A rare syndromic form of intellectual disability with impaired speech was recently found
associated with mutations in CHAMP1 (chromosome alignment‐maintaining phosphoprotein 1), …

Waardenburg syndrome (WS) is an autosomal dominant disorder with an incidence of 1 in
40 000 that manifests with sensorineural deafness and pigmentation defects. It is classified …

Chromosome instability is a hallmark of tumorigenesis. This study establishes that
chromosome instability is also common during early human embryogenesis. A new array-based …

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 …

Multiple displacement amplification (MDA) is a recently described method of whole-genome
amplification (WGA) that has proven efficient in the amplification of small amounts of DNA, …

Hajdu-Cheney syndrome is a rare autosomal dominant skeletal disorder with facial anomalies,
osteoporosis and acro-osteolysis. We sequenced the exomes of six unrelated individuals …

Importance The 16p11.2 BP4-BP5 duplication is the copy number variant most frequently
associated with autism spectrum disorder (ASD), schizophrenia, and comorbidities such as …

Thirty patients have been described with cytogenetically visible deletion of the short arm of
chromosome 6. However, subtelomeric 6p deletion detected by subtelomeric specific probes …

Endosomal protein recycling is a fundamental cellular process important for cellular homeostasis,
signaling, and fate determination that is implicated in several diseases. WASH is an …

The four R-spondin secreted ligands (RSPO1–RSPO4) act via their cognate LGR4, LGR5
and LGR6 receptors to amplify WNT signalling 1 , 2 – 3 . Here we report an allelic series of …