Mario Falchi

Summary

Affiliation: Imperial College
Country: UK

Publications

  1. doi request reprint Jenti: an efficient tool for mining complex inbred genealogies
    Mario Falchi
    Twin Research and Genetic Epidemiology Unit, Kings College London, UK
    Bioinformatics 24:724-6. 2008
  2. pmc Genome-wide association study identifies variants at 9p21 and 22q13 associated with development of cutaneous nevi
    Mario Falchi
    Department of Twin Research and Genetic Epidemiology, Kings College London, St Thomas Hospital Campus, London, UK
    Nat Genet 41:915-9. 2009
  3. pmc Identification of quantitative trait loci for fibrin clot phenotypes: the EuroCLOT study
    Frances M K Williams
    Department of Twin Research and Genetic Epidemiology, King s College London, St Thomas Hospital, London, UK
    Arterioscler Thromb Vasc Biol 29:600-5. 2009
  4. pmc Novel association approach for variable number tandem repeats (VNTRs) identifies DOCK5 as a susceptibility gene for severe obesity
    Julia S El-Sayed Moustafa
    Department of Genomics of Common Disease, School of Public Health Inperial College, London, W12 ONN, UK
    Hum Mol Genet 21:3727-38. 2012
  5. pmc The relationship between DXA-based and anthropometric measures of visceral fat and morbidity in women
    Kenan Direk
    Department of Twin Research and Genetic Epidemiology, London, UK
    BMC Cardiovasc Disord 13:25. 2013
  6. pmc Association of sirtuin 1 (SIRT1) gene SNPs and transcript expression levels with severe obesity
    Stephen J Clark
    Department of Genomics of Common Diseases, School of Public Health, Imperial College London, Hammersmith Hospital, London, UK
    Obesity (Silver Spring) 20:178-85. 2012
  7. doi request reprint Quantitative linkage analysis for pancreatic B-cell function and insulin resistance in a large twin cohort
    Mario Falchi
    Twin Research and Genetic Epidemiology Unit, St Thomas Campus, King s College London School of Medicine, London, UK
    Diabetes 57:1120-4. 2008
  8. pmc Genome-wide association study identifies genes for biomarkers of cardiovascular disease: serum urate and dyslipidemia
    Chris Wallace
    Clinical Pharmacology and The Genome Centre, Barts and The London, Queen Mary s School of Medicine and Dentistry, London, EC1M 6BQ, UK
    Am J Hum Genet 82:139-49. 2008
  9. ncbi request reprint Nevus size and number are associated with telomere length and represent potential markers of a decreased senescence in vivo
    Veronique Bataille
    Twin Research and Genetic Epidemiology Unit, King s College London, St Thomas Hospital Campus, London SE1 7EH, United Kingdom
    Cancer Epidemiol Biomarkers Prev 16:1499-502. 2007
  10. ncbi request reprint Genome-wide search for nevus density shows linkage to two melanoma loci on chromosome 9 and identifies a new QTL on 5q31 in an adult twin cohort
    Mario Falchi
    Twin Research and Genetic Epidemiology Unit, St Thomas Campus, Kings College London, London SE1 7EH, UK
    Hum Mol Genet 15:2975-9. 2006

Detail Information

Publications16

  1. doi request reprint Jenti: an efficient tool for mining complex inbred genealogies
    Mario Falchi
    Twin Research and Genetic Epidemiology Unit, Kings College London, UK
    Bioinformatics 24:724-6. 2008
    ..Additionally it allows for the reconstruction of sub-pedigrees suitable for genetic mapping in a systematic way...
  2. pmc Genome-wide association study identifies variants at 9p21 and 22q13 associated with development of cutaneous nevi
    Mario Falchi
    Department of Twin Research and Genetic Epidemiology, Kings College London, St Thomas Hospital Campus, London, UK
    Nat Genet 41:915-9. 2009
    ..1, combined P = 2.6 x 10(-7), OR = 1.23 (95% CI = 1.15-1.30). This provides the first report of common variants associated to nevus number and demonstrates association of these variants with melanoma susceptibility...
  3. pmc Identification of quantitative trait loci for fibrin clot phenotypes: the EuroCLOT study
    Frances M K Williams
    Department of Twin Research and Genetic Epidemiology, King s College London, St Thomas Hospital, London, UK
    Arterioscler Thromb Vasc Biol 29:600-5. 2009
    ..The aims of the current study from the EU consortium EuroCLOT were to (1) determine the heritability of fibrin phenotypes and (2) identify QTLs associated with fibrin phenotypes...
  4. pmc Novel association approach for variable number tandem repeats (VNTRs) identifies DOCK5 as a susceptibility gene for severe obesity
    Julia S El-Sayed Moustafa
    Department of Genomics of Common Disease, School of Public Health Inperial College, London, W12 ONN, UK
    Hum Mol Genet 21:3727-38. 2012
    ..These findings highlight the potential role of DOCK5 in human obesity and illustrate a novel approach for analysis of the contribution of VNTRs to disease susceptibility through association studies...
  5. pmc The relationship between DXA-based and anthropometric measures of visceral fat and morbidity in women
    Kenan Direk
    Department of Twin Research and Genetic Epidemiology, London, UK
    BMC Cardiovasc Disord 13:25. 2013
    ..Study aims were to a) identify a valid DXA-based measure of visceral adipose tissue (VAT), b) estimate VAT heritability and c) assess visceral fat association with morbidity in relation to body fat distribution...
  6. pmc Association of sirtuin 1 (SIRT1) gene SNPs and transcript expression levels with severe obesity
    Stephen J Clark
    Department of Genomics of Common Diseases, School of Public Health, Imperial College London, Hammersmith Hospital, London, UK
    Obesity (Silver Spring) 20:178-85. 2012
    ..However, no SNP was associated with SIRT1 transcript expression level. In summary, both SNPs and SIRT1 gene expression are associated with severe obesity...
  7. doi request reprint Quantitative linkage analysis for pancreatic B-cell function and insulin resistance in a large twin cohort
    Mario Falchi
    Twin Research and Genetic Epidemiology Unit, St Thomas Campus, King s College London School of Medicine, London, UK
    Diabetes 57:1120-4. 2008
    ..The recent nonlinear computer version of homeostasis model assessment (HOMA)2 provides an appropriate and convenient assessment of glucose metabolism, enabling gene-mapping studies in large population samples...
  8. pmc Genome-wide association study identifies genes for biomarkers of cardiovascular disease: serum urate and dyslipidemia
    Chris Wallace
    Clinical Pharmacology and The Genome Centre, Barts and The London, Queen Mary s School of Medicine and Dentistry, London, EC1M 6BQ, UK
    Am J Hum Genet 82:139-49. 2008
    ..This finding provides a potential biological mechanism for the recent association of this same allele of the same SNP with increased risk of coronary disease...
  9. ncbi request reprint Nevus size and number are associated with telomere length and represent potential markers of a decreased senescence in vivo
    Veronique Bataille
    Twin Research and Genetic Epidemiology Unit, King s College London, St Thomas Hospital Campus, London SE1 7EH, United Kingdom
    Cancer Epidemiol Biomarkers Prev 16:1499-502. 2007
    ..Understanding mechanisms influencing the induction and involution of nevi will not only help in understanding the pathophysiology of melanoma but should also shed light on the complex relationship between aging and cancer...
  10. ncbi request reprint Genome-wide search for nevus density shows linkage to two melanoma loci on chromosome 9 and identifies a new QTL on 5q31 in an adult twin cohort
    Mario Falchi
    Twin Research and Genetic Epidemiology Unit, St Thomas Campus, Kings College London, London SE1 7EH, UK
    Hum Mol Genet 15:2975-9. 2006
    ..They provide both novel and replicated QTLs for nevus development, some of which might overlap with those for melanoma and warrant detailed investigation...
  11. doi request reprint Analysis of quantitative trait loci
    Mario Falchi
    Twin Research and Genetic Epidemiology Unit, King s College London School of Medicine, London, United Kingdom
    Methods Mol Biol 453:297-326. 2008
    ..This chapter provides an introduction to classical and recent strategies for mapping quantitative trait loci in humans...
  12. pmc Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study
    Daniel G Healy
    Department of Clinical Neurosciences, Institute of Neurology, University College London, London, UK
    Lancet Neurol 7:583-90. 2008
    ..LRRK2-associated PD be distinguished from idiopathic PD; which mutations in LRRK2 are pathogenic; and what is the age-specific cumulative risk of PD for individuals who inherit or are at risk of inheriting a deleterious mutation in LRRK2?..
  13. doi request reprint Changes in levels of peripheral hormones controlling appetite are inconsistent with hyperphagia in leptin-deficient subjects
    Sadia Saeed
    Department of Genomics of Common Disease, Hammersmith Hospital, Imperial College London, Burlington Danes Building, Du Cane Road, London, W12 0NN, UK
    Endocrine 45:401-8. 2014
    ..In contrast, fasting and postprandial levels of gut hormones in heterozygous mutation carriers were comparable to those of normal-weight controls. ..
  14. pmc famCNV: copy number variant association for quantitative traits in families
    Hariklia Eleftherohorinou
    Department of Epidemiology and Biostatistics, School of Public Health, Imperial College London, St Mary s Hospital, London, UK
    Bioinformatics 27:1873-5. 2011
    ..Intensity signals that act as proxies for the number of copies are modeled in a variance component framework and association with traits is assessed through formal likelihood testing...
  15. ncbi request reprint PowQ: a user-friendly package for the design of variance component multipoint linkage analysis studies
    Mario Falchi
    Twin Research and Genetic Epidemiology Unit, St Thomas Hospital London, UK
    Bioinformatics 22:1404-5. 2006
    ..A user-friendly, graphical package for power evaluation and enhancement planning through variance component linkage analysis in a multipoint framework...
  16. ncbi request reprint PedVizApi: a Java API for the interactive, visual analysis of extended pedigrees
    Christian Fuchsberger
    Institute of Genetic Medicine, European Academy, Bolzano, Italy
    Bioinformatics 24:279-81. 2008
    ..An extensive demo application and a R interface is provided...