Historically, the term “artificial intelligence” dates to 1956 when it was first used in a
conference at Dartmouth College in the US. Since then, the development of artificial …

Pediatric developmental syndromes present with systemic, complex, and often overlapping
clinical features that are not infrequently a consequence of Mendelian inheritance of …

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 …

Importance Children with medical complexity (CMC) represent a growing population in the
pediatric health care system, with high resource use and associated health care costs. A …

Truncating variants in exons 33 and 34 of the SNF2-related CREBBP activator protein
(SRCAP) gene cause the neurodevelopmental disorder (NDD) Floating-Harbor syndrome …

Chromodomain helicase DNA-binding protein 7 (CHD7), an ATP-dependent eukaryotic
chromatin remodeling enzyme, is essential for the development of organs. The mutation of …

The highly homologous protein lysine methyltransferases G9a and GLP, which catalyze
mono-and dimethylation of histone H3 lysine 9 (H3K9), have been implicated in various …

Weaver syndrome (WS), an overgrowth/intellectual disability syndrome (OGID), is caused by
pathogenic variants in the histone methyltransferase EZH2, which encodes a core …

Mosaic genetic variants can have major clinical impact. We systematically analyse trio
exome sequence data from 4,293 probands from the DDD Study with severe developmental …

The complexity of the human brain emerges from a long and finely tuned developmental
process orchestrated by the crosstalk between genome and environment. Vis à vis other …