| # | Title | Journal | Year | Citations |
|---|
| 1 | Single-Cell Exome Sequencing Reveals Single-Nucleotide Mutation Characteristics of a Kidney Tumor | Cell | 2012 | 622 |
| 2 | Telomere Fluorescence Measurements in Granulocytes and T Lymphocyte Subsets Point to a High Turnover of Hematopoietic Stem Cells and Memory T Cells in Early Childhood | Journal of Experimental Medicine | 1999 | 611 |
| 3 | An Important Role for Type III Interferon (IFN-λ/IL-28) in TLR-Induced Antiviral Activity | Journal of Immunology | 2008 | 387 |
| 4 | Cancer stem cell markers in common cancers – therapeutic implications | Trends in Molecular Medicine | 2008 | 353 |
| 5 | Oligonucleotide-priming methods for the chromosome-specific labelling of alpha satellite DNA in situ | Chromosoma | 1989 | 320 |
| 6 | Resequencing of 200 human exomes identifies an excess of low-frequency non-synonymous coding variants | Nature Genetics | 2010 | 297 |
| 7 | Immunolocalization of AQP9 in Liver, Epididymis, Testis, Spleen, and Brain | Biochemical and Biophysical Research Communications | 2000 | 296 |
| 8 | The Werner Syndrome Helicase and Exonuclease Cooperate to Resolve Telomeric D Loops in a Manner Regulated by TRF1 and TRF2 | Molecular Cell | 2004 | 288 |
| 9 | Clear Correlation of Genotype with Disease Phenotype in Very–Long-Chain Acyl-CoA Dehydrogenase Deficiency | American Journal of Human Genetics | 1999 | 285 |
| 10 | A germline variant in the TP53 polyadenylation signal confers cancer susceptibility | Nature Genetics | 2011 | 251 |
| 11 | Statement on the Nomenclature of Human C4 Allotypes | Immunobiology | 1983 | 241 |
| 12 | No Association Between Telomere Length and Survival Among the Elderly and Oldest Old | Epidemiology | 2006 | 226 |
| 13 | High Rate of Chimeric Gene Origination by Retroposition in Plant Genomes | Plant Cell | 2006 | 207 |
| 14 | Genotypic and Phenotypic Spectrum in Tricho-Rhino-Phalangeal Syndrome Types I and III | American Journal of Human Genetics | 2001 | 205 |
| 15 | Assignment of an autosomal sex reversa– locus (SRA1) and campomelic dysplasia (CMPD1) to 17q24.3–q25.1 | Nature Genetics | 1993 | 196 |
| 16 | Inhibition of constitutively activated Stat3 correlates with altered Bcl-2/Bax expression and induction of apoptosis in mycosis fungoides tumor cells | Leukemia | 1999 | 189 |
| 17 | Epigenetics and cancer treatment | European Journal of Pharmacology | 2009 | 189 |
| 18 | PCR-Based Methods for Detecting Single-Locus DNA Methylation Biomarkers in Cancer Diagnostics, Prognostics, and Response to Treatment | Clinical Chemistry | 2009 | 189 |
| 19 | Immunolocalization of aquaporin-8 in rat kidney, gastrointestinal tract, testis, and airways | American Journal of Physiology - Renal Physiology | 2001 | 188 |
| 20 | Protein misfolding and degradation in genetic diseases | | 1999 | 184 |
| 21 | Mutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship | Human Mutation | 2001 | 178 |
| 22 | Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations | Human Molecular Genetics | 1997 | 175 |
| 23 | Constitutive STAT3 Activation in Intestinal T Cells from Patients with Crohn's Disease | Journal of Biological Chemistry | 2003 | 166 |
| 24 | A distinct population of clonogenic and multipotent murine follicular keratinocytes residing in the upper isthmus | Journal of Cell Science | 2008 | 166 |
| 25 | Characterization of a human ovarian teratocarcinoma-derived cell line | International Journal of Cancer | 1980 | 158 |
| 26 | Constitutive STAT3-activation in Sezary syndrome: tyrphostin AG490 inhibits STAT3-activation, interleukin-2 receptor expression and growth of leukemic Sezary cells | Leukemia | 2001 | 151 |
| 27 | Seemingly Neutral Polymorphic Variants May Confer Immunity to Splicing-Inactivating Mutations: A Synonymous SNP in Exon 5 of MCAD Protects from Deleterious Mutations in a Flanking Exonic Splicing Enhancer | American Journal of Human Genetics | 2007 | 140 |
| 28 | Identification and validation of highly frequent CpG island hypermethylation in colorectal adenomas and carcinomas | International Journal of Cancer | 2011 | 140 |
| 29 | Polymorphisms of the DNA repair gene XPD: correlations with risk of basal cell carcinoma revisited | Carcinogenesis | 2001 | 133 |
| 30 | Association analysis identifies TLR7 and TLR8 as novel risk genes in asthma and related disorders | Thorax | 2008 | 133 |
| 31 | Pig genome sequence - analysis and publication strategy | BMC Genomics | 2010 | 132 |
| 32 | Genomic structure of the human mitochondrial chaperonin genes: HSP60 and HSP10 are localised head to head on chromosome 2 separated by a bidirectional promoter | Human Genetics | 2003 | 131 |
| 33 | Role of melanoma chondroitin sulphate proteoglycan in patterning stem cells in human interfollicular epidermis | Development (Cambridge) | 2003 | 129 |
| 34 | High in vitro development after somatic cell nuclear transfer and trichostatin A treatment of reconstructed porcine embryos | Theriogenology | 2008 | 129 |
| 35 | High-Resolution Mapping of Genotype-Phenotype Relationships in Cri du Chat Syndrome Using Array Comparative Genomic Hybridization | American Journal of Human Genetics | 2005 | 126 |
| 36 | Asthma and atopy - a total genome scan for susceptibility genes | Allergy: European Journal of Allergy and Clinical Immunology | 2002 | 123 |
| 37 | Mitochondrial fatty acid oxidation defects—remaining challenges | Journal of Inherited Metabolic Disease | 2008 | 123 |
| 38 | Loss of B cell identity correlates with loss of B cell-specific transcription factors in Hodgkin/Reed-Sternberg cells of classical Hodgkin lymphoma | Oncogene | 2002 | 121 |
| 39 | Exome sequencing-driven discovery of coding polymorphisms associated with common metabolic phenotypes | Diabetologia | 2013 | 119 |
| 40 | A new approach to primer design for the control of PCR bias in methylation studies | BMC Research Notes | 2008 | 117 |
| 41 | Establishment of two continuous T-cell strains from a single plaque of a patient with mycosis fungoides | In Vitro Cellular & Developmental Biology | 1992 | 116 |
| 42 | GPX Pro198Leu and OGG1 Ser326Cys polymorphisms and risk of development of colorectal adenomas and colorectal cancer | Cancer Letters | 2005 | 114 |
| 43 | Molecular cytogenetic study of supernumerary marker chromosomes in an unselected group children | American Journal of Medical Genetics Part A | 1995 | 111 |
| 44 | Significant linkage between bipolar affective disorder and chromosome 12q24 | Psychiatric Genetics | 1998 | 108 |
| 45 | The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level | Human Genetics | 2008 | 101 |
| 46 | Single-cell sequencing analysis characterizes common and cell-lineage-specific mutations in a muscle-invasive bladder cancer | GigaScience | 2012 | 99 |
| 47 | Lipid-binding proteins modulate ligand-dependent trans-activation by peroxisome proliferator-activated receptors and localize to the nucleus as well as the cytoplasm | Journal of Lipid Research | 2000 | 99 |
| 48 | A Danish National Birth Cohort study of maternal HSV-2 antibodies as a risk factor for schizophrenia in their offspring | Schizophrenia Research | 2010 | 98 |
| 49 | An Epigenetic Modifier Results in Improved In Vitro Blastocyst Production after Somatic Cell Nuclear Transfer | Cloning and Stem Cells | 2007 | 97 |
| 50 | Piglets born from handmade cloning, an innovative cloning method without micromanipulation | Theriogenology | 2007 | 95 |
