Objective: To describe the genetic and phenotypic spectrum of Usher syndrome after 6 years
of studies by next-generation sequencing, and propose an up-to-date classification of Usher …

Permanent childhood sensorineural hearing loss, is one of the most common birth defects in
developed countries. It is important to identify the aetiology of hearing loss for many reasons …

Autosomal dominant nonsyndromic hearing loss (ADNSHL) is a common and often
progressive sensory deficit. ADNSHL displays a high degree of genetic heterogeneity and …

Hearing loss is the most common sensory deficit in humans. Untreated hearing loss will
affect speech and language development and lead to impaired cognitive and social skills …

Genetic contribution to progressive hearing loss in adults is underestimated. Established
machine learning-based software could offer a rapid supportive tool to stratify patients with …

Permanent childhood sensorineural hearing loss, is one of the most common birth defects in
developed countries. It is important to identify the aetiology of hearing loss for many reasons …

Background Recognized public health relevant risk factors such as obesity, physical
inactivity, smoking or air pollution are common to many non-communicable diseases …

Background Classification of diseases on the molecular level is the basis for personalized
medicine. Personalized medicine proposes to improve efficiency and quality of care, to …

Previous studies identified phenotypic differences in hearing loss that were dependent upon
the genotype for non-syndromic hearing loss [2, 78]. Using this observation, the goal was to …

Objective: In this study we aimed to evaluate the predictive cross-sectional sensitivity and
longitudinal concordance of a machine-learning algorithm in a series of genetically …