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Objective Nephronophthisis is an autosomal recessive renal ciliopa-thy that constitutes the leading monogenic cause of end-stage renal disease in children. The KOUNCIL consortium is a collaboration between the UMC Utrecht, the Radboud UMC Nijmegen and UC London aimed at elucidating the genetic etiology and pathophysiological mechanisms underlying(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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