Mammalian genomes are organized into megabase-scale topologically associated domains
(TADs). We demonstrate that disruption of TADs can rewire long-range regulatory …

Background The genetic cause of intellectual disability in most patients is unclear because
of the absence of morphological clues, information about the position of such genes, and …

There are many thousands of hereditary diseases in humans, each of which has a specific
combination of phenotypic features, but computational analysis of phenotypic data has been …

The identification of genes associated with hereditary disorders has contributed to improving
medical care and to a better understanding of gene functions, interactions, and pathways …

The differential diagnostic process attempts to identify candidate diseases that best explain
a set of clinical features. This process can be complicated by the fact that the features can …

Remodeling of the cytoskeleton is central to the modulation of cell shape and migration.
Filamin A, encoded by the gene FLNA, is a widely expressed protein that regulates re …

Hyperphosphatasia mental retardation (HPMR) syndrome is an autosomal recessive form of
mental retardation with distinct facial features and elevated serum alkaline phosphatase. We …

We identified 266 individuals with intragenic NSD1 mutations or 5q35 microdeletions
encompassing NSD1 (referred to as" NSD1-positive individuals"), through analyses of 530 …

Thrombocytopenia–absent radius (TAR) syndrome is characterized by hypomegakaryocytic
thrombocytopenia and bilateral radial aplasia in the presence of both thumbs. Other frequent …

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