Published in Genome Res on January 01, 2011
Mechanisms for recurrent and complex human genomic rearrangements. Curr Opin Genet Dev (2012) 2.67
Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration. Nat Genet (2012) 2.45
On the sequence-directed nature of human gene mutation: the role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherited disease. Hum Mutat (2011) 1.53
NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits. Genome Res (2013) 1.21
The genetics of microdeletion and microduplication syndromes: an update. Annu Rev Genomics Hum Genet (2014) 1.16
Characterization of complex chromosomal rearrangements by targeted capture and next-generation sequencing. Genome Res (2011) 1.10
Mechanisms underlying structural variant formation in genomic disorders. Nat Rev Genet (2016) 1.06
Recovery of arrested replication forks by homologous recombination is error-prone. PLoS Genet (2012) 1.05
Diverse mutational mechanisms cause pathogenic subtelomeric rearrangements. Hum Mol Genet (2011) 1.05
Characterising chromosome rearrangements: recent technical advances in molecular cytogenetics. Heredity (Edinb) (2011) 1.02
Nonallelic homologous recombination between retrotransposable elements is a driver of de novo unbalanced translocations. Genome Res (2012) 0.98
Chromosomal translocations and palindromic AT-rich repeats. Curr Opin Genet Dev (2012) 0.95
Human Structural Variation: Mechanisms of Chromosome Rearrangements. Trends Genet (2015) 0.93
Evidence for correlation of fragile sites and chromosomal breakpoints in carriers of constitutional balanced chromosomal rearrangements. Balkan J Med Genet (2011) 0.90
Mouse model implicates GNB3 duplication in a childhood obesity syndrome. Proc Natl Acad Sci U S A (2013) 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
Mechanisms of Gene Duplication and Translocation and Progress towards Understanding Their Relative Contributions to Animal Genome Evolution. Int J Evol Biol (2012) 0.84
Context-based FISH localization of genomic rearrangements within chromosome 15q11.2q13 duplicons. Mol Cytogenet (2011) 0.82
Read clouds uncover variation in complex regions of the human genome. Genome Res (2015) 0.81
Unbalanced translocations arise from diverse mutational mechanisms including chromothripsis. Genome Res (2015) 0.80
The chromatin assembly factor 1 promotes Rad51-dependent template switches at replication forks by counteracting D-loop disassembly by the RecQ-type helicase Rqh1. PLoS Biol (2014) 0.79
Pseudoautosomal region 1 length polymorphism in the human population. PLoS Genet (2014) 0.78
Characterization of human chromosomal material exchange with regard to the chromosome translocations using next-generation sequencing data. Genome Biol Evol (2014) 0.78
Two New Cases of 1p21.3 Deletions and an Unbalanced Translocation t(8;12) among Individuals with Syndromic Obesity. Mol Syndromol (2015) 0.78
Deletions and duplications of the 22q11.2 region in spermatozoa from DiGeorge/velocardiofacial fathers. Mol Cytogenet (2014) 0.76
GROM-RD: resolving genomic biases to improve read depth detection of copy number variants. PeerJ (2015) 0.76
Reconstruction and evolutionary history of eutherian chromosomes. Proc Natl Acad Sci U S A (2017) 0.76
Detecting non-allelic homologous recombination from high-throughput sequencing data. Genome Biol (2015) 0.75
Diagnosis of familial Wolf-Hirschhorn syndrome due to a paternal cryptic chromosomal rearrangement by conventional and molecular cytogenetic techniques. Biomed Res Int (2013) 0.75
Integrative Variation Analysis Reveals that a Complex Genotype May Specify Phenotype in Siblings with Syndromic Autism Spectrum Disorder. PLoS One (2017) 0.75
An exploratory study of predisposing genetic factors for DiGeorge/velocardiofacial syndrome. Sci Rep (2017) 0.75
One pedigree we all may have come from - did Adam and Eve have the chromosome 2 fusion? Mol Cytogenet (2016) 0.75
Molecular characterization of ring chromosome 18 by low-coverage next generation sequencing. BMC Med Genet (2015) 0.75
Finishing the euchromatic sequence of the human genome. Nature (2004) 41.40
Origins and functional impact of copy number variation in the human genome. Nature (2009) 23.63
A common inversion under selection in Europeans. Nat Genet (2005) 13.66
Segmental duplications and copy-number variation in the human genome. Am J Hum Genet (2005) 13.33
Genome architecture, rearrangements and genomic disorders. Trends Genet (2002) 12.26
Segmental duplications: organization and impact within the current human genome project assembly. Genome Res (2001) 11.77
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med (2008) 10.88
Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome. Nat Genet (2006) 10.36
PRDM9 is a major determinant of meiotic recombination hotspots in humans and mice. Science (2009) 8.72
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. Nat Genet (2008) 8.44
Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits. Trends Genet (1998) 7.93
Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes. PLoS Genet (2005) 7.60
Drive against hotspot motifs in primates implicates the PRDM9 gene in meiotic recombination. Science (2009) 7.35
Prdm9 controls activation of mammalian recombination hotspots. Science (2009) 7.02
A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism. Nat Genet (2006) 5.92
Natural mutagenesis of human genomes by endogenous retrotransposons. Cell (2010) 5.50
High-throughput sequencing reveals extensive variation in human-specific L1 content in individual human genomes. Genome Res (2010) 5.38
Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. Nat Genet (2008) 4.87
LINE-1 retrotransposition activity in human genomes. Cell (2010) 4.60
Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease. Hum Mol Genet (2004) 4.47
Human subtelomeres are hot spots of interchromosomal recombination and segmental duplication. Nature (2005) 4.30
De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints. Am J Hum Genet (1991) 4.04
Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders. J Med Genet (2008) 3.87
Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome. J Med Genet (2009) 3.87
Mobile interspersed repeats are major structural variants in the human genome. Cell (2010) 3.60
Characterization of a recurrent 15q24 microdeletion syndrome. Hum Mol Genet (2007) 3.54
Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases. PLoS One (2007) 3.53
Mutation spectrum revealed by breakpoint sequencing of human germline CNVs. Nat Genet (2010) 3.52
Discovery of common Asian copy number variants using integrated high-resolution array CGH and massively parallel DNA sequencing. Nat Genet (2010) 3.49
Development and validation of a CGH microarray for clinical cytogenetic diagnosis. Genet Med (2005) 3.39
Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation. Am J Hum Genet (2002) 3.09
Towards a comprehensive structural variation map of an individual human genome. Genome Biol (2010) 2.79
Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia. Am J Hum Genet (2010) 2.70
Genomic disorders on 22q11. Am J Hum Genet (2002) 2.63
Translocation and gross deletion breakpoints in human inherited disease and cancer I: Nucleotide composition and recombination-associated motifs. Hum Mutat (2003) 2.55
Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy. Am J Hum Genet (2007) 2.54
High-resolution human genome structure by single-molecule analysis. Proc Natl Acad Sci U S A (2010) 2.47
Regions of genomic instability on 22q11 and 11q23 as the etiology for the recurrent constitutional t(11;22). Hum Mol Genet (2000) 2.47
Methylation-specific MLPA (MS-MLPA): simultaneous detection of CpG methylation and copy number changes of up to 40 sequences. Nucleic Acids Res (2005) 2.41
Bacterial artificial chromosome-emulation oligonucleotide arrays for targeted clinical array-comparative genomic hybridization analyses. Genet Med (2008) 2.36
AT-rich palindromes mediate the constitutional t(11;22) translocation. Am J Hum Genet (2000) 2.21
Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients. J Med Genet (2007) 2.21
Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders. J Med Genet (2009) 2.13
Human meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP deletion patients. Am J Hum Genet (1998) 2.09
Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project. Am J Hum Genet (2008) 2.06
Long AT-rich palindromes and the constitutional t(11;22) breakpoint. Hum Mol Genet (2001) 2.00
The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes. J Med Genet (2005) 1.94
A chromosomal rearrangement hotspot can be identified from population genetic variation and is coincident with a hotspot for allelic recombination. Am J Hum Genet (2006) 1.86
Site-specific reciprocal translocation, t(11;22) (q23;q11), in several unrelated families with 3:1 meiotic disjunction. Am J Med Genet (1980) 1.82
Breakpoint mapping and array CGH in translocations: comparison of a phenotypically normal and an abnormal cohort. Am J Hum Genet (2008) 1.75
Extensive copy-number variation of the human olfactory receptor gene family. Am J Hum Genet (2008) 1.71
The frequency and mutation rate of balanced autosomal rearrangements in man estimated from prenatal genetic studies for advanced maternal age. Am J Hum Genet (1983) 1.64
Genetic variation affects de novo translocation frequency. Science (2006) 1.55
Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping. Hum Genet (2009) 1.46
Clustered 11q23 and 22q11 breakpoints and 3:1 meiotic malsegregation in multiple unrelated t(11;22) families. Am J Hum Genet (1999) 1.46
On the nosology and pathogenesis of Wolf-Hirschhorn syndrome: genotype-phenotype correlation analysis of 80 patients and literature review. Am J Med Genet C Semin Med Genet (2008) 1.40
Chromosomal microarray analysis (CMA) detects a large X chromosome deletion including FMR1, FMR2, and IDS in a female patient with mental retardation. Am J Med Genet A (2007) 1.37
A palindrome-mediated recurrent translocation with 3:1 meiotic nondisjunction: the t(8;22)(q24.13;q11.21). Am J Hum Genet (2010) 1.30
Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) robustly detects and distinguishes 11p15 abnormalities associated with overgrowth and growth retardation. J Med Genet (2007) 1.30
Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12. Eur J Hum Genet (2009) 1.28
Cryptic genomic imbalances in patients with de novo or familial apparently balanced translocations and abnormal phenotype. Mol Cytogenet (2008) 1.23
Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: array CGH study of 47 unrelated cases. Eur J Med Genet (2009) 1.22
Deletion and duplication of 15q24: molecular mechanisms and potential modification by additional copy number variants. Genet Med (2010) 1.18
Retrotransposition and structural variation in the human genome. Cell (2010) 1.10
Meiotic recombination and spatial proximity in the etiology of the recurrent t(11;22). Am J Hum Genet (2006) 1.05
The t(4;8) is mediated by homologous recombination between olfactory receptor gene clusters, but other 4p16 translocations occur at random. Genet Couns (2007) 0.98
FISH mapping of de novo apparently balanced chromosome rearrangements identifies characteristics associated with phenotypic abnormality. Am J Hum Genet (2008) 0.96
Molecular and genomic characterisation of cryptic chromosomal alterations leading to paternal duplication of the 11p15.5 Beckwith-Wiedemann region. J Med Genet (2006) 0.96
Co-occurrence of 4p16.3 deletions with both paternal and maternal duplications of 11p15: modification of the Wolf-Hirschhorn syndrome phenotype by genetic alterations predicted to result in either a Beckwith-Wiedemann or Russell-Silver phenotype. Am J Med Genet A (2008) 0.92
Human subtelomeric copy number variations. Cytogenet Genome Res (2009) 0.84
The genomic basis of disease, mechanisms and assays for genomic disorders. Genome Dyn (2006) 0.83
Breakpoint mapping and haplotype analysis of three reciprocal translocations identify a novel recurrent translocation in two unrelated families: t(4;11)(p16.2;p15.4). Hum Genet (2008) 0.77
Overlapping phenotype of Wolf-Hirschhorn and Beckwith-Wiedemann syndromes in a girl with der(4)t(4;11)(pter;pter). Am J Med Genet A (2007) 0.76
The complete genome of an individual by massively parallel DNA sequencing. Nature (2008) 52.81
Clinical whole-exome sequencing for the diagnosis of mendelian disorders. N Engl J Med (2013) 15.85
Genome architecture, rearrangements and genomic disorders. Trends Genet (2002) 12.26
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Neuron (2011) 10.61
High-resolution genomic profiling of chromosomal aberrations using Infinium whole-genome genotyping. Genome Res (2006) 10.45
A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders. Cell (2007) 9.81
Mechanisms of change in gene copy number. Nat Rev Genet (2009) 9.01
Structural variation in the human genome and its role in disease. Annu Rev Med (2010) 7.85
Copy number variation in human health, disease, and evolution. Annu Rev Genomics Hum Genet (2009) 7.64
A microhomology-mediated break-induced replication model for the origin of human copy number variation. PLoS Genet (2009) 6.39
Aging hematopoietic stem cells decline in function and exhibit epigenetic dysregulation. PLoS Biol (2007) 5.48
Chromosomal microarray versus karyotyping for prenatal diagnosis. N Engl J Med (2012) 4.97
Implementing genomic medicine in the clinic: the future is here. Genet Med (2013) 4.89
Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. Nat Genet (2008) 4.87
Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates. Nat Genet (2005) 4.76
Mechanisms for human genomic rearrangements. Pathogenetics (2008) 4.54
Whole-genome sequencing for optimized patient management. Sci Transl Med (2011) 4.51
Molecular mechanisms for genomic disorders. Annu Rev Genomics Hum Genet (2002) 4.51
Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease. Hum Mol Genet (2004) 4.47
Completing the map of human genetic variation. Nature (2007) 4.38
Hematopoietic fingerprints: an expression database of stem cells and their progeny. Cell Stem Cell (2007) 4.06
Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation. N Engl J Med (2014) 4.00
Molecular signatures of proliferation and quiescence in hematopoietic stem cells. PLoS Biol (2004) 3.94
Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J. Nature (2007) 3.91
The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans. Nat Genet (2009) 3.81
Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease. Eur J Hum Genet (2006) 3.80
Human genome sequencing in health and disease. Annu Rev Med (2012) 3.76
Genomic rearrangements and gene copy-number alterations as a cause of nervous system disorders. Neuron (2006) 3.65
Differentially methylated forms of histone H3 show unique association patterns with inactive human X chromosomes. Nat Genet (2001) 3.63
Inhibition of SIRT1 reactivates silenced cancer genes without loss of promoter DNA hypermethylation. PLoS Genet (2006) 3.54
Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases. PLoS One (2007) 3.53
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 SUMOylation-dependent transcriptional subprogram is required for Myc-driven tumorigenesis. Science (2011) 3.49
Microbial DNA typing by automated repetitive-sequence-based PCR. J Clin Microbiol (2005) 3.44
Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency. Am J Hum Genet (2011) 3.43
Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations. Am J Hum Genet (2009) 3.42
Development and validation of a CGH microarray for clinical cytogenetic diagnosis. Genet Med (2005) 3.39
Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size. J Med Genet (2009) 3.33
Activation of multiple proto-oncogenic tyrosine kinases in breast cancer via loss of the PTPN12 phosphatase. Cell (2011) 3.27
Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype. Am J Hum Genet (2007) 3.26
American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants. Genet Med (2011) 3.22
The Centers for Mendelian Genomics: a new large-scale initiative to identify the genes underlying rare Mendelian conditions. Am J Med Genet A (2012) 3.12
Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements. Cell (2011) 3.03
Defective DNA single-strand break repair in spinocerebellar ataxia with axonal neuropathy-1. Nature (2005) 2.98
Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia. Nat Genet (2007) 2.94
Detection of clinically relevant exonic copy-number changes by array CGH. Hum Mutat (2010) 2.93
Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy. Nat Genet (2002) 2.91
Identification of an angiogenic factor that when mutated causes susceptibility to Klippel-Trenaunay syndrome. Nature (2004) 2.90
A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population. Pediatrics (2003) 2.88
Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse. Nat Genet (2004) 2.84
Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations. Nat Genet (2004) 2.82
Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males. Genet Med (2006) 2.78
MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2. Brain (2006) 2.77
22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome. Am J Hum Genet (2008) 2.71
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
Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia. Nat Genet (2002) 2.64
A renewable tissue resource of phenotypically stable, biologically and ethnically diverse, patient-derived human breast cancer xenograft models. Cancer Res (2013) 2.63
Genome architecture catalyzes nonrecurrent chromosomal rearrangements. Am J Hum Genet (2003) 2.59
Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching. Hum Mol Genet (2009) 2.50
Increased LIS1 expression affects human and mouse brain development. Nat Genet (2009) 2.45
Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. Am J Hum Genet (2003) 2.37
Bacterial artificial chromosome-emulation oligonucleotide arrays for targeted clinical array-comparative genomic hybridization analyses. Genet Med (2008) 2.36