discussed, as well as new targeted drug treatments.