… After having mapped a de novo balanced t(2;7)(p14;q21.11) translocation, in a CHARGE
patient, interrupting the SEMA3E gene located in 7q21, Lalani 79 reported a de novo missense …

Array-based whole genome investigation or molecular karyotyping enables the genome-wide
detection of submicroscopic imbalances. Proof-of-principle experiments have …

Background Benign hereditary chorea (BHC) is a rare autosomal dominant disorder characterised
by childhood onset that tends to improve in adulthood. The associated gene, NKX2-1 (…

Obesity has become a major worldwide challenge to public health, owing to an interaction
between the Western ‘obesogenic’ environment and a strong genetic contribution 1 . Recent …

The underlying causes of learning disability and dysmorphic features in many patients remain
unidentified despite extensive investigation. Routine karyotype analysis is not sensitive …

… We identified two patients with a SHANK2 de novo deletion (Table 2). For patient AUL_001,
the breakpoints were previously sequenced using whole genome sequencing [31] (Table 2, …

Both obesity and being underweight have been associated with increased mortality 1 , 2 .
Underweight, defined as a body mass index (BMI) ≤ 18.5 kg per m 2 in adults and ≤ −2 …

… The deleted region was contained within the ≤109-kb de novo … Six more inherited or de
novo missense mutations were then … In addition to the detection of de novo mutations, our data …

Human interleukin (IL) 1 receptor–associated kinase 4 (IRAK-4) deficiency is a recently
discovered primary immunodeficiency that impairs Toll/IL-1R immunity, except for the Toll-like …

Background: Autism spectrum disorders (ASD) refer to a broader group of neurobiological
conditions, pervasive developmental disorders. They are characterised by a symptomatic triad …