Mutations affecting ciliary components cause ciliopathies. As described here, we investigated
Tectonic1 (Tctn1), a regulator of mouse Hedgehog signaling, and found that it is essential …

KIF7, the human ortholog of Drosophila Costal2, is a key component of the Hedgehog
signaling pathway. Here we report mutations in KIF7 in individuals with hydrolethalus and …

Bicuspid aortic valve (BAV) is a common congenital heart defect (population incidence, 1–2%)
1 , 2 – 3 that frequently presents with ascending aortic aneurysm (AscAA) 4 . BAV/AscAA …

Methods| After receiving an institutional review board and informed consent waiver at
Partners Healthcare because this was a secondary analysis of publicly available, deidentified, …

Study objective We describe the current US emergency physician workforce. Methods We
analyzed the 2020 American Medical Association Physician Masterfile data set. All physicians …

BACKGROUND: Operating rooms are identified as being one of the noisiest of clinical
environments, and intraoperative noise is associated with adverse effects on staff and patient …

To examine changes in US medical school basic science faculty over the last 20 years (1998–2018),
we undertook an observational study utilizing data from the American Association …

Background The purpose of this study was to complete a comprehensive analysis of gender
differences in faculty rank among US emergency physicians that reflected all academic …

Objective: Using a custom mobile application to evaluate the reliability and validity of the
Component Timed-Up-and-Go test to assess prosthetic mobility in people with lower limb …

Background Current standard audible medical alarms are difficult to learn and distinguish
from one another. Auditory icons represent a new type of alarm that has been shown to be …