Human subtelomeric copy number gains suggest a DNA replication mechanism for formation: beyond breakage–fusion–bridge for telomere stabilization

Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries

(2012) Michael E. Talkowski et al.   CELL

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

Human telomeres replicate using chromosome-specific, rather than universal, replication programs

(2012) William C. Drosopoulos et al.   JOURNAL OF CELL BIOLOGY

Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration

(2012) Colby Chiang et al.   NATURE GENETICS

Chromosome Catastrophes Involve Replication Mechanisms Generating Complex Genomic Rearrangements

(2011) Pengfei Liu et al.   CELL

Alu-specific microhomology-mediated deletion of the final exon of SPAST in three unrelated subjects with hereditary spastic paraplegia

(2011) Philip M Boone et al.   GENETICS IN MEDICINE

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

Overcoming natural replication barriers: differential helicase requirements

(2011) Ranjith P. Anand et al.   NUCLEIC ACIDS RESEARCH

DNA Synthesis Generates Terminal Duplications That Seal End-to-End Chromosome Fusions

(2011) M. R. Lowden et al.   SCIENCE

Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome

(2011) Maria Clara Bonaglia et al.   PLoS Genetics

Mechanisms for Nonrecurrent Genomic Rearrangements Associated with CMT1A or HNPP: Rare CNVs as a Cause for Missing Heritability

(2010) Feng Zhang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

LINE-1 Retrotransposition Activity in Human Genomes

(2010) Christine R. Beck et al.   CELL

Retrotransposition and Structural Variation in the Human Genome

(2010) James R. Lupski   CELL

Mobile Interspersed Repeats Are Major Structural Variants in the Human Genome

(2010) Cheng Ran Lisa Huang et al.   CELL

Natural Mutagenesis of Human Genomes by Endogenous Retrotransposons

(2010) Rebecca C. Iskow et al.   CELL

Deletion or triplication of the α3(VI) collagen gene in three patients with 2q37 chromosome aberrations and symptoms of collagen-related disorders

(2010) A. Rauch et al.   CLINICAL GENETICS

High-throughput sequencing reveals extensive variation in human-specific L1 content in individual human genomes

(2010) A. D. Ewing et al.   GENOME RESEARCH

Phenotypic Consequences of Copy Number Variation: Insights from Smith-Magenis and Potocki-Lupski Syndrome Mouse Models

(2010) Guénola Ricard et al.   PLOS BIOLOGY

Inverted duplications deletions: underdiagnosed rearrangements??

(2009) O Zuffardi et al.   CLINICAL GENETICS

Differential arrival of leading and lagging strand DNA polymerases at fission yeast telomeres

(2009) Bettina A Moser et al.   EMBO JOURNAL

Further delineation of nonhomologous-based recombination and evidence for subtelomeric segmental duplications in 1p36 rearrangements

(2009) Carla S. D’Angelo et al.   HUMAN GENETICS

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

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

Microarray-Based Comparative Genomic Hybridization Using Sex-Matched Reference DNA Provides Greater Sensitivity for Detection of Sex Chromosome Imbalances than Array-Comparative Genomic Hybridization with Sex-Mismatched Reference DNA

(2009) Svetlana A. Yatsenko et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

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

(2009) Feng Zhang et al.   NATURE GENETICS

Mechanisms of change in gene copy number

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

Complex human chromosomal and genomic rearrangements

(2009) Feng Zhang et al.   TRENDS IN GENETICS

Genomic disorders ten years on

(2009) James R Lupski   Genome Medicine

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

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

Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: A study of 5,380 cases

(2008) Lina Shao et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A 400kb duplication, 2.4Mb triplication and 130kbduplication of 9q34.3 in a patient with severe mental retardation

(2008) Antoinet C.J. Gijsbers et al.   European Journal of Medical Genetics