Intellectual disability (ID) can be caused by non-genetic and genetic factors, the latter being
responsible for more than 1700 ID-related disorders. The broad ID phenotypic and genetic …

Accurate diagnosis is the cornerstone of medicine; it is essential for informed care and
promoting patient and family well-being. However, families with a rare genetic disease …

Disclaimer: This statement is designed primarily as an educational resource for medical
geneticists and other clinicians to help them provide quality medical services. Adherence to …

Individuals with ultrarare disorders pose a structural challenge for healthcare systems since
expert clinical knowledge is required to establish diagnoses. In TRANSLATE NAMSE, a 3 …

Following the diagnosis of a paediatric disorder caused by an apparently de novo mutation,
a recurrence risk of 1–2% is frequently quoted due to the possibility of parental germline …

Objective About 3% of newborns show malformations, with about 20% of the affected having
genetic causes. Clarification of genetic diseases in postnatal diagnostics was significantly …

VarFish is a user-friendly web application for the quality control, filtering, prioritization,
analysis, and user-based annotation of DNA variant data with a focus on rare disease …

This review summarizes our current knowledge of human disease-relevant genetic variants
within the family of voltage gated Ca2+ channels. Ca2+ channelopathies cover a wide …

Purpose The goal of this study was to assess the scale of low-level parental mosaicism in
exome sequencing (ES) databases. Methods We analyzed approximately 2000 family trio …

Advanced paternal age is associated with an increased risk of fathering children with
genetic disorders and other adverse reproductive consequences. However, the mechanisms …