Turner syndrome (TS) is a condition in females missing the second sex chromosome (45, X)
or parts thereof. It is considered a rare genetic condition and is associated with a wide range …

Although first identified over 70 years ago, Klinefelter syndrome (KS) continues to pose
substantial diagnostic challenges, as many patients are still misdiagnosed, or remain …

Patients with mental disorders show many biological abnormalities which distinguish them
from normal volunteers; however, few of these have led to tests with clinical utility. Several …

Background: Whole-genome sequencing (WGS) in asymptomatic adults might prevent
disease but increase health care use without clinical value. Objective: To describe the effect …

Abstract The American College of Medical Genetics and Genomics recently issued
recommendations for reporting incidental findings from clinical whole-genome sequencing …

Background Knowledge on the prevalence of sex chromosome abnormalities (SCAs) is
limited, and delayed diagnosis or non-diagnosis of SCAs are a continuous concern. We …

Iron is an essential element for biological processes. Iron homeostasis is regulated through
several mechanisms, from absorption by enterocytes to recycling by macrophages and …

Background Marfan syndrome is a genetic disorder with considerable morbidity and
mortality. Presently, clinicians use the 2010 revised Ghent nosology, which includes optional …

Recent emphasis on translational research (TR) is highlighting the role of epidemiology in
translating scientific discoveries into population health impact. The authors present …

There is increasing pressure for neuroscientists to communicate their research and the
societal implications of their findings to the public. Communicating science is challenging …