Nonsense-mediated mRNA decay (NMD) is of universal biological significance 1 , 2 , 3 . It
has emerged as an important global RNA, DNA and translation regulatory pathway 4 . By …

Large-scale systematic resequencing has been proposed as the key future strategy for the
discovery of rare, disease-causing sequence variants across the spectrum of human complex …

Most patients with rare diseases do not receive a molecular diagnosis and the aetiological
variants and causative genes for more than half such disorders remain to be discovered 1 . …

Autism is a common neurodevelopmental disorder with a complex mode of inheritance. It is
one of the most highly heritable of the complex disorders, although the underlying genetic …

The neurotrophin brain-derived neurotrophic factor (BDNF) inhibits food intake, and rodent
models of BDNF disruption all exhibit increased food intake and obesity, as well as …

Individuals born of consanguineous union have segments of their genomes that are
homozygous as a result of inheriting identical ancestral genomic segments through both parents. …

We report the identification of six patients with 3q29 microdeletion syndrome. The clinical
phenotype is variable despite an almost identical deletion size. The phenotype includes mild-to…

Linkage analysis and DNA sequencing in a family exhibiting an X-linked mental retardation (XLMR)
syndrome, characterized by microcephaly, epilepsy, ataxia, and absent speech and …

Submicroscopic copy-number imbalances contribute significantly to the genetic etiology of
human disease. Here, we report a novel microduplication hot spot at Xp11.22 identified in six …

We have identified three truncating, two splice-site, and three missense variants at
conserved amino acids in the CUL4B gene on Xq24 in 8 of 250 families with X-linked mental …