Human subtelomeric copy number gains suggest a DNA replication mechanism for formation: beyond breakage–fusion–bridge for telomere stabilization
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Ankita Patel | J. Lupski | S. Cheung | C. Schaaf | R. Fisher | S. Yatsenko | P. Hixson | D. Scott | Y. Ng | Erin K. Roney | R. Palmer | Yu‐tze Ng
[1] Nobuhiko Okamoto,et al. Pelizaeus-Merzbacher disease caused by a duplication-inverted triplication-duplication in chromosomal segments including the PLP1 region. , 2012, European journal of medical genetics.
[2] J. Lupski,et al. Constitutional tandem duplication of 9q34 that truncates EHMT1 in a child with ganglioglioma , 2012, Pediatric blood & cancer.
[3] Toshiro K. Ohsumi,et al. Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries , 2012, Cell.
[4] C. Schildkraut,et al. Human telomeres replicate using chromosome-specific, rather than universal, replication programs , 2012, The Journal of cell biology.
[5] Ira M. Hall,et al. Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration , 2012, Nature Genetics.
[6] R. Anand,et al. Overcoming natural replication barriers: differential helicase requirements , 2011, Nucleic acids research.
[7] J. Lupski,et al. Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome , 2011, Nature Genetics.
[8] P. Stankiewicz,et al. Chromosome Catastrophes Involve Replication Mechanisms Generating Complex Genomic Rearrangements , 2011, Cell.
[9] M. Fichera,et al. Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome , 2011, PLoS genetics.
[10] J. Lupski,et al. Alu-specific microhomology-mediated deletion of the final exon of SPAST in three unrelated subjects with hereditary spastic paraplegia , 2011, Genetics in Medicine.
[11] D. Moerman,et al. DNA Synthesis Generates Terminal Duplications That Seal End-to-End Chromosome Fusions , 2011, Science.
[12] Juan I. Young,et al. Phenotypic Consequences of Copy Number Variation: Insights from Smith-Magenis and Potocki-Lupski Syndrome Mouse Models , 2010, PLoS biology.
[13] H. Kazazian,et al. High-throughput sequencing reveals extensive variation in human-specific L1 content in individual human genomes. , 2010, Genome research.
[14] D. Valle,et al. Mobile Interspersed Repeats Are Major Structural Variants in the Human Genome , 2010, Cell.
[15] J. Lupski,et al. Retrotransposition and Structural Variation in the Human Genome , 2010, Cell.
[16] Andrew F. Neuwald,et al. Natural Mutagenesis of Human Genomes by Endogenous Retrotransposons , 2010, Cell.
[17] Evan E. Eichler,et al. LINE-1 Retrotransposition Activity in Human Genomes , 2010, Cell.
[18] J. Lupski,et al. Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability. , 2010, American journal of human genetics.
[19] J. Lupski,et al. Mechanisms of change in gene copy number , 2009, Nature Reviews Genetics.
[20] J. Lupski,et al. Complex human chromosomal and genomic rearrangements. , 2009, Trends in genetics : TIG.
[21] J. Lupski,et al. The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans , 2009, Nature Genetics.
[22] P. Stankiewicz,et al. Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching. , 2009, Human molecular genetics.
[23] A. C. Chinault,et al. Molecular mechanisms for subtelomeric rearrangements associated with the 9q34.3 microdeletion syndrome. , 2009, Human molecular genetics.
[24] R. Giorda,et al. Inverted duplications deletions: underdiagnosed rearrangements?? , 2009, Clinical genetics.
[25] Z. Ou,et al. 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, The Journal of molecular diagnostics : JMD.
[26] J. Lupski,et al. Genomic disorders ten years on , 2009, Genome Medicine.
[27] E. Noguchi,et al. Supplemental information Differential arrival of leading and lagging strand DNA polymerases at fission yeast telomeres , 2009 .
[28] L. Shaffer,et al. Further delineation of nonhomologous-based recombination and evidence for subtelomeric segmental duplications in 1p36 rearrangements , 2009, Human Genetics.
[29] J. Lupski,et al. A Microhomology-Mediated Break-Induced Replication Model for the Origin of Human Copy Number Variation , 2009, PLoS genetics.
[30] E. V. Ponochevnaya,et al. Rearrangements of chromosome 9 in different hematological neoplasias , 2008, Cytology and Genetics.
[31] E. Bakker,et al. A 400kb duplication, 2.4Mb triplication and 130kb duplication of 9q34.3 in a patient with severe mental retardation. , 2008, European journal of medical genetics.
[32] P. Stankiewicz,et al. Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: A study of 5,380 cases , 2008, American journal of medical genetics. Part A.
[33] J. Lupski,et al. A DNA Replication Mechanism for Generating Nonrecurrent Rearrangements Associated with Genomic Disorders , 2007, Cell.
[34] Ankita Patel,et al. Prenatal diagnosis of a 9q34.3 microdeletion by array‐CGH in a fetus with an apparently balanced translocation , 2007, Prenatal diagnosis.
[35] D. Ledbetter,et al. Cryptic telomere imbalance: A 15‐year update , 2007, American journal of medical genetics. Part C, Seminars in medical genetics.
[36] R. Verdun,et al. Replication and protection of telomeres , 2007, Nature.
[37] S. Mirkin,et al. Replication Fork Stalling at Natural Impediments , 2007, Microbiology and Molecular Biology Reviews.
[38] D. Conrad,et al. Global variation in copy number in the human genome , 2006, Nature.
[39] N. de Leeuw,et al. Interstitial 2.2 Mb deletion at 9q34 in a patient with mental retardation but without classical features of the 9q subtelomeric deletion syndrome , 2006, American journal of medical genetics. Part A.
[40] R. Giorda,et al. Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome , 2005, Journal of Medical Genetics.
[41] W. Sanger,et al. 9q34 rearrangements in BCR/ABL fusion-negative acute lymphoblastic leukemia. , 2005, Cancer genetics and cytogenetics.
[42] T. Varga,et al. Chromosomal aberrations induced by double strand DNA breaks. , 2005, DNA repair.
[43] P. Stankiewicz,et al. Deletion 9q34.3 syndrome: genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephaly , 2005, Journal of Medical Genetics.
[44] R. Wells,et al. Non-B DNA Conformations, Genomic Rearrangements, and Human Disease* , 2004, Journal of Biological Chemistry.
[45] L. Shaffer,et al. Monosomy 1p36 breakpoint junctions suggest pre-meiotic breakage-fusion-bridge cycles are involved in generating terminal deletions. , 2003, Human molecular genetics.
[46] P. Stankiewicz,et al. Genome architecture, rearrangements and genomic disorders. , 2002, Trends in genetics : TIG.
[47] S. Scherer,et al. Characterization of terminal deletions at 7q32 and 22q13.3 healed by De novo telomere addition. , 2000, American journal of human genetics.
[48] D. Valle,et al. Online Mendelian Inheritance In Man (OMIM) , 2000, Human mutation.
[49] K. Devriendt,et al. Triplication of distal chromosome 10q , 1999, Journal of medical genetics.
[50] J. Lupski. Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits. , 1998, Trends in genetics : TIG.
[51] V. Jay,et al. Partial tetrasomy with triplication of chromosome (5) (p14-p15.33) in a patient with severe multiple congenital anomalies. , 1998, American journal of medical genetics.
[52] J. Crolla,et al. Intrachromosomal triplication of distal 7p. , 1998, Journal of medical genetics.
[53] L. Kearney,et al. Chromosomal stabilisation by a subtelomeric rearrangement involving two closely related Alu elements. , 1996, Human molecular genetics.
[54] A. Rauch,et al. Deletion or triplication of the α3(VI) collagen gene in three patients with 2q37 chromosome aberrations and symptoms of collagen‐related disorders , 1996, Clinical genetics.
[55] H. Williams,et al. Healing of broken human chromosomes by the addition of telomeric repeats. , 1994, American journal of human genetics.
[56] J. Lamb,et al. De novo truncation of chromosome 16p and healing with (TTAGGG)n in the alpha-thalassemia/mental retardation syndrome (ATR-16). , 1993, American journal of human genetics.
[57] A. Wilkie,et al. A truncated human chromosome 16 associated with α thalassaemia is stabilized by addition of telomeric repeat (TTAGGG)n , 1990, Nature.
[58] J. D. Watson. Origin of Concatemeric T7DNA , 1972 .
[59] B. Mcclintock,et al. The Stability of Broken Ends of Chromosomes in Zea Mays. , 1941, Genetics.
[60] E. Bakker,et al. A 400 kb duplication , 2 . 4 Mb triplication and 130 kb duplication of 9 q 34 . 3 in a patient with severe mental retardation , 2010 .
[61] L. Shaffer,et al. Translocation breakpoint mapping and sequence analysis in three monosomy 1p36 subjects with der(1)t(1;1)(p36;q44) suggest mechanisms for telomere capture in stabilizing de novo terminal rearrangements , 2003, Human Genetics.
[62] J. Watson. Origin of concatemeric T7 DNA. , 1972, Nature: New biology.