Axel Schmidt

TL;DR: It is shown that patients can be matched to others with the same molecular diagnosis even when the disorder was not included in the training set, accelerating the clinical diagnosis of patients with ultra-rare disorders and facial dysmorphism and aiding discovery of new disease genes.

TL;DR: In this article, the case of a 3.5-year-old girl with an unusually severe presentation of coronavirus disease (COVID-19) was described, which had been treated using prednisolone and methotrexate, and her parents were half cousins of Turkish descent.

TL;DR: In this paper, two unrelated individuals with similar clinical features and deleterious de novo variants in FBXO11 detected by whole exome sequencing (WES) studies were presented.

TL;DR: An extended GWAS meta-analysis of a well-characterized cohort of COVID-19 patients with respiratory failure and population controls from Italy, Spain, Norway and Germany/Austria, including stratified analyses based on age, sex and disease severity, as well as targeted analyses of chromosome Y haplotypes, the human leukocyte antigen (HLA) region and the SARS-CoV-2 peptidome is described.

TL;DR: It is observed that carrying a rare deleterious variant in the SARS-CoV-2 sensor toll-like receptor TLR7 was associated with a 5.3-fold increase in severe disease, which further supportTLR7 as a genetic determinant of severe disease and suggest that larger studies on rare variants influencing COVID-19 outcomes could provide additional insights.