相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。Mechanisms underlying structural variant formation in genomic disorders
Claudia M. B. Carvalho et al.
NATURE REVIEWS GENETICS (2016)
Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome
Bo Yuan et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2015)
Insertion of an extra copy of Xq22.2 into 1p36 results in functional duplication of the PLP1 gene in a girl with classical Pelizaeus-Merzbacher disease
Julien Masliah-Planchon et al.
BMC MEDICAL GENETICS (2015)
Unbalanced translocations arise from diverse mutational mechanisms including chromothripsis
Brooke Weckselblatt et al.
GENOME RESEARCH (2015)
Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3
Shen Gu et al.
HUMAN MOLECULAR GENETICS (2015)
Translesion Polymerases Drive Microhomology-Mediated Break-Induced Replication Leading to Complex Chromosomal Rearrangements
Cynthia J. Sakofsky et al.
MOLECULAR CELL (2015)
Chromothripsis from DNA damage in micronuclei
Cheng-Zhong Zhang et al.
NATURE (2015)
Mechanism of microhomology-mediated end-joining promoted by human DNA polymerase θ
Tatiana Kent et al.
NATURE STRUCTURAL & MOLECULAR BIOLOGY (2015)
Mus81 and converging forks limit the mutagenicity of replication fork breakage
Ryan Mayle et al.
SCIENCE (2015)
Mechanism of microhomology-mediated end-joining promoted by human DNA polymerase θ
Tatiana Kent et al.
NATURE STRUCTURAL & MOLECULAR BIOLOGY (2015)
Complex Genomic Rearrangements at the PLP1 Locus Include Triplication and Quadruplication
Christine R. Beck et al.
PLOS GENETICS (2015)
Human endogenous retroviral elements promote genome instability via non-allelic homologous recombination
Ian M. Campbell et al.
BMC BIOLOGY (2014)
Non-homologous end joining often uses microhomology: Implications for alternative end joining
Nicholas R. Pannunzio et al.
DNA REPAIR (2014)
Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing
Joanna Wiszniewska et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2014)
Constitutional chromoanasynthesis: description of a rare chromosomal event in a patient
Julie Plaisancie et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2014)
Complex genomic rearrangements in the dystrophin gene due to replication-based mechanisms
Berivan Baskin et al.
MOLECULAR GENETICS & GENOMIC MEDICINE (2014)
Chromothripsis in congenital disorders and cancer: similarities and differences
Wigard P. Kloosterman et al.
CURRENT OPINION IN CELL BIOLOGY (2013)
Chromothripsis and beyond: rapid genome evolution from complex chromosomal rearrangements
Cheng-Zhong Zhang et al.
GENES & DEVELOPMENT (2013)
Mechanisms for recurrent and complex human genomic rearrangements
Pengfei Liu et al.
CURRENT OPINION IN GENETICS & DEVELOPMENT (2012)
Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies
Beata A. Nowakowska et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2012)
DNA breaks and chromosome pulverization from errors in mitosis
Karen Crasta et al.
NATURE (2012)
Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration
Colby Chiang et al.
NATURE GENETICS (2012)
Chromoanagenesis and cancer: mechanisms and consequences of localized, complex chromosomal rearrangements
Andrew J. Holland et al.
NATURE MEDICINE (2012)
Constitutional Chromothripsis Rearrangements Involve Clustered Double-Stranded DNA Breaks and Nonhomologous Repair Mechanisms
Wigard P. Kloosterman et al.
CELL REPORTS (2012)
Massive Genomic Rearrangement Acquired in a Single Catastrophic Event during Cancer Development
Philip J. Stephens et al.
CELL (2011)
Chromosome Catastrophes Involve Replication Mechanisms Generating Complex Genomic Rearrangements
Pengfei Liu et al.
CELL (2011)
Recurrence, submicroscopic complexity, and potential clinical relevance of copy gains detected by array CGH that are shown to be unbalanced insertions by FISH
Nicholas J. Neill et al.
GENOME RESEARCH (2011)
Chromothripsis as a mechanism driving complex de novo structural rearrangements in the germline
Wigard P. Kloosterman et al.
HUMAN MOLECULAR GENETICS (2011)
Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome
Claudia M. B. Carvalho et al.
NATURE GENETICS (2011)
Insertional Translocation Detected Using FISH Confirmation of Array-Comparative Genomic Hybridization (aCGH) Results
Sung-Hae L. Kang et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2010)
Detection of Clinically Relevant Exonic Copy-Number Changes by Array CGH
Philip M. Boone et al.
HUMAN MUTATION (2010)
Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture
Lisenka E. L. M. Vissers et al.
HUMAN MOLECULAR GENETICS (2009)
Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching
Claudia M. B. Carvalho et al.
HUMAN MOLECULAR GENETICS (2009)
Complex human chromosomal and genomic rearrangements
Feng Zhang et al.
TRENDS IN GENETICS (2009)
A Microhomology-Mediated Break-Induced Replication Model for the Origin of Human Copy Number Variation
P. J. Hastings et al.
PLOS GENETICS (2009)
Branchiootorenal Syndrome and Oculoauriculovertebral Spectrum Features Associated With Duplication of SIX1, SIX6, and OTX2 Resulting From a Complex Chromosomal Rearrangement
Zhishuo On et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2008)
Bacterial artificial chromosome-emulation oligonucleotide arrays for targeted clinical array-comparative genomic hybridization analyses
Zhishuo Ou et al.
GENETICS IN MEDICINE (2008)
MMEJ repair of double-strand breaks (director's cut): deleted sequences and alternative endings
Mitch McVey et al.
TRENDS IN GENETICS (2008)
A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders
Jennifer A. Lee et al.
CELL (2007)
Mechanism and regulation of human non-homologous DNA end-joining
MR Lieber et al.
NATURE REVIEWS MOLECULAR CELL BIOLOGY (2003)
Genome architecture catalyzes nonrecurrent chromosomal rearrangements
P Stankiewicz et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2003)
Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and females
K Inoue et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2002)