Authors: Arleen D Auerbach; John Burn; Jean-Jacques Cassiman; Mireille Claustres; Richard G H Cotton; Garry Cutting; Johan T den Dunnen; Mona El-Ruby; Aida Falcon Vargas; Marc S Greenblatt; Finlay Macrae; Yoichi Matsubara; David L Rimoin; Mauno Vihinen; Christine Van Broeckhoven Journal: Nat Rev Genet Date: 2011-10-25 Impact factor: 53.242