Published in Genes Chromosomes Cancer on June 01, 2003
High frequency of mosaicism among patients with neurofibromatosis type 1 (NF1) with microdeletions caused by somatic recombination of the JJAZ1 gene. Am J Hum Genet (2004) 1.47
A direct interaction between the Utp6 half-a-tetratricopeptide repeat domain and a specific peptide in Utp21 is essential for efficient pre-rRNA processing. Mol Cell Biol (2008) 1.30
REUL is a novel E3 ubiquitin ligase and stimulator of retinoic-acid-inducible gene-I. PLoS One (2009) 1.28
DNA damage responses by human ELG1 in S phase are important to maintain genomic integrity. Cell Cycle (2009) 1.18
Identification of novel deletion breakpoints bordered by segmental duplications in the NF1 locus using high resolution array-CGH. J Med Genet (2005) 1.06
Identification of genes potentially involved in the increased risk of malignancy in NF1-microdeleted patients. Mol Med (2010) 1.03
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
Extensively high load of internal tumors determined by whole body MRI scanning in a patient with neurofibromatosis type 1 and a non-LCR-mediated 2-Mb deletion in 17q11.2. Hum Genet (2005) 0.94
Evidence for non-homologous end joining and non-allelic homologous recombination in atypical NF1 microdeletions. Hum Genet (2004) 0.93
Connective tissue dysplasia in five new patients with NF1 microdeletions: further expansion of phenotype and review of the literature. J Med Genet (2006) 0.93
Suppression of gross chromosomal rearrangements by a new alternative replication factor C complex. Biochem Biophys Res Commun (2007) 0.92
Genetic variability in a genomic region with long-range linkage disequilibrium reveals traces of a bottleneck in the history of the European population. Hum Genet (2005) 0.91
Expression analysis of genes lying in the NF1 microdeletion interval points to four candidate modifiers for neurofibroma formation. Neurogenetics (2008) 0.85
An emerging role for microRNAs in NF1 tumorigenesis. Hum Genomics (2012) 0.77
Emerging genotype-phenotype relationships in patients with large NF1 deletions. Hum Genet (2017) 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
Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project. Nature (2007) 75.09
Comprehensive mapping of long-range interactions reveals folding principles of the human genome. Science (2009) 29.83
The accessible chromatin landscape of the human genome. Nature (2012) 16.86
Evolutionary and biomedical insights from the rhesus macaque genome. Science (2007) 16.21
Genome-scale mapping of DNase I sensitivity in vivo using tiling DNA microarrays. Nat Methods (2006) 8.52
Sequencing newly replicated DNA reveals widespread plasticity in human replication timing. Proc Natl Acad Sci U S A (2009) 4.76
Comprehensive epigenetic profiling identifies multiple distal regulatory elements directing transcription of the gene encoding interferon-gamma. Nat Immunol (2007) 3.72
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. Nat Genet (2013) 3.64
Discovery of functional noncoding elements by digital analysis of chromatin structure. Proc Natl Acad Sci U S A (2004) 3.59
Genome-wide identification of DNaseI hypersensitive sites using active chromatin sequence libraries. Proc Natl Acad Sci U S A (2004) 2.94
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
Phacomatosis pigmentokeratotica is caused by a postzygotic HRAS mutation in a multipotent progenitor cell. J Invest Dermatol (2013) 2.31
SHARP is a novel component of the Notch/RBP-Jkappa signalling pathway. EMBO J (2002) 2.26
CCCTC-binding factor and the transcription factor T-bet orchestrate T helper 1 cell-specific structure and function at the interferon-gamma locus. Immunity (2009) 2.24
Conservation of hotspots for recombination in low-copy repeats associated with the NF1 microdeletion. Nat Genet (2006) 2.11
Wnt signaling and Dupuytren's disease. N Engl J Med (2011) 2.02
Shprintzen-Goldberg syndrome: fourteen new patients and a clinical analysis. Am J Med Genet A (2005) 1.91
Genomic rearrangements in inherited disease and cancer. Semin Cancer Biol (2010) 1.72
Oct4 dependence of chromatin structure within the extended Nanog locus in ES cells. Genes Dev (2008) 1.68
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
Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2. Proc Natl Acad Sci U S A (2003) 1.52
Dyschromatosis universalis hereditaria: familial case and ultrastructural skin investigation. Am J Med Genet A (2004) 1.43
Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies. PLoS One (2013) 1.40
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
Macrocephalic mental retardation associated with a novel C-terminal MECP2 frameshift deletion. Eur J Pediatr (2004) 1.39
Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome. Am J Hum Genet (2012) 1.38
A misplaced lncRNA causes brachydactyly in humans. J Clin Invest (2012) 1.36
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
Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1. BMC Med Genet (2011) 1.24
Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome. Eur J Hum Genet (2003) 1.23
A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling. Hum Mol Genet (2013) 1.22
Support for the N-methyl-D-aspartate receptor hypofunction hypothesis of schizophrenia from exome sequencing in multiplex families. JAMA Psychiatry (2013) 1.21
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
Novel mutations in BCOR in three patients with oculo-facio-cardio-dental syndrome, but none in Lenz microphthalmia syndrome. Eur J Hum Genet (2005) 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
Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS). Hum Mutat (2005) 1.17
The zebrafish mutant gene chardonnay (cdy) encodes divalent metal transporter 1 (DMT1). Blood (2002) 1.16
Two brothers with findings resembling congenital intrauterine infection-like syndrome (pseudo-TORCH syndrome). Am J Med Genet A (2003) 1.16
Mosaic type-1 NF1 microdeletions as a cause of both generalized and segmental neurofibromatosis type-1 (NF1). Hum Mutat (2011) 1.14
Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes. Eur J Hum Genet (2003) 1.14
A cis-regulatory site downregulates PTHLH in translocation t(8;12)(q13;p11.2) and leads to Brachydactyly Type E. Hum Mol Genet (2009) 1.13
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
Dissecting loss of heterozygosity (LOH) in neurofibromatosis type 1-associated neurofibromas: Importance of copy neutral LOH. Hum Mutat (2011) 1.01
Homozygous PMS2 germline mutations in two families with early-onset haematological malignancy, brain tumours, HNPCC-associated tumours, and signs of neurofibromatosis type 1. Eur J Hum Genet (2007) 1.00
Refining the structure and content of clinical genomic reports. Am J Med Genet C Semin Med Genet (2014) 1.00
Dissecting the molecular mechanisms in craniofrontonasal syndrome: differential mRNA expression of mutant EFNB1 and the cellular mosaic. Eur J Hum Genet (2007) 1.00
Identification of large-scale human-specific copy number differences by inter-species array comparative genomic hybridization. Hum Genet (2006) 0.99
Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium. Am J Hum Genet (2016) 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
Segmental duplication associated with the human-specific inversion of chromosome 18: a further example of the impact of segmental duplications on karyotype and genome evolution in primates. Hum Genet (2004) 0.98
Diagnosis of five spinocerebellar ataxia disorders by multiplex amplification and capillary electrophoresis. J Mol Diagn (2002) 0.96
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
Compound heterozygosity for two MSH6 mutations in a patient with early onset of HNPCC-associated cancers, but without hematological malignancy and brain tumor. Eur J Hum Genet (2006) 0.94
A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts. Am J Hum Genet (2010) 0.93
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
Molecular diagnosis of subcutaneous Pythium insidiosum infection by use of PCR screening and DNA sequencing. J Clin Microbiol (2012) 0.92
A novel germline KIT mutation (p.L576P) in a family presenting with juvenile onset of multiple gastrointestinal stromal tumors, skin hyperpigmentations, and esophageal stenosis. Am J Surg Pathol (2013) 0.92
Homozygous loss of CHRNA7 on chromosome 15q13.3 causes severe encephalopathy with seizures and hypotonia. Am J Med Genet A (2010) 0.92
Monozygotic twins discordant for neurofibromatosis type 1 due to a postzygotic NF1 gene mutation. Hum Mutat (2011) 0.91
Three novel mutations in the ANK membrane protein cause craniometaphyseal dysplasia with variable conductive hearing loss. Am J Med Genet A (2010) 0.90
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
Czech dysplasia: report of a large family and further delineation of the phenotype. Am J Med Genet A (2008) 0.88
High-level somatic mosaicism of AKT1 c.49G>A mutation in skin scrapings from epidermal nevi enables non-invasive molecular diagnosis in patients with Proteus syndrome. Am J Med Genet A (2013) 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
Segmental neurofibromatosis. Dermatology (2002) 0.87
Payment for obesity services: examples and recommendations for stage 3 comprehensive multidisciplinary intervention programs for children and adolescents. Pediatrics (2011) 0.86
De novo microdeletions of chromosome 6q14.1-q14.3 and 6q12.1-q14.1 in two patients with intellectual disability - further delineation of the 6q14 microdeletion syndrome and review of the literature. Eur J Med Genet (2012) 0.85
Elucidation of the complex structure and origin of the human trypsinogen locus triplication. Hum Mol Genet (2009) 0.85
Triangulation of the human, chimpanzee, and Neanderthal genome sequences identifies potentially compensated mutations. Hum Mutat (2010) 0.85
Differential MSH2 promoter methylation in blood cells of Neurofibromatosis type 1 (NF1) patients. Eur J Hum Genet (2010) 0.85
An isochore transition zone in the NF1 gene region is a conserved landmark of chromosome structure and function. Genomics (2005) 0.85
Plexiform-like neurofibromas develop in the mouse by intraneural xenograft of an NF1 tumor-derived Schwann cell line. J Neurosci Res (2007) 0.85
Expression pattern of the Rsk2, Rsk4 and Pdk1 genes during murine embryogenesis. Gene Expr Patterns (2003) 0.84