Selected Publications

Marroni F, Pinosio S, Morgante M. The quest for rare variants: pooled multiplexed next generation sequencing in plants. Front Plant Sci, 2012 3:133. [Abstract/Open Access full text]

Dastani Z, et al. 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 8(3):e1002607. [Abstract/Open Access full text]

Schiavi F, et al. The endemic paraganglioma syndrome type 1: origin, spread, and clinical expression. J Clin Endocrinol Metab, 2012 Apr;97(4):E637-41. [Abstract]/[Ask me a reprint!]

Marroni F, Pinosio S, Di Centa E, Jurman I, Boerjan W, Felice N, Cattonaro F, Morgante M. Large-scale detection of rare variants via pooled multiplexed next-generation sequencing: towards next-generation Ecotilling. Plant J, 2011 Aug;67(4):736-45. [Abstract]/[Ask me a reprint!]

Chambers JC, et al. Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. Nature Genetics, 2011 Oct 16;43(11):1131-8. [Abstract]

Marroni F, Pinosio S, Zaina G, Fogolari F, Felice N, Cattonaro F, Morgante M. Nucleotide diversity and linkage disequilibrium in Populus nigra cinnamyl alcohol dehydrogenase (CAD4) gene. Tree Genetics and Genomes, 2011 7(5): 1011-23. [Abstract]/[Ask me a reprint!]

Pastrello C, Pin E, Marroni F, Bedin C, Fornasarig M, Tibiletti MG,Oliani C, de Leon MP, Urso ED, Puppa LD, Agostini M, Viel A. Integrated analysis of unclassified variants in mismatch repair genes. Genet Med, 2011 Jan 13. [Abstract]

Pichler I, et al. Identification of a common variant in the TFR2 gene implicated in the physiological regulation of serum iron levels. Hum Mol Genet, 2011 Jan 4. [Abstract]

Teslovich TM, et al. Biological, clinical and population relevance of 95 loci for blood lipids. Nature, 2010 Aug 5;466(7307):707-13. [Abstract]/[Ask me a reprint!]

Eijgelsheim M, et al. Genome-wide association analysis identifies multiple loci related to resting heart rate. Hum Mol Genet, 2010 Oct 1;19(19):3885-94. [Abstract]

Wang W, et al. Estimating CDKN2A carrier probability and personalizing cancer risk assessments in hereditary melanoma using MelaPRO. Cancer Res. 2010 Jan 15;70(2):552-9. [Abstract]

Marroni F, Pfeufer A, Aulchenko YS, Franklin CS, Isaacs A, Pichler I, Wild SH, Oostra BA, Wright AF, Campbell H, Witteman JC, Kääb S, Hicks AA, Gyllensten U, Rudan I, Meitinger T, Pattaro C, van Duijn CM, Wilson JF, Pramstaller PP; EUROSPAN Consortium. A genome-wide association scan of RR and QT interval duration in 3 European genetically isolated populations: the EUROSPAN project. Circ Cardiovasc Genet. 2009 Aug;2(4):322-8. [Abstract]/[Ask me a reprint!]

Johansson A, Marroni F, Hayward C, Franklin CS, Kirichenko AV, Jonasson I, Hicks AA, Vitart V, Isaacs A, Axenovich T, Campbell S, Floyd J, Hastie N, Knott S, Lauc G, Pichler I, Rotim K, Wild SH, Zorkoltseva IV, Wilson JF, Rudan I, Campbell H, Pattaro C, Pramstaller P, Oostra BA, Wright AF, van Duijn CM, Aulchenko YS, Gyllensten U; for the EUROSPAN Consortium. Linkage and Genome-wide Association Analysis of Obesity-related Phenotypes: Association of Weight With the MGAT1 Gene. Obesity (Silver Spring). 2010 Jun;18(6):1276.[Abstract]

Pichler I, et al. Drawing the history of the Hutterite population on a genetic landscape: inference from Y-chromosome and mtDNA genotypes. Eur J Hum Genet. 2010 18(4):463-70.[Abstract]

Pichler I, Marroni F, Pattaro C, Lohmann K, de Grandi A, Klein C, Hicks AA, Pramstaller PP. Parkin gene modifies the effect of RLS4 on the age at onset of restless legs syndrome (RLS). Am J Med Genet B Neuropsychiatr Genet. 2010 Jan 5;153B(1):350-5. [Abstract]

Pattaro C, Aulchenko YS, Isaacs A, Vitart V, Hayward C, Franklin CS, Polasek O, Kolcic I, Biloglav Z, Campbell S, Hastie N, Lauc G, Meitinger T, Oostra BA, Gyllensten U, Wilson JF, Pichler I, Hicks AA, Campbell H, Wright AF, Rudan I, van Duijn CM, Riegler P, Marroni F, Pramstaller PP; EUROSPAN Consortium. Genome-wide linkage analysis of serum creatinine in three isolated European populations. Kidney Int.2009 Aug;76(3):297-306. [Abstract]/[Ask me a reprint!]

Aulchenko YS, et al.Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts. Nat Genet.2009 Jan;41(1):47-55. [Abstract]

Johansson A, Marroni F, Hayward C, Franklin CS, Kirichenko AV, Jonasson I, Hicks AA, Vitart V, Isaacs A, Axenovich T, Campbell S, Dunlop MG, Floyd J, Hastie N, Hofman A, Knott S, Kolcic I, Pichler I, Polasek O, Rivadeneira F, Tenesa A, Uitterlinden AG, Wild SH, Zorkoltseva IV, Meitinger T, Wilson JF, Rudan I, Campbell H, Pattaro C, Pramstaller P, Oostra BA, Wright AF, van Duijn CM, Aulchenko YS, Gyllensten U; EUROSPAN Consortium.: Common variants in the JAZF1 gene associated with height identified by linkage and genome-wide association analysis. Hum Mol Genet. 2009 Jan 15;18(2):373-80. [Abstract]/[Ask me a reprint!]

Riegler A, Marroni F, Pattaro C, Gueresi P, Pramstaller PP.: Isolation and marriage patterns in four South Tyrolean villages (Italy) during the nineteenth century. J Biosoc Sci.2008 Sep;40(5):787-91.[Abstract]/[Ask me a reprint!]

Marroni F, Cipollini G, Peissel B, D’Andrea E, Pensabene M, Radice P, Caligo MA, Presciuttini S, Bevilacqua G: Reconstructing the genealogy of a BRCA1 founder mutation by phylogenetic analysis. Annals of Human Genetics2008 72(Pt 3):310-8. [Abstract]/[Ask me a reprint!]

Marroni F, Grazio D, Pattaro C, Devoto M, Pramstaller P. Estimates of Genetic and Environmental Contribution to 43 Quantitative Traits Support Sharing of a Homogeneous Environment in an Isolated Population from South Tyrol, Italy. Hum Hered.2008 65(3):175-182.[Abstract]/[Ask me a reprint!]

Pattaro C, Marroni F, Riegler A, Mascalzoni D, Pichler I, Volpato CB, Dal Cero U, De Grandi A, Egger C, Eisendle A, Fuchsberger C, Gogele M, Pedrotti S, Pinggera GK, Stefanov SA, Vogl FD, Wiedermann CJ, Meitinger T, Pramstaller PP: The genetic study of three population microisolates in South Tyrol (MICROS): study design and epidemiological perspectives. BMC Med Genet. 2007 Jun 5;8(1):29[Abstract]/[Ask me a reprint!]

Marroni F, Pichler I, De Grandi A, Beu Volpato C, Vogl FD, Pinggera GK, Bailey-Wilson JE and Pramstaller PP: Population isolates in South Tyrol and their value for genetic dissection of complex diseases. Annals of Human Genetics 2006 70 (6), 812-821. [Abstract]/[Ask me a reprint!]

Pichler I, Marroni F, Beu Volpato C, Gusella JF, Kleine C, Casari G, De Grandi A, Pramstaller PP: Linkage Analysis Identifies a Novel Locus for Restless Legs Syndrome on Chromosome 2q in a South Tyrolean Population Isolate. American Journal of Human Genetics 2006 79(4):716-23. [Abstract]/[Ask me a reprint!]

Marroni F, Pastrello C, Benatti P, Torrini M, Barana D, Lucci Cordisco D, Viel A, Mareni C, Oliani C, Genuardi M, Bailey-Wilson JE, Ponz De Leon M, Presciuttini S: A genetic model for determining MSH2 and MLH1 carrier probabilities based on family history and tumor microsatellite instability. Clinical Genetics 2006 69(3):254-62.[Abstract]/[Ask me a reprint!]

Ciampolini R, et al. Statistical analysis of individual assignment tests among four cattle breeds using fifteen STR loci J. Anim Sci2006 84: 11-19.[Abstract]/[Ask me a reprint!]

Marangoni R, Marroni F, Gioffre D, Ghetti F, Colombetti G: Biological Weighting Function of the UV-B induced impairment of phototaxis in the fresh water ciliate Ophryoglena flava. Photochemistry and Photobiology 2004 80(3):408-11.[Abstract]/[Ask me a reprint!]

Marroni F, Aretini P, D Andrea E, Caligo MA, Cortesi L, Viel A, Ricevuto E, Montagna M, Cipollini G, Federico M, Santarosa M, Marchetti P, Bailey-Wilson JE, Bevilacqua G, Parmigiani G and Presciuttini S: Penetrances of breast and ovarian cancer in a large series of families tested for BRCA1/2 mutations. European Journal of Human Genetics 2004 12(11):899-906.[Abstract]/[Ask me a reprint!]

Marroni F, Curcio M, Fornaciari S, Lapi S, Mariotti ML, Scatena F, Presciuttini S: Micro-geographic variation of HLA A, B and DR haplotype frequencies in Tuscany (Italy): implications for recruitment of bone marrow donors. Tissue antigens 2004 64(4): 478-85.[Abstract]/[Ask me a reprint!]

Marroni F, Aretini P, D'Andrea E, Caligo MA, Cortesi L, Viel A, Ricevuto E, Montagna M, Cipollini G, Ferrari S, Santarosa M, Bisegna R, Bailey-Wilson JE, Bevilacqua G, Parmigiani G, Presciuttini S: Evaluation of widely used models for predicting BRCA1 and BRCA2 mutations Journal of Medical Genetics 2004 41(4):278-85.[Abstract]/[Ask me a reprint!]

Aretini P, et al. Different Expressivity of BRCA1 and BRCA2: Analysis of 179 Italian Pedigrees with Identified Mutation. Breast Cancer Research and Treatment 2003 81: 71-79.[Abstract]/[Ask me a reprint!]

Cadetti L, Marroni F, Marangoni R, Kuhlmann HW, Gioffré D, Colombetti G. Phototaxis in the ciliated protozoan Ophryoglena flava: dose-effect curves and action spectrum determination J. Photochem. Photobiol. B: Biol. 2000 57:41-50.[Abstract]/[Ask me a reprint!]