Early population-based outcomes of infants born with congenital diaphragmatic hernia
AM Long, KJ Bunch, M Knight, JJ Kurinczuk… - Archives of Disease in …, 2018 - fn.bmj.com
Purpose This study aims to describe short-term outcomes of live-born infants with congenital
diaphragmatic hernia (CDH) and to identify prognostic factors associated with early …
diaphragmatic hernia (CDH) and to identify prognostic factors associated with early …
Detection of clinically relevant genetic variants in Chinese patients with nanophthalmos by trio-based whole-genome sequencing study
C Guo, Z Zhao, D Chen, S He, N Sun… - … & visual science, 2019 - iovs.arvojournals.org
Purpose: Nanophthalmos is a rare genetic disorder commonly characterized by a short axial
length (AL) and severe hyperopia. Mutations that have been identified through Mendelian …
length (AL) and severe hyperopia. Mutations that have been identified through Mendelian …
MVP: predicting pathogenicity of missense variants by deep learning
Accurate pathogenicity prediction of missense variants is critical to improve power in genetic
studies and accurate interpretation in clinical genetic testing. Here we describe a new …
studies and accurate interpretation in clinical genetic testing. Here we describe a new …
Elucidating the transactivation domain of the pleiotropic transcription factor Myrf
Myrf is a newly discovered membrane-bound transcription factor that plays an essential role
in as diverse organisms as human, worm, and slime mold. Myrf is generated as a type-II …
in as diverse organisms as human, worm, and slime mold. Myrf is generated as a type-II …
Spatiotemporal gene coexpression and regulation in mouse cardiomyocytes of early cardiac morphogenesis
Background Heart tube looping to form a 4‐chambered heart is a critical stage of embryonic
heart development, but the gene drivers and their regulatory targets have not been …
heart development, but the gene drivers and their regulatory targets have not been …