Published in Genomics on July 01, 2004
Is mammalian chromosomal evolution driven by regions of genome fragility? Genome Biol (2006) 1.54
CGG-repeat expansion in the DIP2B gene is associated with the fragile site FRA12A on chromosome 12q13.1. Am J Hum Genet (2006) 1.01
Are common fragile sites merely structural domains or highly organized "functional" units susceptible to oncogenic stress? Cell Mol Life Sci (2014) 0.90
Genome position and gene amplification. Genome Biol (2007) 0.89
Genome-wide association study (GWAS) for growth rate and age at sexual maturation in Atlantic salmon (Salmo salar). PLoS One (2015) 0.89
Role of DNA secondary structures in fragile site breakage along human chromosome 10. Hum Mol Genet (2013) 0.85
FRA2A is a CGG repeat expansion associated with silencing of AFF3. PLoS Genet (2014) 0.82
The role of DNA damage response pathways in chromosome fragility in Fragile X syndrome. Nucleic Acids Res (2009) 0.82
LGI1 microdeletion in autosomal dominant lateral temporal epilepsy. Neurology (2012) 0.81
Chromatin changes in the development and pathology of the Fragile X-associated disorders and Friedreich ataxia. Biochim Biophys Acta (2012) 0.80
DNA Methylation Patterns in Cord Blood of Neonates Across Gestational Age: Association With Cell-Type Proportions. Nurs Res (2017) 0.77
Maintaining the unmethylated state. Clin Epigenetics (2013) 0.75
Biological, clinical and population relevance of 95 loci for blood lipids. Nature (2010) 28.21
Relative impact of nucleotide and copy number variation on gene expression phenotypes. Science (2007) 23.38
Six new loci associated with body mass index highlight a neuronal influence on body weight regulation. Nat Genet (2008) 22.35
Signatures of mutational processes in human cancer. Nature (2013) 21.63
Genome-wide associations of gene expression variation in humans. PLoS Genet (2005) 17.27
Genome-wide association analysis identifies 20 loci that influence adult height. Nat Genet (2008) 16.92
Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease. Nat Genet (2009) 15.15
Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease. Nat Genet (2011) 9.23
A genotype calling algorithm for the Illumina BeadArray platform. Bioinformatics (2007) 8.03
A biologic definition of Burkitt's lymphoma from transcriptional and genomic profiling. N Engl J Med (2006) 7.42
Genome-wide association study identifies genes for biomarkers of cardiovascular disease: serum urate and dyslipidemia. Am J Hum Genet (2008) 7.33
The DNA sequence of the human X chromosome. Nature (2005) 6.97
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nat Genet (2010) 6.62
LDL-cholesterol concentrations: a genome-wide association study. Lancet (2008) 6.44
Microbial exposure during early life has persistent effects on natural killer T cell function. Science (2012) 5.90
Accurate and reliable high-throughput detection of copy number variation in the human genome. Genome Res (2006) 5.50
Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies. Nat Genet (2009) 5.32
Disruption of neurexin 1 associated with autism spectrum disorder. Am J Hum Genet (2008) 5.04
Genetic variants influencing circulating lipid levels and risk of coronary artery disease. Arterioscler Thromb Vasc Biol (2010) 4.08
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. Nat Genet (2010) 3.82
Changes in the pattern of DNA methylation associate with twin discordance in systemic lupus erythematosus. Genome Res (2009) 3.81
Deregulated expression of cytokine receptor gene, CRLF2, is involved in lymphoid transformation in B-cell precursor acute lymphoblastic leukemia. Blood (2009) 3.50
Bayesian refinement of association signals for 14 loci in 3 common diseases. Nat Genet (2012) 3.31
BLUEPRINT to decode the epigenetic signature written in blood. Nat Biotechnol (2012) 3.24
Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals. PLoS Genet (2012) 3.21
Double-hit B-cell lymphomas. Blood (2010) 3.19
Synergy between PI3K signaling and MYC in Burkitt lymphomagenesis. Cancer Cell (2012) 3.10
Genetic variation in LIN28B is associated with the timing of puberty. Nat Genet (2009) 3.09
MYC status in concert with BCL2 and BCL6 expression predicts outcome in diffuse large B-cell lymphoma. Blood (2013) 3.03
Variants near DMRT1, TERT and ATF7IP are associated with testicular germ cell cancer. Nat Genet (2010) 2.99
Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy. Nat Genet (2002) 2.86
TNFAIP3 (A20) is a tumor suppressor gene in Hodgkin lymphoma and primary mediastinal B cell lymphoma. J Exp Med (2009) 2.80
Collaborative meta-analysis: associations of 150 candidate genes with osteoporosis and osteoporotic fracture. Ann Intern Med (2009) 2.80
A genome-wide association study of testicular germ cell tumor. Nat Genet (2009) 2.79
Nonbone marrow-derived circulating progenitor cells contribute to postnatal neovascularization following tissue ischemia. Circ Res (2007) 2.71
Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer. Nature (2012) 2.66
Mutations in the LGI1/Epitempin gene on 10q24 cause autosomal dominant lateral temporal epilepsy. Hum Mol Genet (2002) 2.65
Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair. Nat Genet (2009) 2.57
FCGR3 variants and expression of human neutrophil antigen-1a, -1b, and -1c in the populations of northern Germany and Uganda. Transfusion (2002) 2.52
Genetic variation near the hepatocyte nuclear factor-4 alpha gene predicts susceptibility to type 2 diabetes. Diabetes (2004) 2.43
Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation. Nat Genet (2007) 2.35
FISH analysis for the detection of lymphoma-associated chromosomal abnormalities in routine paraffin-embedded tissue. J Mol Diagn (2006) 2.28
Lymphomas with concurrent BCL2 and MYC translocations: the critical factors associated with survival. Blood (2009) 2.22
Cyclin D1-negative mantle cell lymphoma: a clinicopathologic study based on gene expression profiling. Blood (2005) 2.19
Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum. Nat Genet (2008) 2.16
A DNA methylation fingerprint of 1628 human samples. Genome Res (2011) 2.16
High-throughput genotyping of Salmonella enterica serovar Typhi allowing geographical assignment of haplotypes and pathotypes within an urban District of Jakarta, Indonesia. J Clin Microbiol (2008) 2.14
Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways. Nat Genet (2012) 2.12
Homozygous deletions localize novel tumor suppressor genes in B-cell lymphomas. Blood (2006) 2.10
Recurrent mutation of the ID3 gene in Burkitt lymphoma identified by integrated genome, exome and transcriptome sequencing. Nat Genet (2012) 2.07
ALK-positive diffuse large B-cell lymphoma is associated with Clathrin-ALK rearrangements: report of 6 cases. Blood (2003) 2.05
Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation. Am J Hum Genet (2004) 2.04
Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation. Am J Hum Genet (2003) 2.03
Reelin regulates cadherin function via Dab1/Rap1 to control neuronal migration and lamination in the neocortex. Neuron (2011) 2.02
Landscape of somatic mutations and clonal evolution in mantle cell lymphoma. Proc Natl Acad Sci U S A (2013) 2.00
New insights into the biology and origin of mature aggressive B-cell lymphomas by combined epigenomic, genomic, and transcriptional profiling. Blood (2008) 1.97
Insights into the evolution of the nucleolus by an analysis of its protein domain repertoire. Bioessays (2004) 1.96
Epigenetic silencing of the tumor suppressor microRNA Hsa-miR-124a regulates CDK6 expression and confers a poor prognosis in acute lymphoblastic leukemia. Cancer Res (2009) 1.95
X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment. Nat Genet (2008) 1.95
Aberrant immunoglobulin class switch recombination and switch translocations in activated B cell-like diffuse large B cell lymphoma. J Exp Med (2007) 1.94
Derepression of an endogenous long terminal repeat activates the CSF1R proto-oncogene in human lymphoma. Nat Med (2010) 1.93
PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome. Am J Hum Genet (2012) 1.91
Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. Am J Hum Genet (2004) 1.88
Fine mapping of the 1p36 deletion syndrome identifies mutation of PRDM16 as a cause of cardiomyopathy. Am J Hum Genet (2013) 1.87
Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome. Am J Hum Genet (2010) 1.83
Mutation status of the residual ATM allele is an important determinant of the cellular response to chemotherapy and survival in patients with chronic lymphocytic leukemia containing an 11q deletion. J Clin Oncol (2007) 1.82
High-resolution genomic analysis suggests the absence of recurrent genomic alterations other than SMARCB1 aberrations in atypical teratoid/rhabdoid tumors. Genes Chromosomes Cancer (2012) 1.82
Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation. Am J Hum Genet (2008) 1.80
Detection of genomic imbalances in microdissected Hodgkin and Reed-Sternberg cells of classical Hodgkin's lymphoma by array-based comparative genomic hybridization. Haematologica (2008) 1.80
CCND2 rearrangements are the most frequent genetic events in cyclin D1(-) mantle cell lymphoma. Blood (2012) 1.79
Cellular source and mechanisms of high transcriptome complexity in the mammalian testis. Cell Rep (2013) 1.79
Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations. J Med Genet (2006) 1.79
Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation. Am J Hum Genet (2004) 1.78
Fate-restricted neural progenitors in the mammalian cerebral cortex. Science (2012) 1.77
Five members of the CEBP transcription factor family are targeted by recurrent IGH translocations in B-cell precursor acute lymphoblastic leukemia (BCP-ALL). Blood (2006) 1.74
The chromatin-remodeling protein ATRX is critical for neuronal survival during corticogenesis. J Clin Invest (2005) 1.74
Variable frequencies of t(11;18)(q21;q21) in MALT lymphomas of different sites: significant association with CagA strains of H pylori in gastric MALT lymphoma. Blood (2003) 1.73
A restricted spectrum of NRAS mutations causes Noonan syndrome. Nat Genet (2009) 1.71