Published in Am J Hum Genet on February 19, 2009
Signatures of mutation and selection in the cancer genome. Nature (2010) 9.75
Mechanisms of change in gene copy number. Nat Rev Genet (2009) 9.01
Mammalian telomeres resemble fragile sites and require TRF1 for efficient replication. Cell (2009) 5.74
The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans. Nat Genet (2009) 3.81
Mechanisms for recurrent and complex human genomic rearrangements. Curr Opin Genet Dev (2012) 2.67
Complex human chromosomal and genomic rearrangements. Trends Genet (2009) 2.66
Copy number variations in schizophrenia: critical review and new perspectives on concepts of genetics and disease. Am J Psychiatry (2010) 1.95
Triggers for genomic rearrangements: insights into genomic, cellular and environmental influences. Nat Rev Genet (2010) 1.82
Paternal age effect mutations and selfish spermatogonial selection: causes and consequences for human disease. Am J Hum Genet (2012) 1.78
Genomic instability in induced stem cells. Cell Death Differ (2011) 1.63
Chromothripsis and beyond: rapid genome evolution from complex chromosomal rearrangements. Genes Dev (2013) 1.61
Early embryonic chromosome instability results in stable mosaic pattern in human tissues. PLoS One (2010) 1.32
Inhibition of homologous recombination by DNA-dependent protein kinase requires kinase activity, is titratable, and is modulated by autophosphorylation. Mol Cell Biol (2011) 1.32
Initiation of genome instability and preneoplastic processes through loss of Fhit expression. PLoS Genet (2012) 1.27
Copy number variation, chromosome rearrangement, and their association with recombination during avian evolution. Genome Res (2010) 1.26
Characterizing complex structural variation in germline and somatic genomes. Trends Genet (2011) 1.25
Replication stress and mechanisms of CNV formation. Curr Opin Genet Dev (2012) 1.23
Choosing the right path: does DNA-PK help make the decision? Mutat Res (2011) 1.18
Break-induced DNA replication. Cold Spring Harb Perspect Biol (2013) 1.17
Next-generation sequencing of duplication CNVs reveals that most are tandem and some create fusion genes at breakpoints. Am J Hum Genet (2015) 1.17
Hydroxyurea induces de novo copy number variants in human cells. Proc Natl Acad Sci U S A (2011) 1.17
RAF gene fusion breakpoints in pediatric brain tumors are characterized by significant enrichment of sequence microhomology. Genome Res (2011) 1.14
Mechanisms of genomic instabilities underlying two common fragile-site-associated loci, PARK2 and DMD, in germ cell and cancer cell lines. Am J Hum Genet (2010) 1.10
Copy-number gains of HUWE1 due to replication- and recombination-based rearrangements. Am J Hum Genet (2012) 1.09
De novo CNV formation in mouse embryonic stem cells occurs in the absence of Xrcc4-dependent nonhomologous end joining. PLoS Genet (2012) 1.07
Diverse mutational mechanisms cause pathogenic subtelomeric rearrangements. Hum Mol Genet (2011) 1.05
Large transcription units unify copy number variants and common fragile sites arising under replication stress. Genome Res (2014) 1.01
Structural variation mutagenesis of the human genome: Impact on disease and evolution. Environ Mol Mutagen (2015) 1.00
Drosophila duplication hotspots are associated with late-replicating regions of the genome. PLoS Genet (2011) 0.96
Comparison of constitutional and replication stress-induced genome structural variation by SNP array and mate-pair sequencing. Genetics (2011) 0.95
Large inverted duplications in the human genome form via a fold-back mechanism. PLoS Genet (2014) 0.91
Genomic organization and evolution of double minutes/homogeneously staining regions with MYC amplification in human cancer. Nucleic Acids Res (2014) 0.91
Copy number variants (CNVs) in primate species using array-based comparative genomic hybridization. Methods (2009) 0.91
Comparison of Genomic and Epigenomic Expression in Monozygotic Twins Discordant for Rett Syndrome. PLoS One (2013) 0.89
Inhibition of topoisomerase I prevents chromosome breakage at common fragile sites. DNA Repair (Amst) (2010) 0.89
The human genome puzzle - the role of copy number variation in somatic mosaicism. Curr Genomics (2010) 0.87
Aberrant firing of replication origins potentially explains intragenic nonrecurrent rearrangements within genes, including the human DMD gene. Genome Res (2011) 0.86
Impaired DNA replication prompts deletions within palindromic sequences, but does not induce translocations in human cells. Hum Mol Genet (2009) 0.86
Characterization at nucleotide resolution of the homogeneously staining region sites of insertion in two cancer cell lines. Nucleic Acids Res (2013) 0.84
Late-replicating CNVs as a source of new genes. Biol Open (2013) 0.84
MYC and the control of DNA replication. Cold Spring Harb Perspect Med (2014) 0.84
Back to the origin: reconsidering replication, transcription, epigenetics, and cell cycle control. Genes Cancer (2012) 0.82
Two Distinct Categories of Focal Deletions in Cancer Genomes. PLoS One (2013) 0.82
Copy number variants are produced in response to low-dose ionizing radiation in cultured cells. Environ Mol Mutagen (2013) 0.81
DNA-PKcs and PARP1 Bind to Unresected Stalled DNA Replication Forks Where They Recruit XRCC1 to Mediate Repair. Cancer Res (2015) 0.81
A Novel Microduplication in the Neurodevelopmental Gene SRGAP3 That Segregates with Psychotic Illness in the Family of a COS Proband. Case Rep Genet (2011) 0.80
Global analysis of genomic instability caused by DNA replication stress in Saccharomyces cerevisiae. Proc Natl Acad Sci U S A (2016) 0.78
Identification of recurrent focal copy number variations and their putative targeted driver genes in ovarian cancer. BMC Bioinformatics (2016) 0.77
Controlled somatic and germline copy number variation in the mouse model. Curr Genomics (2010) 0.76
Epigenetic mechanisms and therapeutic perspectives for neurodevelopmental disorders. Pharmaceuticals (Basel) (2012) 0.76
Common Chemical Inductors of Replication Stress: Focus on Cell-Based Studies. Biomolecules (2017) 0.75
An Organismal CNV Mutator Phenotype Restricted to Early Human Development. Cell (2017) 0.75
Polymorphisms in α-Defensin-Encoding DEFA1A3 Associate with Urinary Tract Infection Risk in Children with Vesicoureteral Reflux. J Am Soc Nephrol (2016) 0.75
PMS2 inactivation by a complex rearrangement involving an HERV retroelement and the inverted 100-kb duplicon on 7p22.1. Eur J Hum Genet (2016) 0.75
Influence of aflatoxin B1 on copy number variants in human leukocytes in vitro. Mol Cytogenet (2015) 0.75
Perturbations in the Replication Program Contribute to Genomic Instability in Cancer. Int J Mol Sci (2017) 0.75
Fragile sites in cancer: more than meets the eye. Nat Rev Cancer (2017) 0.75
Genomic structural variation in affective, anxiety, and stress-related disorders. J Neural Transm (Vienna) (2014) 0.75
Looping-out mechanism for resolution of replicative stress at telomeres. EMBO Rep (2017) 0.75
Global variation in copy number in the human genome. Nature (2006) 57.50
Detection of large-scale variation in the human genome. Nat Genet (2004) 49.18
Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing. Nat Genet (2008) 43.63
Large-scale copy number polymorphism in the human genome. Science (2004) 34.64
Paired-end mapping reveals extensive structural variation in the human genome. Science (2007) 30.46
Mapping and sequencing of structural variation from eight human genomes. Nature (2008) 30.28
Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med (2008) 19.71
A high-resolution survey of deletion polymorphism in the human genome. Nat Genet (2005) 16.99
Segmental duplications and copy-number variation in the human genome. Am J Hum Genet (2005) 13.33
A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders. Cell (2007) 9.81
Common deletions and SNPs are in linkage disequilibrium in the human genome. Nat Genet (2005) 9.61
Copy number variation: new insights in genome diversity. Genome Res (2006) 8.66
Linkage disequilibrium and heritability of copy-number polymorphisms within duplicated regions of the human genome. Am J Hum Genet (2006) 7.70
Aphidicolin prevents mitotic cell division by interfering with the activity of DNA polymerase-alpha. Nature (1978) 5.91
Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles. Am J Hum Genet (2008) 5.53
53BP1 promotes non-homologous end joining of telomeres by increasing chromatin mobility. Nature (2008) 5.11
The fine-scale and complex architecture of human copy-number variation. Am J Hum Genet (2008) 5.08
Alternative-NHEJ is a mechanistically distinct pathway of mammalian chromosome break repair. PLoS Genet (2008) 4.71
Integrated analysis of homozygous deletions, focal amplifications, and sequence alterations in breast and colorectal cancers. Proc Natl Acad Sci U S A (2008) 4.13
53BP1 facilitates long-range DNA end-joining during V(D)J recombination. Nature (2008) 3.47
Excess Mcm2-7 license dormant origins of replication that can be used under conditions of replicative stress. J Cell Biol (2006) 3.27
DNA polymerase alpha inhibition by aphidicolin induces gaps and breaks at common fragile sites in human chromosomes. Hum Genet (1984) 2.92
Double-strand break repair in Ku86- and XRCC4-deficient cells. Nucleic Acids Res (1998) 2.89
Common chromosomal fragile site FRA16D sequence: identification of the FOR gene spanning FRA16D and homozygous deletions and translocation breakpoints in cancer cells. Hum Mol Genet (2000) 2.56
Translocation and gross deletion breakpoints in human inherited disease and cancer I: Nucleotide composition and recombination-associated motifs. Hum Mutat (2003) 2.55
Segmental duplications arise from Pol32-dependent repair of broken forks through two alternative replication-based mechanisms. PLoS Genet (2008) 2.54
Replication stress induces tumor-like microdeletions in FHIT/FRA3B. Proc Natl Acad Sci U S A (2007) 2.27
Duplicational mutation at the Duchenne muscular dystrophy locus: its frequency, distribution, origin, and phenotypegenotype correlation. Am J Hum Genet (1990) 2.20
Molecular characterization of a common fragile site (FRA7H) on human chromosome 7 by the cloning of a simian virus 40 integration site. Proc Natl Acad Sci U S A (1998) 2.16
Extensive genomic copy number variation in embryonic stem cells. Proc Natl Acad Sci U S A (2008) 1.91
Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and females. Am J Hum Genet (2002) 1.88
Genome-wide copy number profiling reveals molecular evolution from diagnosis to relapse in childhood acute lymphoblastic leukemia. Blood (2008) 1.79
Non-recurrent 17p11.2 deletions are generated by homologous and non-homologous mechanisms. Hum Genet (2004) 1.64
Duplications in the DMD gene. Hum Mutat (2006) 1.58
On the origin of deletions and point mutations in Duchenne muscular dystrophy: most deletions arise in oogenesis and most point mutations result from events in spermatogenesis. J Med Genet (1994) 1.47
Proteolipid protein gene duplications causing Pelizaeus-Merzbacher disease: molecular mechanism and phenotypic manifestations. Ann Neurol (1999) 1.45
The H-cadherin (CDH13) gene is inactivated in human lung cancer. Hum Genet (1998) 1.35
Copy number variation in the genome; the human DMD gene as an example. Cytogenet Genome Res (2006) 1.29
Medical applications of array CGH and the transformation of clinical cytogenetics. Cytogenet Genome Res (2006) 1.25
Involvement of H-cadherin (CDH13) on 16q in the region of frequent deletion in ovarian cancer. Int J Oncol (1999) 1.07
Genomic disorders: genome architecture results in susceptibility to DNA rearrangements causing common human traits. Cold Spring Harb Symp Quant Biol (2003) 1.06
The mutagenic potential of non-homologous end joining in the absence of the NHEJ core factors Ku70/80, DNA-PKcs and XRCC4-LigIV. Mutagenesis (2007) 1.05
Molecular characterization of FRAXB and comparative common fragile site instability in cancer cells. Genes Chromosomes Cancer (2002) 1.03
Involvement of Ku80 in microhomology-mediated end joining for DNA double-strand breaks in vivo. DNA Repair (Amst) (2007) 1.03
Characterization of de novo microdeletions involving 17q11.2q12 identified through chromosomal comparative genomic hybridization. Clin Genet (2007) 0.83
Complex patterns of chromosome 9 alterations including the p16INK4a locus in Wilms tumours. J Clin Pathol (2007) 0.82
Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. Nature (2003) 12.10
The mGluR theory of fragile X mental retardation. Trends Neurosci (2004) 8.88
Altered synaptic plasticity in a mouse model of fragile X mental retardation. Proc Natl Acad Sci U S A (2002) 6.45
Fragile X syndrome: loss of local mRNA regulation alters synaptic development and function. Neuron (2008) 6.26
Chromosome fragile sites. Annu Rev Genet (2007) 4.95
ATR regulates fragile site stability. Cell (2002) 4.74
Biochemical and genetic interaction between the fragile X mental retardation protein and the microRNA pathway. Nat Neurosci (2004) 4.69
A decade of molecular studies of fragile X syndrome. Annu Rev Neurosci (2002) 3.54
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities. Genet Med (2011) 3.51
Pur alpha binds to rCGG repeats and modulates repeat-mediated neurodegeneration in a Drosophila model of fragile X tremor/ataxia syndrome. Neuron (2007) 3.17
The pathophysiology of fragile x syndrome. Annu Rev Genomics Hum Genet (2007) 2.85
RNA-mediated neurodegeneration caused by the fragile X premutation rCGG repeats in Drosophila. Neuron (2003) 2.81
Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia. Am J Hum Genet (2010) 2.70
Incomplete processing of mutant lamin A in Hutchinson-Gilford progeria leads to nuclear abnormalities, which are reversed by farnesyltransferase inhibition. Hum Mol Genet (2005) 2.69
Phosphorylation influences the translation state of FMRP-associated polyribosomes. Hum Mol Genet (2003) 2.66
RNA and microRNAs in fragile X mental retardation. Nat Cell Biol (2004) 2.63
Genome-wide expression profiling of lymphoblastoid cell lines distinguishes different forms of autism and reveals shared pathways. Hum Mol Genet (2007) 2.55
Age-associated DNA methylation in pediatric populations. Genome Res (2012) 2.53
Relative burden of large CNVs on a range of neurodevelopmental phenotypes. PLoS Genet (2011) 2.46
Molecular mechanisms of fragile X syndrome: a twenty-year perspective. Annu Rev Pathol (2011) 2.39
Microdeletions of 3q29 confer high risk for schizophrenia. Am J Hum Genet (2010) 2.38
The fragile X protein controls microtubule-associated protein 1B translation and microtubule stability in brain neuron development. Proc Natl Acad Sci U S A (2004) 2.34
Reversible inhibition of PSD-95 mRNA translation by miR-125a, FMRP phosphorylation, and mGluR signaling. Mol Cell (2011) 2.27
Replication stress induces tumor-like microdeletions in FHIT/FRA3B. Proc Natl Acad Sci U S A (2007) 2.27
The Fanconi anemia pathway is required for the DNA replication stress response and for the regulation of common fragile site stability. Hum Mol Genet (2005) 2.23
Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA. Am J Hum Genet (2009) 2.12
Fragile X mental retardation protein deficiency leads to excessive mGluR5-dependent internalization of AMPA receptors. Proc Natl Acad Sci U S A (2007) 2.10
Identification of small molecules rescuing fragile X syndrome phenotypes in Drosophila. Nat Chem Biol (2008) 2.04
FMRP phosphorylation reveals an immediate-early signaling pathway triggered by group I mGluR and mediated by PP2A. J Neurosci (2007) 2.02
Excess phosphoinositide 3-kinase subunit synthesis and activity as a novel therapeutic target in fragile X syndrome. J Neurosci (2010) 1.89
S6K1 phosphorylates and regulates fragile X mental retardation protein (FMRP) with the neuronal protein synthesis-dependent mammalian target of rapamycin (mTOR) signaling cascade. J Biol Chem (2008) 1.87
Local RNA translation at the synapse and in disease. J Neurosci (2011) 1.83
Combining ATR suppression with oncogenic Ras synergistically increases genomic instability, causing synthetic lethality or tumorigenesis in a dosage-dependent manner. Cancer Res (2010) 1.82
Common fragile sites as targets for chromosome rearrangements. DNA Repair (Amst) (2006) 1.82
Fragile X syndrome. Eur J Hum Genet (2008) 1.81
Reversal of disease-related pathologies in the fragile X mouse model by selective activation of GABAB receptors with arbaclofen. Sci Transl Med (2012) 1.72
Transcription, translation and fragile X syndrome. Curr Opin Genet Dev (2006) 1.72
Mechanisms of common fragile site instability. Hum Mol Genet (2005) 1.69
New insights into fragile X syndrome: from molecules to neurobehaviors. Trends Biochem Sci (2003) 1.68
Signatures of founder effects, admixture, and selection in the Ashkenazi Jewish population. Proc Natl Acad Sci U S A (2010) 1.64
The hepatocyte nuclear factor 3 alpha gene, HNF3alpha (FOXA1), on chromosome band 14q13 is amplified and overexpressed in esophageal and lung adenocarcinomas. Cancer Res (2002) 1.60
Histone modifications depict an aberrantly heterochromatinized FMR1 gene in fragile x syndrome. Am J Hum Genet (2002) 1.59
FOXC2 haploinsufficient mice are a model for human autosomal dominant lymphedema-distichiasis syndrome. Hum Mol Genet (2003) 1.55
Differential roles for DNA polymerases eta, zeta, and REV1 in lesion bypass of intrastrand versus interstrand DNA cross-links. Mol Cell Biol (2009) 1.54
A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci. PLoS Genet (2012) 1.52
A Gata2 intronic enhancer confers its pan-endothelia-specific regulation. Development (2007) 1.50
Polyglutamine domain modulates the TBP-TFIIB interaction: implications for its normal function and neurodegeneration. Nat Neurosci (2007) 1.46
Oncogenic stress sensitizes murine cancers to hypomorphic suppression of ATR. J Clin Invest (2011) 1.46
BRCA1 is required for common-fragile-site stability via its G2/M checkpoint function. Mol Cell Biol (2004) 1.45
Segmental duplications mediate novel, clinically relevant chromosome rearrangements. Hum Mol Genet (2009) 1.44
Microarray-based mutation detection in the dystrophin gene. Hum Mutat (2008) 1.39
Physiological identification of human transcripts translationally regulated by a specific microRNA. Hum Mol Genet (2005) 1.39
REV1 and polymerase ζ facilitate homologous recombination repair. Nucleic Acids Res (2011) 1.37
Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS. J Med Genet (2012) 1.33
Subtelomeric hotspots of aberrant 5-hydroxymethylcytosine-mediated epigenetic modifications during reprogramming to pluripotency. Nat Cell Biol (2013) 1.27
The unstable repeats--three evolving faces of neurological disease. Neuron (2013) 1.26
New perspectives on the biology of fragile X syndrome. Curr Opin Genet Dev (2012) 1.23
Replication stress and mechanisms of CNV formation. Curr Opin Genet Dev (2012) 1.23
Functional interaction between the Fanconi Anemia D2 protein and proliferating cell nuclear antigen (PCNA) via a conserved putative PCNA interaction motif. J Biol Chem (2009) 1.22
A sequence variation scan of the coagulation factor VIII (FVIII) structural gene and associations with plasma FVIII activity levels. Blood (2007) 1.22
Mosaic FMR1 deletion causes fragile X syndrome and can lead to molecular misdiagnosis: a case report and review of the literature. Am J Med Genet A (2008) 1.21
Genome-wide DNA hydroxymethylation changes are associated with neurodevelopmental genes in the developing human cerebellum. Hum Mol Genet (2012) 1.21
Hydroxyurea induces de novo copy number variants in human cells. Proc Natl Acad Sci U S A (2011) 1.17
Identification of novel FMR1 variants by massively parallel sequencing in developmentally delayed males. Am J Med Genet A (2010) 1.16
Neurogenetics: advancing the "next-generation" of brain research. Neuron (2010) 1.16
Chromosomal instability at common fragile sites in Seckel syndrome. Am J Hum Genet (2004) 1.15
Fragile X protein functions with lgl and the par complex in flies and mice. Dev Cell (2005) 1.14
The fragile X mental retardation protein, FMRP, recognizes G-quartets. Ment Retard Dev Disabil Res Rev (2004) 1.14
Activation of GATA binding protein 6 (GATA6) sustains oncogenic lineage-survival in esophageal adenocarcinoma. Proc Natl Acad Sci U S A (2012) 1.12
De novo CNV formation in mouse embryonic stem cells occurs in the absence of Xrcc4-dependent nonhomologous end joining. PLoS Genet (2012) 1.07
Diverse mutational mechanisms cause pathogenic subtelomeric rearrangements. Hum Mol Genet (2011) 1.05
Molecular characterization of FRAXB and comparative common fragile site instability in cancer cells. Genes Chromosomes Cancer (2002) 1.03
Array-based assay detects genome-wide 5-mC and 5-hmC in the brains of humans, non-human primates, and mice. BMC Genomics (2014) 1.03
Foxc2 is expressed in developing lymphatic vessels and other tissues associated with lymphedema-distichiasis syndrome. Gene Expr Patterns (2004) 1.02
Fragile X syndrome: an update and review for the primary pediatrician. Clin Pediatr (Phila) (2005) 1.01
Amplification and overexpression of the dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2 (DYRK2) gene in esophageal and lung adenocarcinomas. Cancer Res (2003) 1.01
Argonaute2 is essential for mammalian gastrulation and proper mesoderm formation. PLoS Genet (2007) 0.99
Direct correlation between FRA3B expression and cigarette smoking. Genes Chromosomes Cancer (2002) 0.99
Genome-wide analysis validates aberrant methylation in fragile X syndrome is specific to the FMR1 locus. BMC Med Genet (2013) 0.97
Gene expression profiles in a transgenic animal model of fragile X syndrome. Neurobiol Dis (2002) 0.96
Comparison of constitutional and replication stress-induced genome structural variation by SNP array and mate-pair sequencing. Genetics (2011) 0.95
Array-based FMR1 sequencing and deletion analysis in patients with a fragile X syndrome-like phenotype. PLoS One (2010) 0.93
Exome sequencing identifies a novel FOXP3 mutation in a 2-generation family with inflammatory bowel disease. J Pediatr Gastroenterol Nutr (2014) 0.92
Disruption of RAB40AL function leads to Martin--Probst syndrome, a rare X-linked multisystem neurodevelopmental human disorder. J Med Genet (2012) 0.90
Mouse model implicates GNB3 duplication in a childhood obesity syndrome. Proc Natl Acad Sci U S A (2013) 0.90