Published in Trends Genet on July 22, 2015
High-resolution copy number variation analysis of schizophrenia in Japan. Mol Psychiatry (2016) 0.87
Regulation of Single-Strand Annealing and its Role in Genome Maintenance. Trends Genet (2016) 0.85
The pangenome of an agronomically important crop plant Brassica oleracea. Nat Commun (2016) 0.78
Chromoanasynthetic Genomic Rearrangement Identified in a N-Ethyl-N-Nitrosourea (ENU) Mutagenesis Screen in Caenorhabditis elegans. G3 (Bethesda) (2015) 0.77
Constitutional chromothripsis involving the critical region of 9q21.13 microdeletion syndrome. Mol Cytogenet (2015) 0.76
DNA Repair-A Double-Edged Sword in the Genomic Stability of Cancer Cells-The Case of Chronic Myeloid Leukemia. Int J Mol Sci (2015) 0.75
The Immune Syntax Revisited: Opening New Windows on Language Evolution. Front Mol Neurosci (2016) 0.75
A clear bias in parental origin of de novo pathogenic CNVs related to intellectual disability, developmental delay and multiple congenital anomalies. Sci Rep (2017) 0.75
Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3. PLoS Genet (2016) 0.75
Current companion diagnostics in advanced colorectal cancer; getting a bigger and better piece of the pie. J Gastrointest Oncol (2017) 0.75
An Organismal CNV Mutator Phenotype Restricted to Early Human Development. Cell (2017) 0.75
Whole genome and exome sequencing realignment supports the assignment of KCNJ12, KCNJ17, and KCNJ18 paralogous genes in thyrotoxic periodic paralysis locus: functional characterization of two polymorphic Kir2.6 isoforms. Mol Genet Genomics (2016) 0.75
Identification of an atypical microdeletion generating the RNF135-SUZ12 chimeric gene and causing a position effect in an NF1 patient with overgrowth. Hum Genet (2017) 0.75
Global variation in copy number in the human genome. Nature (2006) 57.50
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
Fine-scale structural variation of the human genome. Nat Genet (2005) 24.31
Massive genomic rearrangement acquired in a single catastrophic event during cancer development. Cell (2011) 16.72
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet (2010) 13.70
High-resolution mapping of copy-number alterations with massively parallel sequencing. Nat Methods (2008) 12.56
Mapping copy number variation by population-scale genome sequencing. Nature (2011) 12.55
Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders. Nat Genet (2006) 11.14
Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome. Nat Genet (2006) 10.36
The mechanism of double-strand DNA break repair by the nonhomologous DNA end-joining pathway. Annu Rev Biochem (2010) 9.80
A copy number variation morbidity map of developmental delay. Nat Genet (2011) 9.58
Mechanisms of change in gene copy number. Nat Rev Genet (2009) 9.01
Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits. Trends Genet (1998) 7.93
Structural variation in the human genome and its role in disease. Annu Rev Med (2010) 7.85
CNVnator: an approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing. Genome Res (2011) 6.97
Molecular findings among patients referred for clinical whole-exome sequencing. JAMA (2014) 6.46
DNA breaks and chromosome pulverization from errors in mitosis. Nature (2012) 5.19
Clinical exome sequencing for genetic identification of rare Mendelian disorders. JAMA (2014) 4.75
An APOBEC cytidine deaminase mutagenesis pattern is widespread in human cancers. Nat Genet (2013) 4.69
Sequencing of neuroblastoma identifies chromothripsis and defects in neuritogenesis genes. Nature (2012) 4.53
PEMer: a computational framework with simulation-based error models for inferring genomic structural variants from massive paired-end sequencing data. Genome Biol (2009) 4.18
Chromosome instability is common in human cleavage-stage embryos. Nat Med (2009) 3.85
The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans. Nat Genet (2009) 3.81
Genome sequencing identifies major causes of severe intellectual disability. Nature (2014) 3.68
Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements. Am J Hum Genet (2001) 3.57
Mutation spectrum revealed by breakpoint sequencing of human germline CNVs. Nat Genet (2010) 3.52
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
A human genome structural variation sequencing resource reveals insights into mutational mechanisms. Cell (2010) 3.22
Refining analyses of copy number variation identifies specific genes associated with developmental delay. Nat Genet (2014) 3.21
Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation. Am J Hum Genet (2002) 3.09
Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements. Cell (2011) 3.03
Resolving the complexity of the human genome using single-molecule sequencing. Nature (2014) 2.96
Mapping translocation breakpoints by next-generation sequencing. Genome Res (2008) 2.73
Constitutional chromothripsis rearrangements involve clustered double-stranded DNA breaks and nonhomologous repair mechanisms. Cell Rep (2012) 2.67
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
A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease risk. Nat Genet (2010) 2.57
Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome. J Med Genet (2005) 2.54
Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration. Nat Genet (2012) 2.45
Chromothripsis as a mechanism driving complex de novo structural rearrangements in the germline. Hum Mol Genet (2011) 2.43
Spastic paraplegia type 2 associated with axonal neuropathy and apparent PLP1 position effect. Ann Neurol (2006) 2.25
Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project. Am J Hum Genet (2008) 2.06
Characterization of six human disease-associated inversion polymorphisms. Hum Mol Genet (2009) 2.00
Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome. Nat Genet (2011) 1.93
A sex chromosome rearrangement in a human XX male caused by Alu-Alu recombination. Cell (1987) 1.93
Position effects due to chromosome breakpoints that map approximately 900 Kb upstream and approximately 1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia. Am J Hum Genet (2005) 1.87
Aniridia-associated cytogenetic rearrangements suggest that a position effect may cause the mutant phenotype. Hum Mol Genet (1995) 1.86
Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture. Hum Mol Genet (2009) 1.84
Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype. J Med Genet (2009) 1.74
The 11q terminal deletion disorder: a prospective study of 110 cases. Am J Med Genet A (2004) 1.65
Natural history of Wolf-Hirschhorn syndrome: experience with 15 cases. Pediatrics (1999) 1.58
Replicative mechanisms for CNV formation are error prone. Nat Genet (2013) 1.54
Paired-end sequencing of Fosmid libraries by Illumina. Genome Res (2012) 1.52
High-resolution mapping of genotype-phenotype relationships in cri du chat syndrome using array comparative genomic hybridization. Am J Hum Genet (2005) 1.51
Frequency of nonallelic homologous recombination is correlated with length of homology: evidence that ectopic synapsis precedes ectopic crossing-over. Am J Hum Genet (2011) 1.43
Functional genomic analysis of chromosomal aberrations in a compendium of 8000 cancer genomes. Genome Res (2012) 1.39
Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes. Genome Res (2011) 1.37
Intrastrand annealing leads to the formation of a large DNA palindrome and determines the boundaries of genomic amplification in human cancer. Mol Cell Biol (2007) 1.36
Chromoanagenesis and cancer: mechanisms and consequences of localized, complex chromosomal rearrangements. Nat Med (2012) 1.32
Insertional translocation detected using FISH confirmation of array-comparative genomic hybridization (aCGH) results. Am J Med Genet A (2010) 1.31
A balanced translocation t(6;14)(q25.3;q13.2) leading to reciprocal fusion transcripts in a patient with intellectual disability and agenesis of corpus callosum. Cytogenet Genome Res (2010) 1.31
The effect of translocation-induced nuclear reorganization on gene expression. Genome Res (2010) 1.27
Characterizing complex structural variation in germline and somatic genomes. Trends Genet (2011) 1.25
NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits. Genome Res (2013) 1.21
Genome-wide mapping of copy number variation in humans: comparative analysis of high resolution array platforms. PLoS One (2011) 1.18
Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndrome. Am J Hum Genet (2005) 1.18
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
Transactivation function of an approximately 800-bp evolutionarily conserved sequence at the SHOX 3' region: implication for the downstream enhancer. Am J Hum Genet (2006) 1.17
The genetics of microdeletion and microduplication syndromes: an update. Annu Rev Genomics Hum Genet (2014) 1.16
Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain. PLoS Genet (2013) 1.16
The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles. Am J Hum Genet (2014) 1.14
Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies. Eur J Hum Genet (2011) 1.11
Formation of chimeric genes by copy-number variation as a mutational mechanism in schizophrenia. Am J Hum Genet (2013) 1.10
Chromothriptic cure of WHIM syndrome. Cell (2015) 1.07
Chromothripsis in congenital disorders and cancer: similarities and differences. Curr Opin Cell Biol (2013) 1.05
Fine mapping of chromosome 17 translocation breakpoints > or = 900 Kb upstream of SOX9 in acampomelic campomelic dysplasia and a mild, familial skeletal dysplasia. Am J Hum Genet (2005) 1.05
Diverse mutational mechanisms cause pathogenic subtelomeric rearrangements. Hum Mol Genet (2011) 1.05
Recurrence, submicroscopic complexity, and potential clinical relevance of copy gains detected by array CGH that are shown to be unbalanced insertions by FISH. Genome Res (2011) 1.01
Pelizaeus-Merzbacher disease caused by a duplication-inverted triplication-duplication in chromosomal segments including the PLP1 region. Eur J Med Genet (2012) 1.01
Disruption of autoregulatory feedback by a mutation in a remote, ultraconserved PAX6 enhancer causes aniridia. Am J Hum Genet (2013) 0.99
Nonallelic homologous recombination between retrotransposable elements is a driver of de novo unbalanced translocations. Genome Res (2012) 0.98
The strength of combined cytogenetic and mate-pair sequencing techniques illustrated by a germline chromothripsis rearrangement involving FOXP2. Eur J Hum Genet (2013) 0.96
Chromosomal translocations and palindromic AT-rich repeats. Curr Opin Genet Dev (2012) 0.95
Complex genomic rearrangements at the PLP1 locus include triplication and quadruplication. PLoS Genet (2015) 0.93
Inverted duplications on acentric markers: mechanism of formation. Hum Mol Genet (2009) 0.93
Detection of chromosomal breakpoints in patients with developmental delay and speech disorders. PLoS One (2014) 0.92
Large inverted duplications in the human genome form via a fold-back mechanism. PLoS Genet (2014) 0.91
Breakpoint features of genomic rearrangements in neuroblastoma with unbalanced translocations and chromothripsis. PLoS One (2013) 0.91
Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes. Am J Hum Genet (2014) 0.90
Resolving the breakpoints of the 17q21.31 microdeletion syndrome with next-generation sequencing. Am J Hum Genet (2012) 0.90
Mouse model implicates GNB3 duplication in a childhood obesity syndrome. Proc Natl Acad Sci U S A (2013) 0.90
Cryptic and complex chromosomal aberrations in early-onset neuropsychiatric disorders. Am J Hum Genet (2014) 0.90
A common molecular mechanism underlies two phenotypically distinct 17p13.1 microdeletion syndromes. Am J Hum Genet (2010) 0.90
A recurrent translocation is mediated by homologous recombination between HERV-H elements. Mol Cytogenet (2012) 0.88
Genome-wide analyses of LINE-LINE-mediated nonallelic homologous recombination. Nucleic Acids Res (2015) 0.87
Homeologous recombination between AluSx-sequences as a cause of hemophilia. Hum Mutat (2004) 0.87
Human endogenous retroviral elements promote genome instability via non-allelic homologous recombination. BMC Biol (2014) 0.87
Tandem repeats and G-rich sequences are enriched at human CNV breakpoints. PLoS One (2014) 0.86
Design of large-insert jumping libraries for structural variant detection using illumina sequencing. Curr Protoc Hum Genet (2014) 0.86