Published in Annu Rev Genet on January 01, 2000
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The population genetics of structural variation. Nat Genet (2007) 3.07
Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients. Am J Hum Genet (2003) 3.01
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Recombination between palindromes P5 and P1 on the human Y chromosome causes massive deletions and spermatogenic failure. Am J Hum Genet (2002) 1.81
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How homologous recombination generates a mutable genome. Hum Genomics (2005) 1.67
The evolutionary chromosome translocation 4;19 in Gorilla gorilla is associated with microduplication of the chromosome fragment syntenic to sequences surrounding the human proximal CMT1A-REP. Genome Res (2001) 1.64
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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
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Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome region. Hum Mol Genet (2009) 1.04
Gene copy number variation throughout the Plasmodium falciparum genome. BMC Genomics (2009) 1.03
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Two sequential cleavage reactions on cruciform DNA structures cause palindrome-mediated chromosomal translocations. Nat Commun (2013) 1.01
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Evidence for widespread reticulate evolution within human duplicons. Am J Hum Genet (2005) 0.98
The constitutional t(11;22): implications for a novel mechanism responsible for gross chromosomal rearrangements. Clin Genet (2010) 0.97
DNA copy number evolution in Drosophila cell lines. Genome Biol (2014) 0.97
The meiotic bouquet promotes homolog interactions and restricts ectopic recombination in Schizosaccharomyces pombe. Genetics (2006) 0.96
Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities. Am J Hum Genet (2010) 0.95
Satellite III sequences on 14p and their relevance to Robertsonian translocation formation. Chromosome Res (2001) 0.93
Derivative chromosome 1 and GLUT1 deficiency syndrome in a sibling pair. Mol Cytogenet (2010) 0.92
Testing chromosomal phylogenies and inversion breakpoint reuse in Drosophila. Genetics (2006) 0.91
The mechanism of expansion and the volatility it created in three pheromone gene clusters in the mouse (Mus musculus) genome. Genome Biol Evol (2009) 0.91
Mouse chromosome engineering for modeling human disease. Annu Rev Genomics Hum Genet (2006) 0.90
Mouse models of genomic syndromes as tools for understanding the basis of complex traits: an example with the smith-magenis and the potocki-lupski syndromes. Curr Genomics (2009) 0.90
Monosomy 1p36 breakpoints indicate repetitive DNA sequence elements may be involved in generating and/or stabilizing some terminal deletions. Chromosome Res (2004) 0.89
Malignant transformation potentials of human umbilical cord mesenchymal stem cells both spontaneously and via 3-methycholanthrene induction. PLoS One (2013) 0.89
Preferential paternal origin of microdeletions caused by prezygotic chromosome or chromatid rearrangements in Sotos syndrome. Am J Hum Genet (2003) 0.88
Cortical mapping of genotype-phenotype relationships in schizophrenia. Hum Brain Mapp (2007) 0.87
Sixteen New Cases Contributing to the Characterization of Patients with Distal 22q11.2 Microduplications. Mol Syndromol (2011) 0.87
Detection of 1p36 deletion by clinical exome-first diagnostic approach. Hum Genome Var (2016) 0.86
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Identification of critical regions and candidate genes for cardiovascular malformations and cardiomyopathy associated with deletions of chromosome 1p36. PLoS One (2014) 0.85
Characterization of a complex rearrangement with interstitial deletions and inversion on human chromosome 1. Chromosome Res (2006) 0.85
Evolution versus constitution: differences in chromosomal inversion. Hum Genet (2005) 0.83
Investigation of genetic factors underlying typical orofacial clefts: mutational screening and copy number variation. J Hum Genet (2014) 0.81
A deficiency in the region homologous to human 17q21.33-q23.2 causes heart defects in mice. Genetics (2006) 0.81
DNA secondary structure is influenced by genetic variation and alters susceptibility to de novo translocation. Mol Cytogenet (2011) 0.79
DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype Correlations. PLoS One (2015) 0.79
Highly comprehensive karyotype analysis by a combination of spectral karyotyping (SKY), microdissection, and reverse painting (SKY-MD). Chromosome Res (2001) 0.79
Plasmodium copy number variation scan: gene copy numbers evaluation in haploid genomes. Malar J (2016) 0.79
De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions. Am J Hum Genet (2016) 0.78
Screening of subtelomeric rearrangements in 100 Korean Pediatric patients with unexplained mental retardation and anomalies using subtelomeric FISH (fluorescence in situ hybridization). J Korean Med Sci (2008) 0.77
Array comparative genomic hybridisation-based identification of two imbalances of chromosome 1p in a 9-year-old girl with a monosomy 1p36 related phenotype and a family history of learning difficulties: a case report. J Med Case Rep (2008) 0.76
The rate of nonallelic homologous recombination in males is highly variable, correlated between monozygotic twins and independent of age. PLoS Genet (2014) 0.76
Disorders caused by chromosome abnormalities. Appl Clin Genet (2010) 0.76
An economic analysis of prenatal cytogenetic technologies for sonographically detected fetal anomalies. Am J Med Genet A (2014) 0.75
Isochromosome 13 in a patient with childhood-onset schizophrenia, ADHD, and motor tic disorder. Mol Cytogenet (2012) 0.75
1p36 deletion syndrome confirmed by fluorescence in situ hybridization and array-comparative genomic hybridization analysis. Korean J Pediatr (2016) 0.75
Clinical and Molecular Cytogenetic Characterisation of Children with Developmental Delay and Dysmorphic Features. Zdr Varst (2015) 0.75
2002 Curt Stern Award address. Introductory speech for James R. Lupski. Am J Hum Genet (2003) 0.75
Genome wide array-CGH and qPCR analysis for the identification of genome defects in Williams' syndrome patients in Saudi Arabia. Mol Cytogenet (2016) 0.75
Molecular characterization of the mouse In(10)17Rk inversion and identification of a novel muscle-specific gene at the proximal breakpoint. Genetics (2002) 0.75
Design, Construction and Validation of Targeted BAC Array-Based CGH Test for Detecting the Most Commons Chromosomal Abnormalities. Genomics Insights (2010) 0.75
FRA18C: a new aphidicolin-inducible fragile site on chromosome 18q22, possibly associated with in vivo chromosome breakage. J Med Genet (2007) 0.75
Unraveling the genetic architecture of copy number variants associated with schizophrenia and other neuropsychiatric disorders. J Neurosci Res (2016) 0.75
Concurrence of ring 21 and trisomy 21 in children of normal parents. Yonsei Med J (2005) 0.75
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A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Nat Genet (1997) 10.93
Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. Science (1997) 6.00
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Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome. Nat Genet (1997) 4.15
Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion. Nat Genet (2000) 3.80
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A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element. Nat Genet (1996) 3.45
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Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders. J Med Genet (2009) 2.13
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