Published in J Med Genet on November 21, 2012
Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders. Am J Hum Genet (2014) 2.37
Mosaic loss of chromosome Y in peripheral blood is associated with shorter survival and higher risk of cancer. Nat Genet (2014) 1.74
Mutagenesis. Smoking is associated with mosaic loss of chromosome Y. Science (2014) 1.08
Integrating genetics and social science: genetic risk scores. Biodemography Soc Biol (2014) 0.89
Signatures of post-zygotic structural genetic aberrations in the cells of histologically normal breast tissue that can predispose to sporadic breast cancer. Genome Res (2015) 0.80
Mosaicism in health and disease - clones picking up speed. Nat Rev Genet (2016) 0.79
Analysis of Parkinson's disease brain-derived DNA for alpha-synuclein coding somatic mutations. Mov Disord (2014) 0.78
Coherent somatic mutation in autoimmune disease. PLoS One (2014) 0.78
Mosaic Loss of Chromosome Y in Blood Is Associated with Alzheimer Disease. Am J Hum Genet (2016) 0.78
Detection of SQSTM1/P392L post-zygotic mutations in Paget's disease of bone. Hum Genet (2014) 0.77
A new conceptual framework for investigating complex genetic disease. Front Genet (2015) 0.77
Genomic Copy Number Variation Affecting Genes Involved in the Cell Cycle Pathway: Implications for Somatic Mosaicism. Int J Genomics (2015) 0.75
Post-zygotic and inter-individual structural genetic variation in a presumptive enhancer element of the locus between the IL10Rβ and IFNAR1 genes. PLoS One (2013) 0.75
5p13.3p13.2 duplication associated with developmental delay, congenital malformations and chromosome instability manifested as low-level aneuploidy. Springerplus (2015) 0.75
Finding the missing heritability of complex diseases. Nature (2009) 67.95
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Genomic aberrations and survival in chronic lymphocytic leukemia. N Engl J Med (2000) 16.30
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Five years of GWAS discovery. Am J Hum Genet (2012) 12.97
The mystery of missing heritability: Genetic interactions create phantom heritability. Proc Natl Acad Sci U S A (2012) 11.23
Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients. Science (1990) 8.91
Variation in genome-wide mutation rates within and between human families. Nat Genet (2011) 8.84
A mosaic activating mutation in AKT1 associated with the Proteus syndrome. N Engl J Med (2011) 8.26
A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations. Cell (1990) 8.10
Inactivating mutations of the histone methyltransferase gene EZH2 in myeloid disorders. Nat Genet (2010) 7.96
Rate, molecular spectrum, and consequences of human mutation. Proc Natl Acad Sci U S A (2010) 7.07
Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus. Cell (1990) 6.94
Age-related changes in lymphocyte development and function. Nat Immunol (2004) 6.16
Performance comparison of whole-genome sequencing platforms. Nat Biotechnol (2011) 5.79
Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles. Am J Hum Genet (2008) 5.53
Genomic rearrangements and sporadic disease. Nat Genet (2007) 5.28
Human aging-associated DNA hypermethylation occurs preferentially at bivalent chromatin domains. Genome Res (2010) 5.08
Evolution of the mutation rate. Trends Genet (2010) 4.83
The influence of age on T cell generation and TCR diversity. J Immunol (2005) 4.36
Chromosome instability is common in human cleavage-stage embryos. Nat Med (2009) 3.85
De novo mutations in human genetic disease. Nat Rev Genet (2012) 3.81
Detectable clonal mosaicism and its relationship to aging and cancer. Nat Genet (2012) 3.69
Frequent CBL mutations associated with 11q acquired uniparental disomy in myeloproliferative neoplasms. Blood (2009) 3.69
Detectable clonal mosaicism from birth to old age and its relationship to cancer. Nat Genet (2012) 3.68
Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis. Hum Mol Genet (2010) 3.64
Functionally distinct hematopoietic stem cells modulate hematopoietic lineage potential during aging by a mechanism of clonal expansion. Proc Natl Acad Sci U S A (2010) 3.41
Recurrent somatic TET2 mutations in normal elderly individuals with clonal hematopoiesis. Nat Genet (2012) 3.33
Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome. Am J Hum Genet (2012) 3.13
De novo rates and selection of large copy number variation. Genome Res (2010) 3.08
Review and hypotheses: somatic mosaicism: observations related to clinical genetics. Am J Hum Genet (1988) 3.05
Human bone marrow hematopoietic stem cells are increased in frequency and myeloid-biased with age. Proc Natl Acad Sci U S A (2011) 2.96
Mechanisms and consequences of somatic mosaicism in humans. Nat Rev Genet (2002) 2.85
Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome. Nat Genet (2011) 2.74
Unraveling the molecular pathophysiology of myelodysplastic syndromes. J Clin Oncol (2011) 2.69
Chromosome translocations and covert leukemic clones are generated during normal fetal development. Proc Natl Acad Sci U S A (2002) 2.58
Genome-wide analysis of DNA copy number changes and LOH in CLL using high-density SNP arrays. Blood (2006) 2.36
Novel genomic alterations and clonal evolution in chronic lymphocytic leukemia revealed by representational oligonucleotide microarray analysis (ROMA). Blood (2008) 2.35
BAK1 gene variation and abdominal aortic aneurysms. Hum Mutat (2009) 2.34
Somatic mosaicism for copy number variation in differentiated human tissues. Hum Mutat (2008) 2.30
Classification and biological nature of established human hematopoietic cell lines. Int J Cancer (1975) 2.16
Age-related somatic structural changes in the nuclear genome of human blood cells. Am J Hum Genet (2012) 2.15
B-cell diversity decreases in old age and is correlated with poor health status. Aging Cell (2008) 2.15
Telomere lengths are characteristic in each human individual. Exp Gerontol (2002) 2.13
Genomic complexity identifies patients with aggressive chronic lymphocytic leukemia. Blood (2008) 1.93
Detection of low-level mosaicism by array CGH in routine diagnostic specimens. Am J Med Genet A (2006) 1.83
Paternal age effect mutations and selfish spermatogonial selection: causes and consequences for human disease. Am J Hum Genet (2012) 1.78
Cytogenetic features in myelodysplastic syndromes. Ann Hematol (2008) 1.74
The disparity between human cell senescence in vitro and lifelong replication in vivo. Nat Biotechnol (2002) 1.69
Somatic gene mutation and human disease other than cancer: an update. Mutat Res (2010) 1.68
A fascination with chromosome rescue in uniparental disomy: Mendelian recessive outlaws and imprinting copyrights infringements. Eur J Hum Genet (2006) 1.67
Screening for copy-number alterations and loss of heterozygosity in chronic lymphocytic leukemia--a comparative study of four differently designed, high resolution microarray platforms. Genes Chromosomes Cancer (2008) 1.66
In vivo reversion to normal of inherited mutations in humans. J Med Genet (2003) 1.64
Somatic mosaicism and variable expressivity. Trends Genet (2001) 1.64
Somatic mosaicism in Fanconi anemia: evidence of genotypic reversion in lymphohematopoietic stem cells. Proc Natl Acad Sci U S A (2001) 1.62
Stem cells and the aging hematopoietic system. Curr Opin Immunol (2010) 1.60
Prognostic impact of SNP array karyotyping in myelodysplastic syndromes and related myeloid malignancies. Blood (2011) 1.59
Evolution in health and medicine Sackler colloquium: Somatic evolutionary genomics: mutations during development cause highly variable genetic mosaicism with risk of cancer and neurodegeneration. Proc Natl Acad Sci U S A (2009) 1.59
Duplications in the DMD gene. Hum Mutat (2006) 1.58
Advances in the 5q- syndrome. Blood (2010) 1.57
Self-induced correction of the genetic defect in tyrosinemia type I. J Clin Invest (1994) 1.57
Telomere instability in the male germline. Hum Mol Genet (2005) 1.55
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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
Somatic mosaicism in healthy human tissues. Trends Genet (2011) 1.46
Exon structure of the human dystrophin gene. Genomics (1993) 1.45
Complex and segmental uniparental disomy updated. J Med Genet (2008) 1.43
Somatic intragenic recombination within the mutated locus BLM can correct the high sister-chromatid exchange phenotype of Bloom syndrome cells. Am J Hum Genet (1995) 1.35
Copy number variation in the genome; the human DMD gene as an example. Cytogenet Genome Res (2006) 1.29
Somatic gene mutation and human disease other than cancer. Mutat Res (2003) 1.29
Mechanisms of aneuploidy induction in human oogenesis and early embryogenesis. Cytogenet Genome Res (2005) 1.25
From germline towards somatic mutations in the pathophysiology of vascular anomalies. Hum Mol Genet (2009) 1.23
Reconstruction of the 2.4 Mb human DMD-gene by homologous YAC recombination. Hum Mol Genet (1992) 1.22
Mosaic trisomies in human spontaneous abortions. Hum Genet (1982) 1.21
Different mosaicism frequencies for proximal and distal Duchenne muscular dystrophy (DMD) mutations indicate difference in etiology and recurrence risk. Am J Hum Genet (1992) 1.21
Copy number variation and mosaicism. Cytogenet Genome Res (2009) 1.20
Age-related changes of human bone marrow: a histometric estimation of proliferative cells, apoptotic cells, T cells, B cells and macrophages. Mech Ageing Dev (2000) 1.19
Molecular allelokaryotyping of early-stage, untreated chronic lymphocytic leukemia. Cancer (2008) 1.16
Dystrophin. The gene and its product. Nature (1989) 1.16
Array CGH analysis of chronic lymphocytic leukemia reveals frequent cryptic monoallelic and biallelic deletions of chromosome 22q11 that include the PRAME gene. Leuk Res (2008) 1.11
Comparative analysis of telomere lengths and erosion with age in human epidermis and lingual epithelium. J Invest Dermatol (2002) 1.11
Hot topics in epigenetic mechanisms of aging: 2011. Aging Cell (2012) 1.09
Whole-exome sequencing of DNA from peripheral blood mononuclear cells (PBMC) and EBV-transformed lymphocytes from the same donor. BMC Genomics (2011) 1.08
Revertant somatic mosaicism by mitotic recombination in dyskeratosis congenita. Am J Hum Genet (2012) 1.07
Identification of novel deletion breakpoints bordered by segmental duplications in the NF1 locus using high resolution array-CGH. J Med Genet (2005) 1.06
Somatic genome variations in health and disease. Curr Genomics (2010) 1.04
Effects of caloric restriction on cardiovascular aging in non-human primates and humans. Clin Geriatr Med (2009) 1.03
Whole-exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA). Am J Med Genet A (2011) 1.02
Structural genetic variation in the context of somatic mosaicism. Methods Mol Biol (2012) 1.02
Tissue specificity and stability of mosaicism in Pallister-Killian +i(12p) syndrome: relevance for prenatal diagnosis. Am J Med Genet (1992) 0.99
Failure of PHA-stimulated i(12p) lymphocytes to divide in Pallister-Killian syndrome. Am J Med Genet (1992) 0.98
Somatic mosaicism for chromosome X and Y aneuploidies in monozygotic twins heterozygous for sickle cell disease mutation. Am J Med Genet A (2010) 0.95
Germinal and Somatic Trisomy 21 Mosaicism: How Common is it, What are the Implications for Individual Carriers and How Does it Come About? Curr Genomics (2010) 0.94
Mitotic recombination mediated by the JJAZF1 (KIAA0160) gene causing somatic mosaicism and a new type of constitutional NF1 microdeletion in two children of a mosaic female with only few manifestations. J Med Genet (2003) 0.93
Growth of diploid, Epstein-Barr virus-carrying human lymphoblastoid cell lines heterotransplanted into nude mice under immunologically privileged conditions. Int J Cancer (1979) 0.91
Somatic mosaicism and cancer: a micro-genetic examination into the role of the androgen receptor gene in prostate cancer. Cancer Res (2005) 0.89
Clinical relevance of cytogenetics in myelodysplastic syndromes. Ann N Y Acad Sci (2006) 0.89
Telomere dynamics in human cells. Biochimie (2007) 0.88
Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature (2010) 20.01
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. Nat Genet (2011) 13.25
Signals of recent positive selection in a worldwide sample of human populations. Genome Res (2009) 8.38
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nat Genet (2013) 8.02
Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution. Nat Genet (2010) 7.94
Large-scale association analysis identifies new risk loci for coronary artery disease. Nat Genet (2012) 7.59
Population analysis of large copy number variants and hotspots of human genetic disease. Am J Hum Genet (2009) 6.79
Genome-wide association and meta-analysis of bipolar disorder in individuals of European ancestry. Proc Natl Acad Sci U S A (2009) 3.49
The role of geography in human adaptation. PLoS Genet (2009) 3.41
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. Nat Genet (2013) 3.25
Design of the Coronary ARtery DIsease Genome-Wide Replication And Meta-Analysis (CARDIoGRAM) Study: A Genome-wide association meta-analysis involving more than 22 000 cases and 60 000 controls. Circ Cardiovasc Genet (2010) 3.15
Common variants associated with plasma triglycerides and risk for coronary artery disease. Nat Genet (2013) 2.92
Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits. PLoS Genet (2013) 2.83
Susceptibility locus for clinical and subclinical coronary artery disease at chromosome 9p21 in the multi-ethnic ADVANCE study. Hum Mol Genet (2008) 2.71
Genomic patterns of homozygosity in worldwide human populations. Am J Hum Genet (2012) 2.30
Lack of association between the Trp719Arg polymorphism in kinesin-like protein-6 and coronary artery disease in 19 case-control studies. J Am Coll Cardiol (2010) 2.17
Age-related somatic structural changes in the nuclear genome of human blood cells. Am J Hum Genet (2012) 2.15
A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium. Diabetes (2011) 2.09
Characterizing the admixed African ancestry of African Americans. Genome Biol (2009) 2.01
Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders. Nat Genet (2013) 1.72
Differential DNA methylation with age displays both common and dynamic features across human tissues that are influenced by CpG landscape. Genome Biol (2013) 1.69
Trans-ethnic fine-mapping of lipid loci identifies population-specific signals and allelic heterogeneity that increases the trait variance explained. PLoS Genet (2013) 1.57
Epigenome-wide association study of fasting measures of glucose, insulin, and HOMA-IR in the Genetics of Lipid Lowering Drugs and Diet Network study. Diabetes (2013) 1.38
Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging. PLoS Genet (2009) 1.30
Whole-genome sequencing: a step closer to personalized medicine. JAMA (2011) 1.13
Randomized trial of personal genomics for preventive cardiology: design and challenges. Circ Cardiovasc Genet (2012) 1.06
Characterization of X-linked SNP genotypic variation in globally distributed human populations. Genome Biol (2010) 1.02
Somatic mosaicism for chromosome X and Y aneuploidies in monozygotic twins heterozygous for sickle cell disease mutation. Am J Med Genet A (2010) 0.95
Risk variants for psoriasis vulgaris in a large case-control collection and association with clinical subphenotypes. Hum Mol Genet (2012) 0.95
A genome-wide association study on a southern European population identifies a new Crohn's disease susceptibility locus at RBX1-EP300. Gut (2012) 0.90
Statistical quantification of methylation levels by next-generation sequencing. PLoS One (2011) 0.84
Trans-ethnic fine mapping identifies a novel independent locus at the 3' end of CDKAL1 and novel variants of several susceptibility loci for type 2 diabetes in a Han Chinese population. Diabetologia (2013) 0.83
Republished: Non-heritable genetics of human disease: spotlight on post-zygotic genetic variation acquired during lifetime. Postgrad Med J (2013) 0.77
Potential of whole-genome sequencing for determining risk and personalizing therapy: focus on AML. Expert Rev Anticancer Ther (2012) 0.77
Correction: The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study. PLoS Genet (2016) 0.75
Post-zygotic and inter-individual structural genetic variation in a presumptive enhancer element of the locus between the IL10Rβ and IFNAR1 genes. PLoS One (2013) 0.75