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The Journal of Clinical Investigation|July 19, 2016
Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung diseaseSaskia N van der Crabben, Marije P Hennus, Grant A McGregor, et al.Genome Research|April 18, 2015
Characteristics of de novo structural changes in the human genomeWigard P Kloosterman, Laurent C Francioli, Fereydoun Hormozdiari, et al.Nature Genetics|May 22, 2012
Dominant missense mutations in ABCC9 cause Cantú syndromeMagdalena Harakalova, Jeske J T van Harssel, Paulien A Terhal, et al.Nature Genetics|November 15, 2016
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomaliesClaire Redin, Harrison Brand, Ryan L Collins, et al.Pageof 3