Evidence for disease penetrance relating to CNV size: Pelizaeus-Merzbacher disease and manifesting carriers with a familial 11 Mb duplication at Xq22

PRPS1 Mutations: Four Distinct Syndromes and Potential Treatment

(2010) Arjan P.M. de Brouwer et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Comprehensive genetic analyses of PLP1 in patients with Pelizaeus–Merzbacher disease applied by array-CGH and fiber-FISH analyses identified new mutations and variable sizes of duplications

(2009) Keiko Shimojima et al.   BRAIN & DEVELOPMENT

Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching

(2009) Claudia M.B. Carvalho et al.   HUMAN MOLECULAR GENETICS

Classic Pelizaeus-Merzbacher disease in a girl with an unbalanced chromosomal translocation and functional duplication ofPLP1

(2009) Eppie M. Yiu et al.   MOVEMENT DISORDERS

Mechanisms of change in gene copy number

(2009) P. J. Hastings et al.   NATURE REVIEWS GENETICS

A Microhomology-Mediated Break-Induced Replication Model for the Origin of Human Copy Number Variation

(2009) P. J. Hastings et al.   PLoS Genetics