Published in Brief Funct Genomics on May 20, 2015
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Identification of a 3.0-kb major recombination hotspot in patients with Sotos syndrome who carry a common 1.9-Mb microdeletion. Am J Hum Genet (2004) 1.27
Dementia risk in Parkinson disease: disentangling the role of MAPT haplotypes. Arch Neurol (2011) 1.23
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Role of the tau gene region chromosome inversion in progressive supranuclear palsy, corticobasal degeneration, and related disorders. Arch Neurol (2008) 1.01
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Identification of polymorphic inversions from genotypes. BMC Bioinformatics (2012) 0.99
A common 16p11.2 inversion underlies the joint susceptibility to asthma and obesity. Am J Hum Genet (2014) 0.97
Identification and frequency estimation of inversion polymorphisms from haplotype data. J Comput Biol (2010) 0.97
Deletion of an enhancer near DLX5 and DLX6 in a family with hearing loss, craniofacial defects, and an inv(7)(q21.3q35). Hum Genet (2010) 0.95
Investigation of inversion polymorphisms in the human genome using principal components analysis. PLoS One (2012) 0.95
Mechanisms of formation of structural variation in a fully sequenced human genome. Hum Mutat (2012) 0.95
Recurrent inversion events at 17q21.31 microdeletion locus are linked to the MAPT H2 haplotype. Cytogenet Genome Res (2010) 0.93
Nucleotide, cytogenetic and expression impact of the human chromosome 8p23.1 inversion polymorphism. PLoS One (2009) 0.92
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Detection of chromosomal breakpoints in patients with developmental delay and speech disorders. PLoS One (2014) 0.92
Common inversion polymorphism at 17q21.31 affects expression of multiple genes in tissue-specific manner. BMC Genomics (2012) 0.91
Long-range, high-throughput haplotype determination via haplotype-fusion PCR and ligation haplotyping. Nucleic Acids Res (2008) 0.90
Low-copy repeats at the human VIPR2 gene predispose to recurrent and nonrecurrent rearrangements. Eur J Hum Genet (2012) 0.88
Following the footprints of polymorphic inversions on SNP data: from detection to association tests. Nucleic Acids Res (2015) 0.87
No significantly increased frequency of the inversion polymorphism at the WBS-critical region 7q11.23 in German parents of patients with Williams-Beuren syndrome as compared to a population control. Mol Cytogenet (2010) 0.86
The effect of inversion at 8p23 on BLK association with lupus in Caucasian population. PLoS One (2014) 0.86
X-linked deafness-2 (DFNX2) phenotype associated with a paracentric inversion upstream of POU3F4. Am J Audiol (2014) 0.85
On the structural plasticity of the human genome: chromosomal inversions revisited. Curr Genomics (2012) 0.82
Investigation of the origins of human autosomal inversions. Hum Genet (2008) 0.82
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The foldback-like transposon Galileo is involved in the generation of two different natural chromosomal inversions of Drosophila buzzatii. Mol Biol Evol (2003) 1.36
Standard and generalized McDonald-Kreitman test: a website to detect selection by comparing different classes of DNA sites. Nucleic Acids Res (2008) 1.34
The chromosomal polymorphism linked to variation in social behavior in the white-throated sparrow (Zonotrichia albicollis) is a complex rearrangement and suppressor of recombination. Genetics (2008) 1.32
Silencing of a gene adjacent to the breakpoint of a widespread Drosophila inversion by a transposon-induced antisense RNA. Proc Natl Acad Sci U S A (2004) 1.12
InvFEST, a database integrating information of polymorphic inversions in the human genome. Nucleic Acids Res (2013) 1.03
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Identification of polymorphic inversions from genotypes. BMC Bioinformatics (2012) 0.99
The transposon Galileo generates natural chromosomal inversions in Drosophila by ectopic recombination. PLoS One (2009) 0.99
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Probe-specific mixed-model approach to detect copy number differences using multiplex ligation-dependent probe amplification (MLPA). BMC Bioinformatics (2008) 0.97
Molecular characterization and chromosomal distribution of Galileo, Kepler and Newton, three foldback transposable elements of the Drosophila buzzatii species complex. Genetics (2005) 0.94
Brain response to traumatic brain injury in wild-type and interleukin-6 knockout mice: a microarray analysis. J Neurochem (2005) 0.93
Novel UBE3A mutations causing Angelman syndrome: different parental origin for single nucleotide changes and multiple nucleotide deletions or insertions. Am J Med Genet A (2009) 0.93
Characterization and evolution of the novel gene family FAM90A in primates originated by multiple duplication and rearrangement events. Hum Mol Genet (2007) 0.92
Identification of copy number variants defining genomic differences among major human groups. PLoS One (2009) 0.89
Imprinting center analysis in Prader-Willi and Angelman syndrome patients with typical and atypical phenotypes. Eur J Med Genet (2006) 0.89
The Foldback-like element Galileo belongs to the P superfamily of DNA transposons and is widespread within the Drosophila genus. Proc Natl Acad Sci U S A (2008) 0.89
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A new split of the Hox gene complex in Drosophila: relocation and evolution of the gene labial. Mol Biol Evol (2003) 0.85
PeSV-Fisher: identification of somatic and non-somatic structural variants using next generation sequencing data. PLoS One (2013) 0.85
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ProSeeK: a web server for MLPA probe design. BMC Genomics (2008) 0.83
MLPAstats: an R GUI package for the integrated analysis of copy number alterations using MLPA data. BMC Bioinformatics (2011) 0.81
Striking structural dynamism and nucleotide sequence variation of the transposon Galileo in the genome of Drosophila mojavensis. Mob DNA (2013) 0.81
On the power and the systematic biases of the detection of chromosomal inversions by paired-end genome sequencing. PLoS One (2013) 0.81
Detecting genetic variation in microarray expression data. Genome Res (2007) 0.80
Variants in SNAP25 are targets of natural selection and influence verbal performances in women. Cell Mol Life Sci (2011) 0.80
Novel roles for metallothionein-I + II (MT-I + II) in defense responses, neurogenesis, and tissue restoration after traumatic brain injury: insights from global gene expression profiling in wild-type and MT-I + II knockout mice. J Neurosci Res (2006) 0.78
Protein polymorphism is negatively correlated with conservation of intronic sequences and complexity of expression patterns in Drosophila melanogaster. J Mol Evol (2007) 0.78
Long-standing balancing selection in the THBS4 gene: influence on sex-specific brain expression and gray matter volumes in Alzheimer disease. Hum Mutat (2013) 0.77
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Population genetic analysis of bi-allelic structural variants from low-coverage sequence data with an expectation-maximization algorithm. BMC Bioinformatics (2014) 0.76
A common 56-kilobase deletion in a primate-specific segmental duplication creates a novel butyrophilin-like protein. BMC Genet (2013) 0.76
Worldwide population distribution of the common LCE3C-LCE3B deletion associated with psoriasis and other autoimmune disorders. BMC Genomics (2013) 0.75
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