Weizhen Ji

TL;DR: A method for whole-exome sequencing coupling Roche/NimbleGen whole exome arrays to the Illumina DNA sequencing platform is reported, demonstrating the ability to capture approximately 95% of the targeted coding sequences with high sensitivity and specificity for detection of homozygous and heterozygous variants.

TL;DR: An inherited KCNJ5 mutation that produces increased Na+ conductance in a Mendelian form of severe aldosteronism and massive bilateral adrenal hyperplasia is identified, explaining pathogenesis in a subset of patients with severe hypertension and implicate loss of K+ channel selectivity in constitutive cell proliferation and hormone production.

TL;DR: Using comparative genomics, genetics and biochemistry, subjects with mutations proven or inferred to be functional are identified, and many rare alleles that alter renal salt handling in blood pressure variation in the general population are implicate.

TL;DR: Using exome sequencing, it is inferred that loss of DGKE function results in a prothrombotic state, identifying a new mechanism of pathologic thrombosis and kidney failure and have immediate implications for treating individuals with aHUS.

TL;DR: PARN and RTEL1 genes explain ∼7% of familial pulmonary fibrosis and strengthen the link between lung Fibrosis and telomere dysfunction.