Tandem Repeats and G-Rich Sequences Are Enriched at Human CNV Breakpoints

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

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

LINE-1 Elements in Structural Variation and Disease

(2011) Christine R. Beck et al.   Annual Review of Genomics and Human Genetics

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities

(2011) Erin B. Kaminsky et al.   GENETICS IN MEDICINE

Analysis of a breakpoint cluster reveals insight into the mechanism of intrachromosomal amplification in a lymphoid malignancy

(2011) Paul B. Sinclair et al.   HUMAN MOLECULAR GENETICS

Diverse mutational mechanisms cause pathogenic subtelomeric rearrangements

(2011) Yue Luo et al.   HUMAN MOLECULAR GENETICS

A copy number variation morbidity map of developmental delay

(2011) Gregory M Cooper et al.   NATURE GENETICS

DNA secondary structures and epigenetic determinants of cancer genome evolution

(2011) Subhajyoti De et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

MochiView: versatile software for genome browsing and DNA motif analysis

(2010) Oliver R Homann et al.   BMC BIOLOGY

Mutation spectrum revealed by breakpoint sequencing of human germline CNVs

(2010) Donald F Conrad et al.   NATURE GENETICS

Alternative end-joining is suppressed by the canonical NHEJ component Xrcc4–ligase IV during chromosomal translocation formation

(2010) Deniz Simsek et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Population Analysis of Large Copy Number Variants and Hotspots of Human Genetic Disease

(2009) Andy Itsara et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Molecular mechanisms for subtelomeric rearrangements associated with the 9q34.3 microdeletion syndrome

(2009) Svetlana A. Yatsenko et al.   HUMAN MOLECULAR GENETICS

Segmental duplications mediate novel, clinically relevant chromosome rearrangements

(2009) M. Katharine Rudd et al.   HUMAN MOLECULAR GENETICS

Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture

(2009) Lisenka E.L.M. Vissers et al.   HUMAN MOLECULAR GENETICS

Large-Scale Expansions of Friedreich's Ataxia GAA Repeats in Yeast

(2009) Alexander A. Shishkin et al.   MOLECULAR CELL

The Yeast Pif1 Helicase Prevents Genomic Instability Caused by G-Quadruplex-Forming CEB1 Sequences In Vivo

(2009) Cyril Ribeyre et al.   PLoS Genetics

Mutagenic Capacity of Endogenous G4 DNA Underlies Genome Instability in FANCJ-Defective C. elegans

(2008) Evelien Kruisselbrink et al.   CURRENT BIOLOGY

Unexpected complexity at breakpoint junctions in phenotypically normal individuals and mechanisms involved in generating balanced translocations t(1;22)(p36;q13)

(2008) M. Gajecka et al.   GENOME RESEARCH