Published in Hum Genet on May 07, 2004
A high-coverage genome sequence from an archaic Denisovan individual. Science (2012) 7.89
A genome-wide survey of structural variation between human and chimpanzee. Genome Res (2005) 2.61
Principles of genome evolution in the Drosophila melanogaster species group. PLoS Biol (2007) 1.89
Serial segmental duplications during primate evolution result in complex human genome architecture. Genome Res (2004) 1.78
Gene synteny comparisons between different vertebrates provide new insights into breakage and fusion events during mammalian karyotype evolution. BMC Evol Biol (2009) 1.40
Complex patterns of copy number variation at sites of segmental duplications: an important category of structural variation in the human genome. Hum Genet (2006) 1.33
Molecular mechanisms of chromosomal rearrangement during primate evolution. Chromosome Res (2008) 1.22
A high-resolution map of synteny disruptions in gibbon and human genomes. PLoS Genet (2006) 1.13
Genome landscape and evolutionary plasticity of chromosomes in malaria mosquitoes. PLoS One (2010) 1.07
Structural divergence between the human and chimpanzee genomes. Hum Genet (2006) 1.01
Identification of large-scale human-specific copy number differences by inter-species array comparative genomic hybridization. Hum Genet (2006) 0.99
Independent intrachromosomal recombination events underlie the pericentric inversions of chimpanzee and gorilla chromosomes homologous to human chromosome 16. Genome Res (2005) 0.98
Polymorphic micro-inversions contribute to the genomic variability of humans and chimpanzees. Hum Genet (2005) 0.92
On the association between chromosomal rearrangements and genic evolution in humans and chimpanzees. Genome Biol (2007) 0.92
Characterization of the human lineage-specific pericentric inversion that distinguishes human chromosome 1 from the homologous chromosomes of the great apes. Hum Genet (2006) 0.88
Evolution versus constitution: differences in chromosomal inversion. Hum Genet (2005) 0.83
Molecular distinction between true centric fission and pericentric duplication-fission. Hum Genet (2005) 0.82
Molecular characterisation of the pericentric inversion that distinguishes human chromosome 5 from the homologous chimpanzee chromosome. Hum Genet (2005) 0.80
Construction, characterization, and chromosomal mapping of a fosmid library of the white-cheeked gibbon (Nomascus leucogenys). Genomics Proteomics Bioinformatics (2007) 0.79
Assessing the role of tandem repeats in shaping the genomic architecture of great apes. PLoS One (2011) 0.79
The genomic distribution of intraspecific and interspecific sequence divergence of human segmental duplications relative to human/chimpanzee chromosomal rearrangements. BMC Genomics (2008) 0.77
Testing chromosomal phylogenies and inversion breakpoint reuse in Drosophila. The martensis cluster revisited. Chromosome Res (2011) 0.76
Little ROCK is a ROCK1 pseudogene expressed in human smooth muscle cells. BMC Genet (2010) 0.75
Genome architecture, rearrangements and genomic disorders. Trends Genet (2002) 12.26
Intra- and interspecific variation in primate gene expression patterns. Science (2002) 7.92
Estimation of primate speciation dates using local molecular clocks. Mol Biol Evol (2000) 5.06
Elevated gene expression levels distinguish human from non-human primate brains. Proc Natl Acad Sci U S A (2003) 4.69
Segmental duplications and the evolution of the primate genome. Nat Rev Genet (2002) 4.16
The origin of man: a chromosomal pictorial legacy. Science (1982) 4.02
Selection on human genes as revealed by comparisons to chimpanzee cDNA. Genome Res (2003) 2.48
Comparative analysis of gene-expression patterns in human and African great ape cultured fibroblasts. Genome Res (2003) 1.92
Refinement of a chimpanzee pericentric inversion breakpoint to a segmental duplication cluster. Genome Biol (2003) 1.65
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
Genomic structure and evolution of the ancestral chromosome fusion site in 2q13-2q14.1 and paralogous regions on other human chromosomes. Genome Res (2002) 1.35
Molecular characterization of the pericentric inversion that causes differences between chimpanzee chromosome 19 and human chromosome 17. Am J Hum Genet (2002) 1.19
Inversion, duplication, and changes in gene context are associated with human chromosome 18 evolution. Genomics (2004) 0.96
The origin of human chromosome 18 from a human/ape ancestor. Cytogenet Cell Genet (1997) 0.79
Evolutionary and biomedical insights from the rhesus macaque genome. Science (2007) 16.21
Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics. Hum Mutat (2010) 2.67
Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease. Hum Genet (2013) 2.44
SHARP is a novel component of the Notch/RBP-Jkappa signalling pathway. EMBO J (2002) 2.26
Conservation of hotspots for recombination in low-copy repeats associated with the NF1 microdeletion. Nat Genet (2006) 2.11
Genomic rearrangements in inherited disease and cancer. Semin Cancer Biol (2010) 1.72
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
Gene synteny comparisons between different vertebrates provide new insights into breakage and fusion events during mammalian karyotype evolution. BMC Evol Biol (2009) 1.40
Wide genome comparisons reveal the origins of the human X chromosome. Trends Genet (2004) 1.39
Screening 500 unselected neurofibromatosis 1 patients for deletions of the NF1 gene. Hum Mutat (2004) 1.34
Complex patterns of copy number variation at sites of segmental duplications: an important category of structural variation in the human genome. Hum Genet (2006) 1.33
Reconstruction of a 450-My-old ancestral vertebrate protokaryotype. Trends Genet (2006) 1.29
Molecular cytogenetic analysis of a familial interstitial deletion Xp22.2-22.3 with a highly variable phenotype in female carriers. Am J Med Genet A (2006) 1.19
Molecular characterization of the pericentric inversion that causes differences between chimpanzee chromosome 19 and human chromosome 17. Am J Hum Genet (2002) 1.19
Recent assembly of an imprinted domain from non-imprinted components. PLoS Genet (2006) 1.17
Mosaic type-1 NF1 microdeletions as a cause of both generalized and segmental neurofibromatosis type-1 (NF1). Hum Mutat (2011) 1.14
Breakpoint analysis of the pericentric inversion distinguishing human chromosome 4 from the homologous chromosome in the chimpanzee (Pan troglodytes). Hum Mutat (2005) 1.10
Mutation and expression analysis of the KRIT1 gene associated with cerebral cavernous malformations (CCM1). Acta Neuropathol (2002) 1.09
Abnormal organogenesis of Peyer's patches in mice deficient for NF-kappaB1, NF-kappaB2, and Bcl-3. Gastroenterology (2002) 1.09
Evolutionary history and genome organization of DUF1220 protein domains. G3 (Bethesda) (2012) 1.08
Complete physical map and gene content of the human NF1 tumor suppressor region in human and mouse. Genes Chromosomes Cancer (2003) 1.02
Dissecting loss of heterozygosity (LOH) in neurofibromatosis type 1-associated neurofibromas: Importance of copy neutral LOH. Hum Mutat (2011) 1.01
Identification of large-scale human-specific copy number differences by inter-species array comparative genomic hybridization. Hum Genet (2006) 0.99
Independent intrachromosomal recombination events underlie the pericentric inversions of chimpanzee and gorilla chromosomes homologous to human chromosome 16. Genome Res (2005) 0.98
RITA, a novel modulator of Notch signalling, acts via nuclear export of RBP-J. EMBO J (2010) 0.94
Type 2 NF1 deletions are highly unusual by virtue of the absence of nonallelic homologous recombination hotspots and an apparent preference for female mitotic recombination. Am J Hum Genet (2007) 0.94
Exploring the potential relevance of human-specific genes to complex disease. Hum Genomics (2011) 0.93
Polymorphic micro-inversions contribute to the genomic variability of humans and chimpanzees. Hum Genet (2005) 0.92
Monozygotic twins discordant for neurofibromatosis type 1 due to a postzygotic NF1 gene mutation. Hum Mutat (2011) 0.91
Enrichment of brain-related genes on the mammalian X chromosome is ancient and predates the divergence of synapsid and sauropsid lineages. Chromosome Res (2009) 0.90
A gene conversion hotspot in the human growth hormone (GH1) gene promoter. Hum Mutat (2009) 0.90
Cruciform-forming inverted repeats appear to have mediated many of the microinversions that distinguish the human and chimpanzee genomes. Chromosome Res (2009) 0.89
A novel third type of recurrent NF1 microdeletion mediated by nonallelic homologous recombination between LRRC37B-containing low-copy repeats in 17q11.2. Hum Mutat (2010) 0.88
Characterization of the human lineage-specific pericentric inversion that distinguishes human chromosome 1 from the homologous chromosomes of the great apes. Hum Genet (2006) 0.88
Elucidation of the complex structure and origin of the human trypsinogen locus triplication. Hum Mol Genet (2009) 0.85
An isochore transition zone in the NF1 gene region is a conserved landmark of chromosome structure and function. Genomics (2005) 0.85
Triangulation of the human, chimpanzee, and Neanderthal genome sequences identifies potentially compensated mutations. Hum Mutat (2010) 0.85
Expression pattern of the Rsk2, Rsk4 and Pdk1 genes during murine embryogenesis. Gene Expr Patterns (2003) 0.84
Molecular characterization of the pericentric inversion of chimpanzee chromosome 11 homologous to human chromosome 9. Genomics (2005) 0.84
Internal tumor burden in neurofibromatosis Type I patients with large NF1 deletions. Genes Chromosomes Cancer (2012) 0.84
Myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7: corroboration and narrowing of the critical region on 10q22.3. Eur J Hum Genet (2008) 0.84
Molecular characterisation of t(17;22)(q11.2;q11.2) is not consistent with NF1 gene duplication. Hum Genet (2002) 0.83
Functional PMS2 hybrid alleles containing a pseudogene-specific missense variant trace back to a single ancient intrachromosomal recombination event. Hum Mutat (2010) 0.83
Reconstruction of the ancestral ferungulate karyotype by electronic chromosome painting (E-painting). Chromosome Res (2007) 0.83
Murine pancreatic tumor cell line TD2 bears the characteristic pattern of genetic changes with two independently amplified gene loci. Oncogene (2003) 0.83
A comparative expression analysis of four MRX genes regulating intracellular signalling via small GTPases. Eur J Hum Genet (2004) 0.82
Intrachromosomal mitotic nonallelic homologous recombination is the major molecular mechanism underlying type-2 NF1 deletions. Hum Mutat (2010) 0.82
SVA retrotransposon insertion-associated deletion represents a novel mutational mechanism underlying large genomic copy number changes with non-recurrent breakpoints. Genome Biol (2014) 0.82
Analysis of rare APC variants at the mRNA level: six pathogenic mutations and literature review. J Mol Diagn (2009) 0.82
Molecular cytogenetic analysis of a constitutional de novo interstitial deletion of chromosome 12p in a boy with developmental delay and congenital anomalies. Am J Med Genet A (2003) 0.81
Comparative analysis of germline and somatic microlesion mutational spectra in 17 human tumor suppressor genes. Hum Mutat (2011) 0.81
Mechanisms of loss of heterozygosity in neurofibromatosis type 1-associated plexiform neurofibromas. J Invest Dermatol (2008) 0.81
Pattern of secondary genomic changes in pancreatic tumors of Tgf alpha/Trp53+/- transgenic mice. Genes Chromosomes Cancer (2003) 0.81
Copy number variations in the NF1 gene region are infrequent and do not predispose to recurrent type-1 deletions. Eur J Hum Genet (2008) 0.80
Molecular characterisation of the pericentric inversion that distinguishes human chromosome 5 from the homologous chimpanzee chromosome. Hum Genet (2005) 0.80
Proliferation and growth factor expression in abnormally enlarged placentas of mouse interspecific hybrids. Dev Dyn (2002) 0.80
The chimpanzee-specific pericentric inversions that distinguish humans and chimpanzees have identical breakpoints in Pan troglodytes and Pan paniscus. Genomics (2006) 0.79
Copy number variation and disease. Preface. Cytogenet Genome Res (2008) 0.78
Childhood overgrowth in patients with common NF1 microdeletions. Eur J Hum Genet (2005) 0.78
Delineating the Hemostaseome as an aid to individualize the analysis of the hereditary basis of thrombotic and bleeding disorders. Hum Genet (2011) 0.78
Population-specific differences in gene conversion patterns between human SUZ12 and SUZ12P are indicative of the dynamic nature of interparalog gene conversion. Hum Genet (2014) 0.78
Characterization of the nonallelic homologous recombination hotspot PRS3 associated with type-3 NF1 deletions. Hum Mutat (2011) 0.77
Analysis of crossover breakpoints yields new insights into the nature of the gene conversion events associated with large NF1 deletions mediated by nonallelic homologous recombination. Hum Mutat (2013) 0.77
Tissue-specific differences in the proportion of mosaic large NF1 deletions are suggestive of a selective growth advantage of hematopoietic del(+/-) stem cells. Hum Mutat (2012) 0.77
Identification of recurrent type-2 NF1 microdeletions reveals a mitotic nonallelic homologous recombination hotspot underlying a human genomic disorder. Hum Mutat (2012) 0.76
Non-coding RNA ANRIL and the number of plexiform neurofibromas in patients with NF1 microdeletions. BMC Med Genet (2012) 0.76
Molecular cytogenetic characterization of two independent karyotypic anomalies in a patient with severe mental retardation and juvenile idiopathic arthritis. Genomic Med (2007) 0.75
Frequency of cancer genes on the chicken z chromosome and its human homologues: implications for sex chromosome evolution. Comp Funct Genomics (2007) 0.75
Interphase FISH, the structure of reciprocal translocation chromosomes and physical mapping studies rule out the duplication of the NF1 gene at 17q11.2. A reply. Hum Genet (2003) 0.75
Cross-comparison of the genome sequences from human, chimpanzee, Neanderthal and a Denisovan hominin identifies novel potentially compensated mutations. Hum Genomics (2011) 0.75
Whole exome sequencing reveals that the majority of schwannomatosis cases remain unexplained after excluding SMARCB1 and LZTR1 germline variants. Acta Neuropathol (2014) 0.75
Delineation of the clinical phenotype associated with non-mosaic type-2 NF1 deletions: two case reports. J Med Case Rep (2011) 0.75
Extended runs of homozygosity at 17q11.2: an association with type-2 NF1 deletions? Hum Mutat (2010) 0.75
Silver-Russell syndrome-like features in a patient carrying a novel NF1 mutation. Pediatr Res (2005) 0.75
Characterization of Pisrt1/Foxl2 in Ellobius lutescens and exclusion as sex-determining genes. Mamm Genome (2005) 0.75