Elizabeth Blue

TL;DR: This collaborative effort has identified 956 genes, including 375 not previously associated with human health, that underlie a Mendelian phenotype, providing insight into study design and analytical strategies, identify novel mechanisms of disease, and reveal the extensive clinical variability of Mendelia phenotypes.

TL;DR: Rare loss-of-function variants in RTEL1 represent a newly defined genetic predisposition for FIP, supporting the importance of telomere-related pathways in pulmonary fibrosis.

TL;DR: Exome-sequencing data show that primary defects in regulators of epithelial cell adhesion are the most significant contributors to NS-CL/P identified to date and that inherited and de novo single gene variants explain a substantial proportion of NS- CL/P.

TL;DR: Four strong candidate genes for ASD are identified, all of which have been previously implicated in other studies, or have a strong biological argument for their relevance.

TL;DR: To identify rare causal variants underlying known loci that segregate with late‐onset Alzheimer's disease (LOAD) in multiplex families in severalx families, a genome-wide association study is conducted.