Background: Prader-Willi Syndrome (PWS) is a neurodevelopmental genomic imprinting
disorder with lack of expression of genes inherited from the paternal chromosome 15q11 …

During the last quarter of the twentieth century, our knowledge about human genetic
variation was limited mainly to the heterochromatin polymorphisms, large enough to be …

Analysis of de novo CNVs (dnCNVs) from the full Simons Simplex Collection (SSC)(N=
2,591 families) replicates prior findings of strong association with autism spectrum disorders …

De novo mutation plays an important role in autism spectrum disorders (ASDs). Notably,
pathogenic copy number variants (CNVs) are characterized by high mutation rates. We …

Prader-Willi syndrome is characterized by severe infantile hypotonia with poor suck and
failure to thrive; hypogonadism causing genital hypoplasia and pubertal insufficiency; …

The diagnosis of Prader-Willi syndrome (PWS) is based on clinical findings that change with
age. Hypotonia is prominent in infancy. Obesity, mild mental retardation or learning …

Prader–Willi syndrome (PWS) is a highly variable genetic disorder affecting multiple body
systems whose most consistent major manifestations include hypotonia with poor suck and …

Structural variants (SVs) are an important source of human genome diversity, but their
functional effects are poorly understood. We mapped 61,668 SVs in 613 individuals from the …

Prader–Willi syndrome (PWS) and Angelman syndrome (AS) are two distinct neurogenetic
disorders in which imprinted genes on the proximal long arm of chromosome 15 are …

Background. Prader-Willi syndrome (PWS) is a complex, multisystem disorder. Its major
clinical features include neonatal hypotonia, developmental delay, short stature, behavioral …