Syndromic genetic conditions, in aggregate, affect 8% of the population 1 . Many syndromes
have recognizable facial features 2 that are highly informative to clinical geneticists 3 , 4 – 5 …

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

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 …

Background Glycosylphosphatidylinositol biosynthesis defects (GPIBDs) cause a group of
phenotypically overlapping recessive syndromes with intellectual disability, for which …

Many rare syndromes can be well described and delineated from other disorders by a
combination of characteristic symptoms. These phenotypic features are best documented with …

Significant improvements in automated image analysis have been achieved in recent years
and tools are now increasingly being used in computer‐assisted syndromology. However, …

Facial analysis technologies have recently measured up to the capabilities of expert clinicians
in syndrome identification. To date, these technologies could only identify phenotypes of a …

Purpose Rothmund-Thomson syndrome (RTS) is characterized by poikiloderma, sparse hair,
small stature, skeletal defects, cancer, and cataracts, resembling features of premature …

CSNK2B encodes for casein kinase II subunit beta (CK2β), the regulatory subunit of casein
kinase II (CK2), which is known to mediate diverse cellular pathways. Variants in this gene …

The current study examined the association between changes in intolerance of uncertainty (IU)
and treatment outcomes for anxious youth. Participants were youth ages 7 to 17 who …