Published in Sci Rep on January 06, 2017
Global variation in copy number in the human genome. Nature (2006) 57.50
Recent segmental duplications in the human genome. Science (2002) 21.30
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
Personalized copy number and segmental duplication maps using next-generation sequencing. Nat Genet (2009) 11.73
PRDM9 is a major determinant of meiotic recombination hotspots in humans and mice. Science (2009) 8.72
A common sequence motif associated with recombination hot spots and genome instability in humans. Nat Genet (2008) 8.64
Germline rates of de novo meiotic deletions and duplications causing several genomic disorders. Nat Genet (2007) 4.59
A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome. Nat Genet (2001) 4.58
Mechanisms for human genomic rearrangements. Pathogenetics (2008) 4.54
PRDM9 variation strongly influences recombination hot-spot activity and meiotic instability in humans. Nat Genet (2010) 3.33
Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients. Am J Hum Genet (1997) 2.85
Genomic disorders on 22q11. Am J Hum Genet (2002) 2.63
A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease risk. Nat Genet (2010) 2.57
Genomic inversions of human chromosome 15q11-q13 in mothers of Angelman syndrome patients with class II (BP2/3) deletions. Hum Mol Genet (2003) 2.25
The annual incidence of DiGeorge/velocardiofacial syndrome. J Med Genet (1998) 2.16
DNA recombination. Recombination initiation maps of individual human genomes. Science (2014) 2.12
Genetic analysis of variation in human meiotic recombination. PLoS Genet (2009) 2.11
Characterization of six human disease-associated inversion polymorphisms. Hum Mol Genet (2009) 2.00
Meiotic recombination in mammals: localization and regulation. Nat Rev Genet (2013) 2.00
High level of unequal meiotic crossovers at the origin of the 22q11. 2 and 7q11.23 deletions. Hum Mol Genet (1998) 1.98
Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletion. Hum Mol Genet (2003) 1.82
The origins and impact of primate segmental duplications. Trends Genet (2009) 1.69
Shuffling of genes within low-copy repeats on 22q11 (LCR22) by Alu-mediated recombination events during evolution. Genome Res (2003) 1.62
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
Structural haplotypes and recent evolution of the human 17q21.31 region. Nat Genet (2012) 1.41
Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes. Genome Res (2011) 1.37
A novel atypical 22q11.2 distal deletion in father and son. J Med Genet (2002) 1.27
Inversion of the Williams syndrome region is a common polymorphism found more frequently in parents of children with Williams syndrome. Am J Med Genet C Semin Med Genet (2010) 1.22
NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits. Genome Res (2013) 1.21
Copy number variation at the breakpoint region of isochromosome 17q. Genome Res (2008) 1.18
Copy number variation at the 7q11.23 segmental duplications is a susceptibility factor for the Williams-Beuren syndrome deletion. Genome Res (2008) 1.17
A palindrome-driven complex rearrangement of 22q11.2 and 8q24.1 elucidated using novel technologies. Genome Res (2007) 1.15
Rare allelic forms of PRDM9 associated with childhood leukemogenesis. Genome Res (2012) 1.09
Inverted low-copy repeats and genome instability--a genome-wide analysis. Hum Mutat (2012) 1.09
Observation of a parental inversion variant in a rare Williams-Beuren syndrome family with two affected children. Hum Genet (2005) 1.03
Refining the 22q11.2 deletion breakpoints in DiGeorge syndrome by aCGH. Cytogenet Genome Res (2009) 1.03
Simultaneous digital quantification and fluorescence-based size characterization of massively parallel sequencing libraries. Biotechniques (2013) 0.97
Methods to detect CNVs in the human genome. Cytogenet Genome Res (2009) 0.94
Phenotypic variability of atypical 22q11.2 deletions not including TBX1. Am J Med Genet A (2012) 0.94
Phenotypic variability of distal 22q11.2 copy number abnormalities. Am J Med Genet A (2011) 0.93
Recurrent inversion events at 17q21.31 microdeletion locus are linked to the MAPT H2 haplotype. Cytogenet Genome Res (2010) 0.93
No evidence for a parental inversion polymorphism predisposing to rearrangements at 22q11.2 in the DiGeorge/Velocardiofacial syndrome. Eur J Hum Genet (2003) 0.92
Hominoid lineage specific amplification of low-copy repeats on 22q11.2 (LCR22s) associated with velo-cardio-facial/digeorge syndrome. Hum Mol Genet (2007) 0.92
Evaluation of PRDM9 variation as a risk factor for recurrent genomic disorders and chromosomal non-disjunction. Hum Genet (2012) 0.91
Analysis of meiotic recombination in 22q11.2, a region that frequently undergoes deletions and duplications. BMC Med Genet (2007) 0.90
Fluorescence in situ hybridization (FISH) for genomic investigations in rat. Methods Mol Biol (2010) 0.90
Sperm rates of 7q11.23, 15q11q13 and 22q11.2 deletions and duplications: a FISH approach. Hum Genet (2010) 0.89
Characterization of the past and current duplication activities in the human 22q11.2 region. BMC Genomics (2011) 0.87
Resolving genomic disorder-associated breakpoints within segmental DNA duplications using massively parallel sequencing. Nat Protoc (2014) 0.87
Deletions and duplications of the 15q11-q13 region in spermatozoa from Prader-Willi syndrome fathers. Mol Hum Reprod (2010) 0.86
Microdeletion/duplication at the Xq28 IP locus causes a de novo IKBKG/NEMO/IKKgamma exon4_10 deletion in families with Incontinentia Pigmenti. Hum Mutat (2009) 0.85
High-resolution fish on DNA fibers for low-copy repeats genome architecture studies. Genomics (2012) 0.81
Molecular analysis of deletion (17)(p11.2p11.2) in a family segregating a 17p paracentric inversion: implications for carriers of paracentric inversions. Am J Hum Genet (1997) 0.80
Correlation between frequency of non-allelic homologous recombination and homology properties: evidence from homology-mediated CNV mutations in the human genome. Hum Mol Genet (2014) 0.80
High rates of de novo 15q11q13 inversions in human spermatozoa. Mol Cytogenet (2012) 0.78
Geographical genetic variability: a factor to consider when assessing clinical implications of PRDM9. Mol Genet Genomic Med (2014) 0.77
High-resolution FISH analysis. Curr Protoc Hum Genet (2005) 0.76
Deletions and duplications of the 22q11.2 region in spermatozoa from DiGeorge/velocardiofacial fathers. Mol Cytogenet (2014) 0.76