Gorlin-Chaudhry-Moss syndrome (GCMS) is a dysmorphic syndrome characterized by
coronal craniosynostosis and severe midface hypoplasia, body and facial hypertrichosis, …

Many monogenic disorders cause a characteristic facial morphology. Artificial intelligence can
support physicians in recognizing these patterns by associating facial phenotypes with the …

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 genetics. It …

Less than half of patients with suspected genetic disease receive a molecular diagnosis. We
have therefore integrated next-generation sequencing (NGS), bioinformatics, and clinical …

Purpose Phenotype information is crucial for the interpretation of genomic variants. So far it
has only been accessible for bioinformatics workflows after encoding into clinical terms by …

Mutations in CREBBP cause Rubinstein–Taybi syndrome. By using exome sequencing, and
by using Sanger in one patient, CREBBP mutations were detected in 11 patients who did …

Notch signaling is an established developmental pathway for brain morphogenesis. Given
that Delta-like 1 (DLL1) is a ligand for the Notch receptor and that a few individuals with …

MutationDistiller is a freely available online tool for user-driven analyses of Whole Exome
Sequencing data. It offers a user-friendly interface aimed at clinicians and researchers, who …

NALCN is a conserved cation channel, which conducts a permanent sodium leak current
and regulates resting membrane potential and neuronal excitability. It is part of a large ion …

Purpose Haploinsufficiency of USP7, located at chromosome 16p13.2, has recently been
reported in seven individuals with neurodevelopmental phenotypes, including developmental …