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Children with Down's syndrome (DS) have 20-50-fold higher incidence of all leukaemias (lymphoid and myeloid), for reasons not understood. As incidence of many solid tumours is much lower in DS, we speculated that disturbed early haematopoietic differentiation could be the cause of increased leukaemia risk. If a common mechanism is behind the risk of both(More)
Intellectual disability (ID) is a clinically and genetically heterogeneous disorder, affecting 1–3% of the general population. Although research into the genetic causes of ID has recently gained momentum, identification of pathogenic mutations that cause autosomal recessive ID (ARID) has lagged behind, predominantly due to non-availability of sizeable(More)
In recent years whole-exome sequencing has been developed , a technique by which all exons of the genome (all the protein-coding DNA) can be sequenced at once. Here we show that whole-exome sequencing, using either 35 or 50 Mb Agilent kits for exome capture, was insufficient to detect pathogenic DYNC2H1 variants in patients with Jeune asphyxiating thoracic(More)
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