The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans

Replication Stress Induces Genome-wide Copy Number Changes in Human Cells that Resemble Polymorphic and Pathogenic Variants

(2009) Martin F. Arlt et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

Increased LIS1 expression affects human and mouse brain development

(2009) Weimin Bi et al.   NATURE GENETICS

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

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

The Fine-Scale and Complex Architecture of Human Copy-Number Variation

(2008) George H. Perry et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The clinical spectrum associated with a chromosome 17 short arm proximal duplication (dup 17p11.2) in three patients

(2008) Martine Doco-Fenzy et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mapping and sequencing of structural variation from eight human genomes

(2008) Jeffrey M. Kidd et al.   NATURE

Segmental Duplications Arise from Pol32-Dependent Repair of Broken Forks through Two Alternative Replication-Based Mechanisms

(2008) Celia Payen et al.   PLoS Genetics