Zhong Ren

TL;DR: Interestingly, mutations predominantly in the N-terminal motor domain of KIF5A are causative for two neurodegenerative diseases: hereditary spastic paraplegia and Charcot-Marie-Tooth type 2.

TL;DR: Exome sequencing in a combined cohort of more than 3000 patients with chronic kidney disease yielded a genetic diagnosis in just under 10% of cases, with genetic findings for medically actionable disorders that would also lead to subspecialty referral and inform renal management.

TL;DR: Analysis of WES data in a prospective cohort of unselected fetuses with structural anomalies shows the value added by WES following the use of routine genetic tests, and suggests that, in cases of fetal anomalies in which assessment with karyotype testing and chromosome microarray fail to determine the underlying cause of a structural anomaly, WES can add clinically relevant information that could assist current management of a pregnancy.

TL;DR: Excess ultra-rare variation in known epilepsy genes is identified, which establishes a clear connection between the genetics of common and rare, severe epilepsies, and shows that the variants responsible for epilepsy risk are exceptionally rare in the general population.

TL;DR: The idea that telomere dysfunction is involved in IPF pathogenesis is supported, as whole‐exome sequencing data identified TERT, RTEL1, and PARN—three telomeres‐related genes previously implicated in familial pulmonary fibrosis—as significant contributors to sporadic IPF.