| # | Title | Journal | Year | Citations |
|---|
| 1 | Integrated transcriptional profiling and linkage analysis for identification of genes underlying disease | Nature Genetics | 2005 | 476 |
| 2 | A restricted spectrum of NRAS mutations causes Noonan syndrome | Nature Genetics | 2010 | 271 |
| 3 | Variation in a Repeat Sequence Determines Whether a Common Variant of the Cystic Fibrosis Transmembrane Conductance Regulator Gene Is Pathogenic or Benign | American Journal of Human Genetics | 2004 | 227 |
| 4 | HOTAIR long non-coding RNA is a negative prognostic factor not only in primary tumors, but also in the blood of colorectal cancer patients | Carcinogenesis | 2014 | 227 |
| 5 | Heritability and Tissue Specificity of Expression Quantitative Trait Loci | PLoS Genetics | 2006 | 183 |
| 6 | Gene encoding a new RING-B-box-Coiled-coil protein is mutated in mulibrey nanism | Nature Genetics | 2000 | 159 |
| 7 | Diagnostic guidelines for high-resolution melting curve (HRM) analysis: An interlaboratory validation ofBRCA1mutation scanning using the 96-well LightScanner™ | Human Mutation | 2009 | 122 |
| 8 | Mutation Spectrum inRAB3GAP1,RAB3GAP2, andRAB18and Genotype-Phenotype Correlations in Warburg Micro Syndrome and Martsolf Syndrome | Human Mutation | 2013 | 114 |
| 9 | Not EEG abnormalities but epilepsy is associated with autistic regression and mental functioning in childhood autism | European Child and Adolescent Psychiatry | 2004 | 103 |
| 10 | Transgenic and Recombinant Resistin Impair Skeletal Muscle Glucose Metabolism in the Spontaneously Hypertensive Rat | Journal of Biological Chemistry | 2003 | 98 |
| 11 | Mutation and phenotypic spectrum in patients with cardio‐facio‐cutaneous and Costello syndrome | Clinical Genetics | 2008 | 94 |
| 12 | Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like disease | Human Mutation | 2009 | 82 |
| 13 | Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness | Nature Communications | 2015 | 77 |
| 14 | Allele loss in Wilms tumors of chromosome arms 11q, 16q, and 22q correlates with clinicopathological parameters | Nature Communications | 1998 | 74 |
| 15 | Nanoscale Dynamic Readout of a Chemical Redox Process Using Radicals Coupled with Nitrogen-Vacancy Centers in Nanodiamonds | ACS Nano | 2020 | 66 |
| 16 | RathdMutation Reveals an Essential Role of Centrobin in Spermatid Head Shaping and Assembly of the Head-Tail Coupling Apparatus1 | Biology of Reproduction | 2009 | 61 |
| 17 | Molecular Insight into Drug-Loading Capacity of PEG–PLGA Nanoparticles for Itraconazole | Journal of Physical Chemistry B | 2018 | 60 |
| 18 | High proportion of recurrent germline mutations in the BRCA1 gene in breast and ovarian cancer patients from the Prague area | Breast Cancer Research | 2005 | 59 |
| 19 | Subtypes of autism by cluster analysis based on structural MRI data | European Child and Adolescent Psychiatry | 2005 | 57 |
| 20 | New Insights into the Genetic Control of Gene Expression using a Bayesian Multi-tissue Approach | PLoS Computational Biology | 2010 | 55 |
| 21 | Sucrose feeding during pregnancy and lactation elicits distinct metabolic response in offspring of an inbred genetic model of metabolic syndrome | American Journal of Physiology - Endocrinology and Metabolism | 2007 | 48 |
| 22 | The serotonin transporter gene (5-HTT) variant and psychiatric disorders: review of current literature | Neuroendocrinology Letters | 2010 | 48 |
| 23 | DiGeorge/velocardiofacial syndrome: FISH studies of chromosomes 22q11 and 10p14, and clinical reports on the proximal 22q11 deletion | Neuroendocrinology Letters | 2003 | 47 |
| 24 | An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome | European Journal of Human Genetics | 2015 | 47 |
| 25 | Novel BRAF mutation in a patient with LEOPARD syndrome and normal intelligence | European Journal of Medical Genetics | 2009 | 45 |
| 26 | SHOX gene defects and selected dysmorphic signs in patients of idiopathic short stature and Léri–Weill dyschondrosteosis | Gene | 2012 | 44 |
| 27 | Two Li-Fraumeni syndrome families with novel germline p53 mutations: loss of the wild-type p53 allele in only 50% of tumours | British Journal of Cancer | 1998 | 43 |
| 28 | MR relaxometry in Huntington's disease: Correlation between imaging, genetic and clinical parameters | Journal of the Neurological Sciences | 2007 | 43 |
| 29 | Polymorphisms of TGF-beta1 in cystic fibrosis patients | Clinical Immunology | 2006 | 42 |
| 30 | Variation of selective gray and white matter atrophy in Huntington's disease | Movement Disorders | 2007 | 42 |
| 31 | Both genetic and dietary factors underlie individual differences in DNA damage levels and DNA repair capacity | DNA Repair | 2014 | 42 |
| 32 | Functional single nucleotide polymorphisms within the cyclin-dependent kinase inhibitor 2A/2B region affect pancreatic cancer risk | Oncotarget | 2016 | 41 |
| 33 | Nijmegen breakage syndrome (NBS) with neurological abnormalities and without chromosomal instability | Journal of Medical Genetics | 2005 | 40 |
| 34 | DNA repair and cancer in colon and rectum: Novel players in genetic susceptibility | International Journal of Cancer | 2020 | 40 |
| 35 | Double-strand break repair and colorectal cancer: gene variants within 3′ UTRs and microRNAs binding as modulators of cancer risk and clinical outcome | Oncotarget | 2016 | 40 |
| 36 | Tenofovir Diphosphate Is a Poor Substrate and a Weak Inhibitor of Rat DNA Polymerases α, δ, and ε* | Antimicrobial Agents and Chemotherapy | 2002 | 39 |
| 37 | Y-Chromosome Transfer Induces Changes in Blood Pressure and Blood Lipids in SHR | Hypertension | 2001 | 38 |
| 38 | Interaction of spin-labeled HPMA-based nanoparticles with human blood plasma proteins – the introduction of protein-corona-free polymer nanomedicine | Nanoscale | 2018 | 37 |
| 39 | Dynamic genetic architecture of metabolic syndrome attributes in the rat | Physiological Genomics | 2005 | 36 |
| 40 | A database of germline p53 mutations in cancer-prone families | Nucleic Acids Research | 1998 | 35 |
| 41 | Reciprocal rat chromosome 2 congenic strains reveal contrasting blood pressure and heart rate QTL | Physiological Genomics | 2002 | 35 |
| 42 | Goltz–Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap | European Journal of Human Genetics | 2009 | 35 |
| 43 | Colorectal Adenomas—Genetics and Searching for New Molecular Screening Biomarkers | International Journal of Molecular Sciences | 2020 | 35 |
| 44 | Pallidal stimulation in siblings with pantothenate kinase‐associated neurodegeneration: Four‐year follow‐up | Movement Disorders | 2011 | 34 |
| 45 | Inhibition of Lipolysis Ameliorates Diabetic Phenotype in a Mouse Model of Obstructive Sleep Apnea | American Journal of Respiratory Cell and Molecular Biology | 2016 | 33 |
| 46 | Fusobacterium nucleatum tumor DNA levels are associated with survival in colorectal cancer patients | European Journal of Clinical Microbiology and Infectious Diseases | 2019 | 33 |
| 47 | Triplet-pore structure of a highly divergent TOM complex of hydrogenosomes in Trichomonas vaginalis | PLoS Biology | 2019 | 33 |
| 48 | Double Heterozygosity with Mutations Involving both the GJB2 and GJB6 Genes is a Possible, but very Rare, Cause of Congenital Deafness in the Czech Population | Annals of Human Genetics | 2005 | 32 |
| 49 | Investigator® Argus X‐12 study on the population of Czech Republic: Comparison of linked and unlinked X‐STRs for kinship analysis | Electrophoresis | 2014 | 31 |
| 50 | MR relaxometry and 1H MR spectroscopy for the determination of iron and metabolite concentrations in PKAN patients | European Radiology | 2005 | 30 |
