Complex Genomic Rearrangements at the PLP1 Locus Include Triplication and Quadruplication

The Alu-Rich Genomic Architecture of SPAST Predisposes to Diverse and Functionally Distinct Disease-Associated CNV Alleles

(2014) Philip M. Boone et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mechanism, Prevalence, and More Severe Neuropathy Phenotype of the Charcot-Marie-Tooth Type 1A Triplication

(2014) Pengfei Liu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Large Inverted Duplications in the Human Genome Form via a Fold-Back Mechanism

(2014) Karen E. Hermetz et al.   PLoS Genetics

NAHR-mediated copy-number variants in a clinical population: Mechanistic insights into both genomic disorders and Mendelizing traits

(2013) P. Dittwald et al.   GENOME RESEARCH

Increased genome instability in human DNA segments with self-chains: homology-induced structural variations via replicative mechanisms

(2013) Weichen Zhou et al.   HUMAN MOLECULAR GENETICS

Dissecting the Structure and Mechanism of a Complex Duplication-Triplication Rearrangement in theDMDGene

(2013) Aliya Ishmukhametova et al.   HUMAN MUTATION

Pif1 helicase and Polδ promote recombination-coupled DNA synthesis via bubble migration

(2013) Marenda A. Wilson et al.   NATURE

Migrating bubble during break-induced replication drives conservative DNA synthesis

(2013) Natalie Saini et al.   NATURE

Replicative mechanisms for CNV formation are error prone

(2013) Claudia M B Carvalho et al.   NATURE GENETICS

Genome-Wide Screen Reveals Replication Pathway for Quasi-Palindrome Fragility Dependent on Homologous Recombination

(2013) Yu Zhang et al.   PLoS Genetics

Low-copy repeats at the human VIPR2 gene predispose to recurrent and nonrecurrent rearrangements

(2012) Silvana Beri et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Pelizaeus-Merzbacher disease caused by a duplication-inverted triplication-duplication in chromosomal segments including the PLP1 region

(2012) Keiko Shimojima et al.   European Journal of Medical Genetics

Remarkably High Rate of DNA Amplification Promoted by the Mating-Type Switching Mechanism in Schizosaccharomyces pombe

(2012) C. Yu et al.   GENETICS

Inverted Low-Copy Repeats and Genome Instability-A Genome-Wide Analysis

(2012) Piotr Dittwald et al.   HUMAN MUTATION

Recombination-restarted replication makes inverted chromosome fusions at inverted repeats

(2012) Ken’Ichi Mizuno et al.   NATURE

Frequency of Nonallelic Homologous Recombination Is Correlated with Length of Homology: Evidence that Ectopic Synapsis Precedes Ectopic Crossing-Over

(2011) Pengfei Liu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome

(2011) Claudia M B Carvalho et al.   NATURE GENETICS

Gene amplification system based on double rolling-circle replication as a model for oncogene-type amplification

(2011) Takaaki Watanabe et al.   NUCLEIC ACIDS RESEARCH

Break-Induced Replication Is Highly Inaccurate

(2011) Angela Deem et al.   PLOS BIOLOGY

A Human Genome Structural Variation Sequencing Resource Reveals Insights into Mutational Mechanisms

(2010) Jeffrey M. Kidd et al.   CELL

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

Diversity of Human Copy Number Variation and Multicopy Genes

(2010) Peter H. Sudmant et al.   SCIENCE

Gene Amplification and Adaptive Evolution in Bacteria

(2009) Dan I. Andersson et al.   Annual Review of Genetics

Isodicentric Y Chromosomes and Sex Disorders as Byproducts of Homologous Recombination that Maintains Palindromes

(2009) Julian Lange et al.   CELL

Nearby inverted repeats fuse to generate acentric and dicentric palindromic chromosomes by a replication template exchange mechanism

(2009) K. Mizuno et al.   GENES & DEVELOPMENT

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

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

Mapping and sequencing of structural variation from eight human genomes

(2008) Jeffrey M. Kidd et al.   NATURE