Marcella Devoto, PhD

  • Department: Pediatrics
  • Division: Human Genetics and Molecular Biology
  • Email: devoto@email.chop.edu
  • Primary Address:
    The Children’s Hospital of Philadelphia,
    Division of Human Genetics,
    ARC Room 1002,
    3615 Civic Center Blvd
    Philadelphia, PA 19104
  • (267)426-0124

    Appointments

    Associate Professor of Pediatrics at the Children's Hospital of Philadelphia (2006 – present)
    Associate Professor of Epidemiology in Biostatistics and Epidemiology, University of Pennsylvania School of Medicine (2006 – present)

    Education

    MSc, Applied Statistics, Linacre College, University of Oxford, UK (1986)
    PhD, Statistics and Demography, University of Bologna, Italy (1983)

    Selected Publications

    Devoto, M. Prosperi, L. Bricarelli, F D. Coviello, D A. Croci, G. Zelante, L. Ferranti, G. Tenconi, R. Stomeo, C. Romeo, G.. Frequency of consanguineous marriages among parents and grandparents of Down patients.. Human Genetics. Vol 70(3) . 1985:256-8.
    Romeo, G. Bianco, M. Devoto, M. Menozzi, P. Mastella, G. Giunta, A M. Micalizzi, C. Antonelli, M. Battistini, A. Santamaria, F. et al.. Incidence in Italy, genetic heterogeneity, and segregation analysis of cystic fibrosis.. American Journal of Human Genetics. Vol 37(2) . 1985 Mar:338-49.
    Branzi, A. Romeo, G. Specchia, S. Lolli, C. Binetti, G. Devoto, M. Bacchi, M. Magnani, B.. Genetic heterogeneity of hypertrophic cardiomyopathy.. International Journal of Cardiology. Vol 7(2) . 1985 Feb:129-38.
    Vitale, E. Devoto, M. Mastella, G. Romeo, G.. Homogeneity of cystic fibrosis in Italy.. American Journal of Human Genetics. Vol 39(6) . 1986 Dec:832-6.
    Romeo, G. Devoto, M. Bianco, M.. Homogeneity vs. heterogeneity of cystic fibrosis in Italy.. American Journal of Human Genetics. Vol 39(2) . 1986 Aug:283-4.
    Devoto, M. Lozito, A. Staffa, G. D'Alessandro, R. Sacquegna, T. Romeo, G.. Segregation analysis of migraine in 128 families.. Cephalalgia. Vol 6(2) . 1986 Jun:101-5.
    Brignola, C. Lanfranchi, G A. Campieri, M. Bazzocchi, G. Devoto, M. Boni, P. Farruggia, P. Veggetti, S. Tragnone, A.. Importance of laboratory parameters in the evaluation of Crohn's disease activity.. Journal of Clinical Gastroenterology. Vol 8(3 Pt 1) . 1986 Jun:245-8.
    Tonini, G P. Verdona, G. Devoto, M. Sansone, R. Cornaglia-Ferraris, P.. N-myc oncogene amplification and catecholamine metabolism in patients with neuroblastoma.. Lancet. Vol 2(8562) . 1987 Oct 3:795.
    Estivill X, Farrall M, Williamson R, Ferrari M, Seia M, Giunta AM, Novelli G, Potenza L, Dallapiccola B, Borgo G, Gasparini P, Pignatti PF, De Benedetti L, Vitale E, Devoto M, Romeo G. Linkage disequilibrium between cystic fibrosis and linked DNA polymorphisms in Italian families: a collaborative study.. Am J Hum Genet. Vol 43. 1988:23-28.
    Schwartz, M. Super, M. Schmidtke, J. Buys, C. Farrall, M. Halley, D. Krawczak, M. Poncin, J E. Loukopoulos, D. Devoto, M.. Prenatal diagnosis of cystic fibrosis using linked DNA probes.. Prenatal Diagnosis. Vol 8(8) . 1988 Oct:619-24.
    Farrall, M. Wainwright, B J. Feldman, G L. Beaudet, A. Sretenovic, Z. Halley, D. Simon, M. Dickerman, L. Devoto, M. Romeo, G.. Recombinations between IRP and cystic fibrosis.. American Journal of Human Genetics. Vol 43(4) . 1988 Oct:471-5.
    Romeo, G. Devoto, M. Archidiacono, N. Ferlini, A. Roncuzzi, L. Melis, M A. Paderi, E. Ferrari, M. Tedeschi, S. Galluzzi, G. et al.. Italian experience regarding the prevention of Duchenne and Becker muscular dystrophies.. European Journal of Pediatrics. Vol 147(4) . 1988 May:412-5.
    Romeo, G. Devoto, M. Costa, G. Roncuzzi, L. Catizone, L. Zucchelli, P. Germino, G G. Keith, T. Weatherall, D J. Reeders, S T.. A second genetic locus for autosomal dominant polycystic kidney disease.. Lancet. Vol 2(8601) . 1988 Jul 2:8-11.
    Romeo, G. Devoto, M. Galietta, L J.. Why is the cystic fibrosis gene so frequent?.. Human Genetics. Vol 84(1) . 1989 Dec:1-5.
    Devoto, M. De Benedetti, L. Seia, M. Piceni Sereni, L. Ferrari, M. Bonduelle, M L. Malfroot, A. Lissens, W. Balassopoulou, A. Adam, G. et al.. Haplotypes in cystic fibrosis patients with or without pancreatic insufficiency from four European populations.. Genomics. Vol 5(4) . 1989 Nov:894-8.
    Figus, A. Lampis, R. Devoto, M. Ristaldi, M S. Ideo, A. de Virgilis, S. Nurchi, A M. Corrias, A. Corda, R. Lai, M E. et al.. Carrier detection and early diagnosis of Wilson's disease by restriction fragment length polymorphism analysis.. Journal of Medical Genetics. Vol 26(2) . 1989 Feb:78-82.
    Devoto M, Galietta LJV, Romeo G:. L'identificazione del gene della fibrosi cistica.. Rassegna. Riv Ital Ped. Vol 15. 1989:559-566.
    Romeo G, Devoto M:. Dal DNA alle malattie ereditarie.. Editrice Ambrosiana. Milano; 1989.
    European Working Group on Cystic Fibrosis Genetics (EWGCFG). Gradient of distribution in Europe of the major CF mutation and of its associated haplotype.. Hum Genet. Vol 85. 1990:436-442.
    De Benedetti, L. Ronchetto, P. Devoto, M. Romeo, G. Krainiaia, G V. Reznik, B Y.. Preliminary results on cystic fibrosis haplotypes from patients diagnosed in Odessa.. Acta Universitatis Carolinae - Medica. Vol 36(1-4) . 1990:112-4.
    Devoto, M. De Benedetti, L. Ronchetto, P. Romano, L. Romeo, G. Tsui, L C. Dean, M. Collins, F. Seia, M. Piceni Sereni, L. et al.. New restriction fragment length polymorphism (probe E9) reveals the highest linkage disequilibrium in Italian CF patients.. Acta Universitatis Carolinae - Medica. Vol 36(1-4) . 1990:102-4.
    Gasparini, P. Cappello, N. Dallapiccola, B. Devoto, M. Estivill, X. Ferrari, M. Leoni, G. Novelli, G. Piazza, A. Pignatti, P F. et al.. Regional distribution of cystic fibrosis linked DNA haplotypes in Italy, a collaborative study.. Gene Geography. Vol 4(1) . 1990 Apr:53-64.
    Dianzani, I. Devoto, M. Camaschella, C. Saglio, G. Ferrero, G B. Cerone, R. Romano, C. Romeo, G. Giovannini, M. Riva, E. et al.. Haplotype distribution and molecular defects at the phenylalanine hydroxylase locus in Italy.. Human Genetics. Vol 86(1) . 1990 Nov:69-72.
    Ronchetto, P. Devoto, M. Puliti, A. Romeo, G. Sokolov, B. Kalinin, V N. Vorsanova, S G. Krainiaia, G V. Reznik, B Y.. Preliminary results on the frequency of the delta F508 mutation in cystic fibrosis patients from the USSR.. Human Genetics. Vol 85(4) . 1990 Sep:423-4.
    Cremonesi, L. Ruocco, L. Seia, M. Russo, S. Giunta, A. Ronchetto, P. Fenu, L. Romano, L. Devoto, M. Romeo, G. et al.. Frequency of the delta F508 mutation in a sample of 175 Italian cystic fibrosis patients.. Human Genetics. Vol 85(4) . 1990 Sep:400-2.
    Balassopoulou, A. Loukopoulos, D. Kollia, P. Devoto, M. Adam, G. Arvanitakis, S. Hadjisevastou, H.. Cystic fibrosis in Greece: typing with DNA probes and identification of the common molecular defect.. Human Genetics. Vol 85(4) . 1990 Sep:393-4.
    Dean, M. Amos, J A. Lynch, J. Romeo, G. Devoto, M. Ward, K. Halley, D. Oostra, B. Ferrari, M. Russo, S. et al.. Prenatal diagnosis and linkage disequilibrium with cystic fibrosis for markers surrounding D7S8.. Human Genetics. Vol 85(3) . 1990 Aug:275-8.
    Devoto, M. Ronchetto, P. Romano, L. Romeo, G.. Analysis of delta F508 does not confirm a previously reported recombination in a cystic fibrosis family.[comment].. American Journal of Human Genetics. Vol 46(5) . 1990 May:1004-5.
    Ferrari, M. Antonelli, M. Bellini, F. Borgo, G. Castiglione, O. Curcio, L. Dallapiccola, B. Devoto, M. Estivill, X. Gasparini, P. et al.. Genetic differences in cystic fibrosis patients with and without pancreatic insufficiency. An Italian collaborative study.. Human Genetics. Vol 84(5) . 1990 Apr:435-8.
    Dianzani, I. Camaschella, C. Saglio, G. Ferrero, G B. Romeo, G. Devoto, M. Romano, C. Cerone, R. Giovannini, M. Riva, E. et al.. Haplotype distribution and molecular defects of PKU in Italy.. Journal of Inherited Metabolic Disease. Vol 13(3) . 1990:292-4.
    Devoto, M.. Origin and diffusion of the major CF mutation in Europe. The European Working Group on CF Genetics (EWGCFG).. Advances in Experimental Medicine & Biology. Vol 290. 1991:63-71; discussion 71-4.
    Seia, M. Cozzi, G. Sereni, L. Ferrari, M. Cremonesi, L. Covone, A E. Fenu, L. Ronchetto, P. Devoto, M. Romeo, G.. DNA technology for prenatal diagnosis of cystic fibrosis in Italy.. Advances in Experimental Medicine & Biology. Vol 290. 1991:399-401.
    Ronchetto, P. Fenu, L. Puliti, A. Devoto, M. Romano, L. Romeo, G. Cremonesi, L. Carrera, P. Ruocco, L. Seia, M. et al.. Frequency of cystic fibrosis mutations among Italian patients.. Advances in Experimental Medicine & Biology. Vol 290. 1991:387-90.
    Puliti, A. Orriols, J J. Ronchetto, P. Fenu, L. Devoto, M. Romeo, G. Kadasi, L. Gecz, J. Ferak, V.. Frequency of cystic fibrosis mutations and associated haplotype distribution in Slovak CF patients.. Advances in Experimental Medicine & Biology. Vol 290. 1991:383-5.
    Kalaydjieva, L. Dworniczak, B. Aulehla-Scholz, C. Devoto, M. Romeo, G. Sturhmann, M. Kucinskas, V. Yurgelyavicius, V. Horst, J.. Silent mutations in the phenylalanine hydroxylase gene as an aid to the diagnosis of phenylketonuria.. Journal of Medical Genetics. Vol 28(10) . 1991 Oct:686-90.
    Devoto, M. Castagnola, S. Saha, N. Chetsanga, C. Allen, M. Gyllensten, U. Romeo, G.. Screening for the major cystic fibrosis mutation in non-Caucasian populations.. American Journal of Human Genetics. Vol 49(4) . 1991 Oct:903-4.
    Peral, B. Hernandez-Chico, C. San Millan, J L. Granell, R. Molano, J. Carrasco, S. Telleria, J J. Devoto, M. Moreno, F.. The delta F508 mutation and RFLP-linked loci in Spanish cystic fibrosis families.. Human Genetics. Vol 87(4) . 1991 Aug:516-7.
    Devoto, M. Ronchetto, P. Fanen, P. Orriols, J J. Romeo, G. Goossens, M. Ferrari, M. Magnani, C. Seia, M. Cremonesi, L.. Screening for non-delta F508 mutations in five exons of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in Italy.. American Journal of Human Genetics. Vol 48(6) . 1991 Jun:1127-32.
    Ferrari, M. Colombo, C. Sebastio, G. Castiglione, O. Quattrucci, S. Dallapiccola, B. Leoni, G. Zanda, M. Romano, L. Devoto, M.. Cystic fibrosis patients with liver disease are not genetically distinct.. American Journal of Human Genetics. Vol 48(4) . 1991 Apr:815-6.
    Kalaydjieva, L. Dworniczak, B. Aulehla-Scholz, C. Devoto, M. Romeo, G. Stuhrmann, M. Horst, J.. Phenylketonuria mutation in southern Europeans.. Lancet. Vol 337(8745) . 1991 Apr 6:865.
    Polycystic Kidney Diseases.. Contributions to Nephrology. Vol 97. Karger, Basel; 1991.
    Cremonesi, L. Ferrari, M. Belloni, E. Magnani, C. Seia, M. Ronchetto, P. Rady, M. Russo, M P. Romeo, G. Devoto, M.. Four new mutations of the CFTR gene (541delC, R347H, R352Q, E585X) detected by DGGE analysis in Italian CF patients, associated with different clinical phenotypes.. Human Mutation. Vol 1(4) . 1992:314-9.
    Kadasi, L. Gecz, J. Puliti, A. Devoto, M. Ferak, V. Romeo, G. Kayserova, H. Kardosova, A. Hruskovic, I.. [The delta F508 mutation which causes cystic fibrosis and its association with closely linked DNA polymorphisms in the Slovak population]. [Slovak]. Bratislavske Lekarske Listy. Vol 93(3) . 1992 Mar:141-5.
    Kadasi, L. Gecz, J. Matusek, J. Krivusova, T. Ferak, V. Devoto, M. Hruskovic, J. Romeo, G.. Deletion delta F508 and haplotype analysis of CFTR gene region in Slovak CF patients.. Human Genetics. Vol 89(3) . 1992 May:305-6.
    Cossu, P. Pirastu, M. Nucaro, A. Figus, A. Balestrieri, A. Borrone, C. Giacchino, R. Devoto, M. Monni, G. Cao, A.. Prenatal diagnosis of Wilson's disease by analysis of DNA polymorphism.. New England Journal of Medicine. Vol 327(1) . 1992 Jul 2:57.
    Ronchetto, P. Telleria Orriols, J J. Fanen, P. Cremonesi, L. Ferrari, M. Magnani, C. Seia, M. Goossens, M. Romeo, G. Devoto, M.. A nonsense mutation (R1158X) and a splicing mutation (3849 + 4A----G) in exon 19 of the cystic fibrosis transmembrane conductance regulator gene.. Genomics. Vol 12(2) . 1992 Feb:417-8.
    Bolino, A. Devoto, M. Enia, G. Zoccali, C. Weissenbach, J. Romeo, G.. Genetic mapping in the Xp11.2 region of a new form of X-linked hypophosphatemic rickets.. European Journal of Human Genetics. Vol 1(4) . 1993:269-79.
    Casey, B. Devoto, M. Jones, K L. Ballabio, A.. Mapping a gene for familial situs abnormalities to human chromosome Xq24-q27.1.. Nature Genetics. Vol 5(4) . 1993 Dec:403-7.
    Petrukhin, K. Fischer, S G. Pirastu, M. Tanzi, R E. Chernov, I. Devoto, M. Brzustowicz, L M. Cayanis, E. Vitale, E. Russo, J J. et al.. Mapping, cloning and genetic characterization of the region containing the Wilson disease gene.. Nature Genetics. Vol 5(4) . 1993 Dec:338-43.
    Luo, Y. Ceccherini, I. Pasini, B. Matera, I. Bicocchi, M P. Barone, V. Bocciardi, R. Kaariainen, H. Weber, D. Devoto, M. et al.. Close linkage with the RET protooncogene and boundaries of deletion mutations in autosomal dominant Hirschsprung disease.. Human Molecular Genetics. Vol 2(11) . 1993 Nov:1803-8.
    Borgo, G. Cabrini, G. Mastella, G. Ronchetto, P. Devoto, M. Romeo, G.. Phenotypic intrafamilial heterogeneity in cystic fibrosis.[see comment].. Clinical Genetics. Vol 44(1) . 1993 Jul:48-9.
    DeLisi, L E. Devoto, M. Lofthouse, R. Poulter, M. Smith, A. Shields, G. Bass, N. Chen, G. Vita, A. Morganti, C. et al.. Search for linkage to schizophrenia on the X and Y chromosomes.. American Journal of Medical Genetics. Vol 54(2) . 1994 Jun 15:113-21.
    Magnani, C. Cremonesi, L. Belloni, E. Ferrari, M. Seia, M. Russo, M P. Devoto, M. Ronchetto, P. Romeo, G.. Informativity of intragenic microsatellites for carrier detection and prenatal diagnosis of cystic fibrosis in the Italian population.. Clinical Genetics. Vol 45(3) . 1994 Mar:135-9.
    Ceccherini, I. Zhang, A L. Matera, I. Yang, G. Devoto, M. Romeo, G. Cass, D T.. Interstitial deletion of the endothelin-B receptor gene in the spotting lethal (sl) rat.. Human Molecular Genetics. Vol 4(11) . 1995 Nov:2089-96.
    Gretz, N. Ceccherini, I. Kranzlin, B. Kloting, I. Devoto, M. Rohmeiss, P. Hocher, B. Waldherr, R. Romeo, G.. Gender-dependent disease severity in autosomal polycystic kidney disease of rats.. Kidney International. Vol 48(2) . 1995 Aug:496-500.
    Russo, M P. Romeo, G. Devoto, M. Barbujani, G. Cabrini, G. Giunta, A. D'Alcamo, E. Leoni, G. Sangiuolo, F. Magnani, C. et al.. Analysis of linkage disequilibrium between different cystic fibrosis mutations and three intragenic microsatellites in the Italian population.. Human Mutation. Vol 5(1) . 1995:23-7.
    Barone, V. Weber, D. Luo, Y. Brancolini, V. Devoto, M. Romeo, G.. Exclusion of linkage between RET and neuronal intestinal dysplasia type B.. American Journal of Medical Genetics. Vol 62(2) . 1996 Mar 15:195-8.
    Bolino, A. Brancolini, V. Bono, F. Bruni, A. Gambardella, A. Romeo, G. Quattrone, A. Devoto, M.. Localization of a gene responsible for autosomal recessive demyelinating neuropathy with focally folded myelin sheaths to chromosome 11q23 by homozygosity mapping and haplotype sharing.. Human Molecular Genetics. Vol 5(7) . 1996 Jul:1051-4.
    Brancolini, V. Devoto, M.. Genetic linkage studies for the identification of cancer-related genes. [Review] [45 refs]. Annali Dell'Istituto Superiore di Sanita. Vol 32(1) . 1996:173-80.
    Spotila, L D. Caminis, J. Devoto, M. Shimoya, K. Sereda, L. Ott, J. Whyte, M P. Tenenhouse, A. Prockop, D J.. Osteopenia in 37 members of seven families: analysis based on a model of dominant inheritance.. Molecular Medicine. Vol 2(3) . 1996 May:313-24.
    Bleasel, J F. Holderbaum, D. Brancolini, V. Moskowitz, R W. Haqqi, T M. Considine, E. Prockop, D J. Devoto, M. Williams, C J.. Arg519-Cys mutation in COL2A1: evidence for multiple founders.. Annals of the New York Academy of Sciences. Vol 785. 1996 Jun 8:215-8.
    Fujita, R. Bingham, E. Forsythe, P. McHenry, C. Aita, V. Navia, B A. Dry, K. Segal, M. Devoto, M. Bruns, G. Wright, A F. Ott, J. Sieving, P A. Swaroop, A.. A recombination outside the BB deletion refines the location of the X linked retinitis pigmentosa locus RP3.. American Journal of Human Genetics. Vol 59(1) . 1996 Jul:152-8.
    Auricchio, A. Brancolini, V. Casari, G. Milla, P J. Smith, V V. Devoto, M. Ballabio, A.. The locus for a novel syndromic form of neuronal intestinal pseudoobstruction maps to Xq28.. American Journal of Human Genetics. Vol 58(4) . 1996 Apr:743-8.
    Lloyd, S E. Pearce, S H. Fisher, S E. Steinmeyer, K. Schwappach, B. Scheinman, S J. Harding, B. Bolino, A. Devoto, M. Goodyer, P. Rigden, S P. Wrong, O. Jentsch, T J. Craig, I W. Thakker, R V.. A common molecular basis for three inherited kidney stone diseases.[see comment].. Nature. Vol 379(6564) . 1996 Feb 1:445-9.
    McGee, T L. Devoto, M. Ott, J. Berson, E L. Dryja, T P.. Evidence that the penetrance of mutations at the RP11 locus causing dominant retinitis pigmentosa is influenced by a gene linked to the homologous RP11 allele.. American Journal of Human Genetics. Vol 61(5) . 1997 Nov:1059-66.
    Dann, J. DeLisi, L E. Devoto, M. Laval, S. Nancarrow, D J. Shields, G. Smith, A. Loftus, J. Peterson, P. Vita, A. Comazzi, M. Invernizzi, G. Levinson, D F. Wildenauer, D. Mowry, B J. Collier, D. Powell, J. Crowe, R R. Andreasen, N C. Silverman, J M. Mohs, R C. Murray, R M. Walters, M K. Lennon, D P. Crow, T J. et al.. A linkage study of schizophrenia to markers within Xp11 near the MAOB gene.. Psychiatry Research. Vol 70(3) . 1997 May 30:131-43.
    Cusi, D. Barlassina, C. Azzani, T. Casari, G. Citterio, L. Devoto, M. Glorioso, N. Lanzani, C. Manunta, P. Righetti, M. Rivera, R. Stella, P. Troffa, C. Zagato, L. Bianchi, G.. Polymorphisms of alpha-adducin and salt sensitivity in patients with essential hypertension.[see comment][erratum appears in Lancet 1997 Aug 16;350(9076):524].. Lancet. Vol 349(9062) . 1997 May 10:1353-7.
    Devoto M:. From gene mapping to the identification of mutations: The example of the Hirschsprung disease genes.. In: Genetic Mapping of Disease Genes (Chapter 18),. Academic Press LTD, London; 1997:239-246..
    Bolino, A. Seri, M. Caroli, F. Eubanks, J. Srinivasan, J. Mandich, P. Schenone, A. Quattrone, A. Romeo, G. Catterall, W A. Devoto, M.. Exclusion of the SCN2B gene as candidate for CMT4B.. European Journal of Human Genetics. Vol 6(6) . 1998 Nov-Dec:629-34.
    Rosatelli, M C. Meloni, A. Meloni, A. Devoto, M. Cao, A. Scott, H S. Peterson, P. Heino, M. Krohn, K J. Nagamine, K. Kudoh, J. Shimizu, N. Antonarakis, S E.. A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients.. Human Genetics. Vol 103(4) . 1998 Oct:428-34.
    Devoto, M. Shimoya, K. Caminis, J. Ott, J. Tenenhouse, A. Whyte, M P. Sereda, L. Hall, S. Considine, E. Williams, C J. Tromp, G. Kuivaniemi, H. Ala-Kokko, L. Prockop, D J. Spotila, L D.. First-stage autosomal genome screen in extended pedigrees suggests genes predisposing to low bone mineral density on chromosomes 1p, 2p and 4q.. European Journal of Human Genetics. Vol 6(2) . 1998 Mar-Apr:151-7.
    Bleasel, J F. Holderbaum, D. Brancolini, V. Moskowitz, R W. Considine, E L. Prockop, D J. Devoto, M. Williams, C J.. Five families with arginine 519-cysteine mutation in COL2A1: evidence for three distinct founders.. Human Mutation. Vol 12(3) . 1998:172-6.
    Arcos-Burgos, M. Palacio, L G. Jimenez, I. Pineda, N. Mora, O. Sanchez, J L. Jimenez, M. Munoz, A. Brancolini, V. Devoto, M. Ruiz-Linares, A.. [Antiochian genealogies in which idiopathic epilepsy presents familial conglomeration. Simulations of power for the detection of genetic linkage]. [Spanish]. Revista de Neurologia. Vol 26(149) . 1998 Jan:50-2.
    Gambardella, A. Bolino, A. Muglia, M. Valentino, P. Bono, F. Oliveri, R L. Sabatelli, M. Brancolini, V. Van Broeckhoven, C. Romeo, G. Devoto, M. Quattrone, A.. Genetic heterogeneity in autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths (CMT4B).. Neurology. Vol 50(3) . 1998 Mar:799-801.
    Annese, V. Latiano, A. Bovio, P. Forabosco, P. Piepoli, A. Lombardi, G. Andreoli, A. Astegiano, M. Gionchetti, P. Riegler, G. Sturniolo, G C. Clementi, M. Rappaport, E. Fortina, P. Devoto, M. Gasparini, P. Andriulli, A.. Genetic analysis in Italian families with inflammatory bowel disease supports linkage to the IBD1 locus--a GISC study.. European Journal of Human Genetics. Vol 7(5) . 1999 Jul:567-73.
    Seri, M. Cusano, R. Forabosco, P. Cinti, R. Caroli, F. Picco, P. Bini, R. Morra, V B. De Michele, G. Lerone, M. Silengo, M. Pela, I. Borrone, C. Romeo, G. Devoto, M.. Genetic mapping to 10q23.3-q24.2, in a large Italian pedigree, of a new syndrome showing bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy.. American Journal of Human Genetics. Vol 64(2) . 1999 Feb:586-93.
    Andrew, L J. Brancolini, V. de la Pena, L S. Devoto, M. Caeiro, F. Marchegiani, R. Reginato, A. Gaucher, A. Netter, P. Gillet, P. Loeuille, D. Prockop, D J. Carr, A. Wordsworth, B F. Lathrop, M. Butcher, S. Considine, E. Everts, K. Nicod, A. Walsh, S. Williams, C J.. Refinement of the chromosome 5p locus for familial calcium pyrophosphate dihydrate deposition disease.. American Journal of Human Genetics. Vol 64(1) . 1999 Jan:136-45.
    Fimiani, M. Seri, M. Rubegni, P. Cusano, R. De Aloe, G. Forabosco, P. Devoto, M. Andreassi, L. Renieri, A.. Autosomal dominant aplasia cutis congenita: report of a large Italian family and no hint for candidate chromosomal regions.. Archives of Dermatological Research. Vol 291(12) . 1999 Dec:637-42.
    Forabosco, P. Collins, A. Latiano, A. Annese, V. Clementi, M. Andriulli, A. Fortina, P. Devoto, M. Morton, N E.. Combined segregation and linkage analysis of inflammatory bowel disease in the IBD1 region using severity to characterise Crohn's disease and ulcerative colitis. On behalf of the GISC.. European Journal of Human Genetics. Vol 8(11) . 2000 Nov:846-52.
    Lo Nigro, C. Cusano, R. Scaranari, M. Cinti, R. Forabosco, P. Morra, V B. De Michele, G. Santoro, L. Davies, S. Hurst, J. Devoto, M. Ravazzolo, R. Seri, M.. A refined physical and transcriptional map of the SPG9 locus on 10q23.3-q24.2.. European Journal of Human Genetics. Vol 8(10) . 2000 Oct:777-82.
    Griseri, P. Sancandi, M. Patrone, G. Bocciardi, R. Hofstra, R. Ravazzolo, R. Devoto, M. Romeo, G. Ceccherini, I.. A single-nucleotide polymorphic variant of the RET proto-oncogene is underrepresented in sporadic Hirschsprung disease.. European Journal of Human Genetics. Vol 8(9) . 2000 Sep:721-4.
    Bolino, A. Muglia, M. Conforti, F L. LeGuern, E. Salih, M A. Georgiou, D M. Christodoulou, K. Hausmanowa-Petrusewicz, I. Mandich, P. Schenone, A. Gambardella, A. Bono, F. Quattrone, A. Devoto, M. Monaco, A P.. Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2.. Nature Genetics. Vol 25(1) . 2000 May:17-9.
    Bolino, A. Levy, E R. Muglia, M. Conforti, F L. LeGuern, E. Salih, M A. Georgiou, D M. Christodoulou, R K. Hausmanowa-Petrusewicz, I. Mandich, P. Gambardella, A. Quattrone, A. Devoto, M. Monaco, A P.. Genetic refinement and physical mapping of the CMT4B gene on chromosome 11q22.. Genomics. Vol 63(2) . 2000 Jan 15:271-8.
    Devoto M. Un'associazione che funziona.. Rr - Ricerca Roche. Vol 29. 2000:74-76.
    Shugart, Y Y. Specchia, C. Li, H H. Doan, B Q. Mathias, R A. Devoto, M.. Comparison of sib pair-based approaches for identifying quantitative trait loci underlying asthma in the Busselton families.. Genetic Epidemiology. Vol 21(Suppl 1) . 2001:S198-203.
    Devoto, M. Specchia, C. Li, H H. Caminis, J. Tenenhouse, A. Rodriguez, H. Spotila, L D.. Variance component linkage analysis indicates a QTL for femoral neck bone mineral density on chromosome 1p36.. Human Molecular Genetics. Vol 10(21) . 2001 Oct 1:2447-52.
    Iolascon, A. Giordano, P. Storelli, S. Li, H H. Coppola, B. Piga, A. Fantola, E. Forni, G. Cianciulli, P. Perrotta, S. Magnano, C. Maggio, A. Mangiagli, A. Devoto, M.. Thrombophilia in thalassemia major patients: analysis of genetic predisposing factors.. Haematologica. Vol 86(10) . 2001 Oct:1112-3.
    Vitale, E. Specchia, C. Devoto, M. Angius, A. Rong, S. Rocchi, M. Schwalb, M. Demelas, L. Paglietti, D. Manca, S. Mastropaolo, C. Serra, G.. Novel X-linked mental retardation syndrome with short stature maps to Xq24.. American Journal of Medical Genetics. Vol 103(1) . 2001 Sep 15:1-8.
    Krantz, I D. Tonkin, E. Smith, M. Devoto, M. Bottani, A. Simpson, C. Hofreiter, M. Abraham, V. Jukofsky, L. Conti, B P. Strachan, T. Jackson, L.. Exclusion of linkage to the CDL1 gene region on chromosome 3q26.3 in some familial cases of Cornelia de Lange syndrome.. American Journal of Medical Genetics. Vol 101(2) . 2001 Jun 15:120-9.
    Vitale, E. Brancolini, V. De Rienzo, A. Bird, L. Allada, V. Sklansky, M. Chae, C U. Ferrero, G B. Weber, J. Devoto, M. Casey, B.. Suggestive linkage of situs inversus and other left-right axis anomalies to chromosome 6p.. Journal of Medical Genetics. Vol 38(3) . 2001 Mar:182-5.
    Tonini, G P. McConville, C. Cusano, R. Rees, S A. Dagnino, M. Longo, L. De Bernardi, B. Conte, M. Garaventa, A. Romeo, G. Devoto, M. Seri, M.. Exclusion of candidate genes and chromosomal regions in familial neuroblastoma.. International Journal of Molecular Medicine. Vol 7(1) . 2001 Jan:85-9.
    Perri P, Longo L, Cusano R, McConville CM, Rees SA, Devoto M, Conte M, Ferrara GB, Seri M, Romeo G, Tonini GP.. Weak linkage at 4p16 to predisposition for human neuroblastoma.. Oncogene. Vol 21(54) . 2002 Nov 28:8356-60.
    Kudaravalli R, Tidd T, Pinotti M, Ratti A, Santacroce R, Margaglione M, Dallapiccola B, Bernardi F, Fortina P, Devoto M, Pollak ES.. Polymorphic changes in the 5' flanking region of factor VII have a combined effect on promoter strength.. Thrombosis & Haemostasis. Vol 88(5) . 2002 Nov:763-7.
    Griseri P, Pesce B, Patrone G, Osinga J, Puppo F, Sancandi M, Hofstra R, Romeo G, Ravazzolo R, Devoto M, Ceccherini I. A rare haplotype of the RET proto-oncogene is a risk-modifying allele in hirschsprung disease.. American Journal of Human Genetics. Vol 71(4) . 2002 Oct:969-74.
    Annese, V. Piepoli, A. Andriulli, A. Latiano, A. Napolitano, G. Li, H-H. Forabosco, P. Devoto, M.. Association of Crohn's disease and ulcerative colitis with haplotypes of the MLH1 gene in Italian inflammatory bowel disease patients.. Journal of Medical Genetics. Vol 39(5) . 2002 May:332-4.
    Mirghomizadeh F, Bardtke B, Devoto M, Pfister M, Oeken J, Konig E, Vitale E, Riccio A, De Rienzo A, Zenner HP, Blin N. Second family with hearing impairment linked to 19q13 and refined DFNA4 localisation.. European Journal of Human Genetics. Vol 10(2) . 2002 Feb:95-9.
    Vitale E, Cook S, Sun R, Specchia C, Subramanian K, Rocchi M, Nathanson D, Schwalb M, Devoto M, Rohowsky-Kochan C. Linkage analysis conditional on HLA status in a large North American pedigree supports the presence of a multiple sclerosis susceptibility locus on chromosome 12p12.. Human Molecular Genetics. Vol 11(3) . 2002 Feb 1:295-300.
    Perri P, Longo L, McConville C, Cusano R, Rees SA, Seri M, Conte M, Romeo G, Devoto M, Tonini GP:. Linkage analysis in families with recurrent neuroblastoma.. Ann N Y Acad Sci. Vol 963. 2002:74-84.
    Annese, V. Latiano, A. Palmieri, O. Li, H-H. Forabosco, P. Ferraris, A. Andriulli, A. Vecchi, M. Ardizzone, S. Cottone, M. Dallapiccola, B. Rappaport, E. Fortina, P. Devoto, M.. Linkage of ulcerative colitis to the pericentromeric region of chromosome 16 in Italian inflammatory bowel disease families is independent of the presence of common CARD15 mutations.. Journal of Medical Genetics. Vol 40(11) . 2003 Nov:837-41.
    Spotila, L D. Rodriguez, H. Koch, M. Tenenhouse, H S. Tenenhouse, A. Li, H. Devoto, M.. Association analysis of bone mineral density and single nucleotide polymorphisms in two candidate genes on chromosome 1p36.. Calcified Tissue International. Vol 73(2) . 2003 Aug:140-6.
    Palmieri O, Toth S, Ferraris A, Andriulli A, Latiano A, Annese V, Dallapiccola B, Vecch M, Devot, M, Surrey S, Fortina P. CARD15 genotyping in inflammatory bowel disease patients by multiplex pyrosequencing.. Clinical Chemistry. Vol 49(10) . 2003 Oct:1675-9.
    Sancandi, M. Griseri, P. Pesce, B. Patrone, G. Puppo, F. Lerone, M. Martucciello, G. Romeo, G. Ravazzolo, R. Devoto, M. Ceccherini, I.. Single nucleotide polymorphic alleles in the 5' region of the RET proto-oncogene define a risk haplotype in Hirschsprung's disease.. Journal of Medical Genetics. Vol 40(9) . 2003 Sep:714-8.
    Paluru P, Ronan SM, Heon E, Devoto M, Wildenberg SC, Scavello G, Holleschau A, Makitie O, Cole WG, King RA, Young TL.. New locus for autosomal dominant high myopia maps to the long arm of chromosome 17.. Investigative Ophthalmology & Visual Science. Vol 44(5) . 2003 May:1830-6.
    Motzo C, Contu D, Cordell HJ, Lampis R, Congia M, Marrosu MG, Todd JA, Devoto M, Cucca F.. Heterogeneity in the magnitude of the insulin gene effect on HLA risk in type 1 diabetes.. Diabetes. Vol 53(12) . 2004 Dec:3286-91.
    Gillis LA, McCallum J, Kaur M, DeScipio C, Yaeger D, Mariani A, Kline AD, Li H-h, Devoto M, Jackson LG, Krantz ID.. NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations.. American Journal of Human Genetics. Vol 75(4) . 2004 Oct:610-23.
    Pfister M, Thiele H, Van Camp G, Fransen E, Apaydin F, Aydin O, Leistenschneider P, Devoto M, Zenner H-P, Blin N, Nurnberg P, Ozkarakas H, Kupka S.. A genotype-phenotype correlation with gender-effect for hearing impairment caused by TECTA mutations.. Cellular Physiology & Biochemistry. Vol 14(4-6) . 2004:369-76.
    Krantz ID, McCallum J, DeScipio C, Kaur M, Gillis LA, Yaeger D, Jukofsky L, Wasserman N, Bottani A, Morris CA, Nowaczyk MJM, Toriello H, Bamshad MJ, Carey JC, Rappaport E, Kawauchi S, Lander AD Calof AL Li H-H, Devoto M, Jackson LG.. Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B.. Nature Genetics. Vol 36(6) . 2004 Jun:631-5.
    Sharan, K. Surrey, S. Ballas, S. Borowski, M. Devoto, M. Wang, K-F. Sandler, E. Keller, M.. Association of T-786C eNOS gene polymorphism with increased susceptibility to acute chest syndrome in females with sickle cell disease.[see comment].. British Journal of Haematology. Vol 124(2) . 2004 Jan:240-3.
    Forabosco, Paola. Falchi, Mario. Devoto, Marcella.. Statistical tools for linkage analysis and genetic association studies. [Review] [122 refs]. Expert Review of Molecular Diagnostics. Vol 5(5) . 2005 Sep:781-96.
    Palmieri, O. Latiano, A. Valvano, R. D'Inca, R. Vecchi, M. Sturniolo, G C. Saibeni, S. Bossa, F. Latiano, T. Devoto, M. Andriulli, A. Annese, V.. Multidrug resistance 1 gene polymorphisms are not associated with inflammatory bowel disease and response to therapy in Italian patients.. Alimentary Pharmacology & Therapeutics. Vol 22(11-12) . 2005 Dec:1129-38.
    Kaur, Maninder. DeScipio, Cheryl. McCallum, Jennifer. Yaeger, Dinah. Devoto, Marcella. Jackson, Laird G. Spinner, Nancy B. Krantz, Ian D.. Precocious sister chromatid separation (PSCS) in Cornelia de Lange syndrome.. American Journal of Medical Genetics. Part A. Vol 138(1) . 2005 Sep 15:27-31.
    Paluru, Prasuna C. Nallasamy, Sudha. Devoto, Marcella. Rappaport, Eric F. Young, Terri L.. Identification of a novel locus on 2q for autosomal dominant high-grade myopia.. Investigative Ophthalmology & Visual Science. Vol 46(7) . 2005 Jul:2300-7.
    Devoto, Marcella. Spotila, Loretta D. Stabley, Deborah L. Wharton, Gina N. Rydbeck, Halfdan. Korkko, Jarmo. Kosich, Richard. Prockop, Darwin. Tenenhouse, Alan. Sol-Church, Katia.. Univariate and bivariate variance component linkage analysis of a whole-genome scan for loci contributing to bone mineral density.. European Journal of Human Genetics. Vol 13(6) . 2005 Jun:781-8.
    Griseri, Paola. Bachetti, Tiziana. Puppo, Francesca. Lantieri, Francesca. Ravazzolo, Roberto. Devoto, Marcella. Ceccherini, Isabella.. A common haplotype at the 5' end of the RET proto-oncogene, overrepresented in Hirschsprung patients, is associated with reduced gene expression.. Human Mutation. Vol 25(2) . 2005 Feb:189-95.
    Nallasamy, Sudha. Kherani, Femida. Yaeger, Dinah. McCallum, Jennifer. Kaur, Maninder. Devoto, Marcella. Jackson, Laird G. Krantz, Ian D. Young, Terri L.. Ophthalmologic findings in Cornelia de Lange syndrome: a genotype-phenotype correlation study.. Archives of Ophthalmology. Vol 124(4) . 2006 Apr:552-7.
    Nallasamy S, Kherani F, Yaeger D, McCallum J, Kaur M, Devoto M, Jackson LG, Krantz ID, Young TL. Cornelia de Lange syndrome and ophthalmologic findings: A genotype-phenotype correlation study. Arch Ophthalmol. Vol 124. 2006:552-557.
    Latiano A, Palmieri O, Valvano RM, D’Incà R, Vecchi M, Ferraris A, Sturniolo GC, Spina L, Lombardi G, Dallapiccola B, Andriulli A, Devoto M, Annese V. Contribution of IBD5 locus to clinical features of IBD patients. Am J Gastroenterol. Vol 101. 2006:318-325.
    Palmieri O, Latiano A, Valvano R, D’Incà R, Vecchi M, Sturniolo GC, Saibeni S, Peyvandi F, Bossa F, Zagaria C, Andriulli A, Devoto M , Annese V. Variants of OCTN1-2 cation transporter genes are associated with both Crohn’s disease and ulcerative colitis. Aliment Pharmacol Ther. Vol 23. 2006:497-506.
    Lantieri F, Griseri P, Puppo F, Campus R, Martucciello G, Ravazzolo R, Devoto M, Ceccherini I. Haplotypes of the human RET proto-oncogene associated with Hirschsprung disease in the Italian population derive from a single ancestral combination of alleles. Ann Hum Genet. Vol 70. 2006:12-26.
    Ioannidis JPA, Ng MY, Sham PC, Zintzaras E, Lewis C, Deng HW, Econs MJ, Karasik D, Devoto M, Kammerer CM, Spector T, Andrew T, Cupples LA, Foroud T, Kiel DP, Koller D, Langdahl B, Mitchell BD, Peacock M, Recker R, Shen H, Sol-Church K, Spotila LD, Uitterlinden AG, Wilson SG, Kung AWC, Ralston SH:. Collaborative genome search meta-analysis for bone mineral density.. American Society for Bone and Mineral Research.. Vol Philadelphia, PA. 2006 September 15-18.
    Zhang H, Rydbeck H, Stabley D, Spotila LD, Sol-Church K, Devoto M:. Fine mapping by SNP linkage disequilibrium analysis of a candidate region in 1p36 for bone mineral density.. Genome-wide Association Studies: Design and Analysis. 2006 Yale, CT, October 26-27.
    Lantieri F, Rydbeck H, Ceccherini I, Devoto M:. Univariate and bivariate quantitative linkage analysis on selected expression phenotypes.. Genetic Analysis Workshop 15.. Vol Tampa, FL. 2006 November 11-15.
    Zhang HT, Sol-Church K, Rydbeck H, Stabley D, Spotila LD, Devoto M:. Fine mapping by SNP linkage disequilibrium analysis of a candidate region for bone mineral density in 1p36.. Fellow’s Research Poster Day at the Children’s Hospital of Philadelphia,. Vol Philadelphia, PA. 2007 February 28,.
    Devoto M, Baldassano RN, Bradfield JP, Monos DS, Kim CE, Glessner JT, T. Casalunovo T, Frackelton EC, Otieno G, Kanterakis S, Shaner JL, Smith RM, Eckert AW, Robinson LJ, Onyah CC, Abrams DJ, Chiavacci RM, Skraban R, Grant SFA, Hakonarson H:. Association of variants of the IL23R and ATG16L1 genes with susceptibility to pediatric Crohn’s disease.. European Human Genetics Conference.. Vol Nice, France. 2007 June 16-19.
    Zhang H, Rydbeck H, Stabley D, Spotila LD, Sol-Church K, Devoto M:. Fine mapping by SNP linkage disequilibrium analysis of a candidate region in 1p36 for bone mineral density.. European Human Genetics Conference. Vol Nice, France. 2007 June 16-19.
    Fortina P, Specchia C, Mettil W, Scott K, Rydbeck H, Devoto M, Falkner B:. SNP association analysis of adipokines and metabolic traits in obesity and hypertension.. European Human Genetics Conference. Vol Nice, France. 2007 June 16-19.
    Scheinfeldt L, Goldmuntz E, Campanile J, Devoto M, Driscoll DA. Family-based association studies of congenital heart defects.. American Society of Human Genetics 57th Annual Meeting. Vol San Diego, CA. 2007 October 23-27.
    Hakonarson H, Grant SFA, Bradfield JP, Marchand L, Kim CE, Glessner JT, Grabs R, Casalunovo T, Taback SP, Frackelton EC, Lawson ML, Robinson LJ, Skraban R, Chiavacci RM, Stanley CA, Kirsch SE, Monos DS, Devoto M, Qu HQ, Polychronakos C:. A pediatric genome-wide association study identifies a type 1 diabetes locus on 12q13.. American Society of Human Genetics 57th Annual Meeting. Vol San Diego, CA,. 2007 October 23-27.
    Marroni F, Grazio D, Pattaro C, Devoto M, Pramstaller PP:. Variance components analysis provides indirect proof of environmental homogeneity in an isolated population.. American Society of Human Genetics 57th Annual Meeting. Vol San Diego, CA. 2007 October 23-27.
    Zhang HT, Sol-Church K, Rydbeck H, Stabley D, Spotila LD, Devoto M:. New candidate genes for osteoporosis identified by linkage and linkage disequilibrium analysis of a BMD QTL on chromosome 1p36.. Penn Center for Musculoskeletal Disorders 4th Annual Scientific Symposium,. Philadelphia, PA, (Winner 3rd Prize Best Poster Presentation). 2007 November 7.
    Baldassano RN, Bradfield J, Monos DS, Kim CE, Glessner JT, Casalunovo T, Frackelton EC, Otieno FG, Kanterakis S, Shaner JL, Smith RM, Eckert AW, Robinson LJ, Onyiah CC, Abrams DJ, Chiavacci RM, Skraban R, Devoto M, Grant SFA, Hakonarson H. Association of variants of the interleukin-23 receptor (IL23R) gene with susceptibility to pediatric Crohn’s disease.. Clin Gastroenterol Hepatol. Vol 5. 2007:972-976.
    Heerema, N.A., Raimondi, S.C., Anderson, J.R., Biegel, J., Camita, B.M., Cooley, L.D., Gaynon, P.S., Hirsch, B., Magenis, E.R., McGavran, L., Patil, S., Pettenati, M.J., Pullen, P., Rao, K., Roulston, D., Schneider, N.R., Shuster, J. J., Sanger, W., Sutcliffe, M.J., van Tuinen, P., Watson, M.S., and Carroll, A.J.. Specific extra chromosomes occur in a modal number dependent pattern in pediatric acute lymphoblastic leukemia.. Genes Chromosomes & Cancer. Vol 46. 2007:684-693.
    Lantieri F, Rydbeck H, Griseri P, Ceccherini I, Devoto M. Incorporating prior biological information in linkage studies increases power and limits multiple testing.. BMC Proceedings. Vol 1 (Suppl.1). 2007:S89.
    Elia, J., Devoto, M.. ADHD Genetics: 2007 update.. Curr Psychiatry Rep. Vol 9. 2007:434-439.
    Deglincerti A, De Giorgio R, Cefle K, Devoto M, Pippucci T, Castegnaro G, Panza E, Barbara G, Cogliandro RF, Mungan Z, Palanduz S, Corinaldesi R, Romeo G, Seri M, Stanghellini V.. A novel locus for syndromic chronic idiopathic intestinal pseudo-obstruction maps to chromosome 8q23-q24.. European Journal of Human Genetics. Vol 15(8) . 2007 Aug:889-97.
    Hakonarson H, Grant SFA, Bradfield JP, Marchand L, Kim CE, Glessner JT, Grabs R, Casalunovo T, Taback SP, rackelton EC, Lawson ML, Robinson LJ, Skraban R, Lu Y, Chiavacci RM, Stanley CASE, Rappaport EF, Orange JS, Monos DS, Devoto M, Qu HQ, Polychronakos C.. A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene.. Nature. Vol 448(7153) . 2007 Aug 2:591-4.
    Baldassano RN, Bradfield JP, Monos DS, Kim CE, Glessner JT, Casalunovo T, Frackelton EC, Otieno FG, Kanterakis S, Shaner JL, Smith RM, Eckert AW, Robinson LJ, Onyiah CC, Abrams DJ, Chiavacci RM, Skraban R, Devoto M, Grant SFA, Hakonarson H.. Association of the T300A non-synonymous variant of the ATG16L1 gene with susceptibility to paediatric Crohn's disease.. Gut. Vol 56(8) . 2007 Aug:1171-3.
    Balaci L, Spada MC, Olla N, Sole G, Loddo L, Anedda F, Natza S, Zuncheddu MA, Masch A, Altea D, Uda M, Pilia S, Sanna S, Masala M, Crisponi L, Fattori M, Devoto M, Doratiotto S, Rassu S, Mereu S, Giua E, Cadeddu NG, Atzeni R, Pelosi U, Corrias A, Perra R, Torrazza PL, Pirina P, Ginesu F, Marcias S, Schintu MG, Del Giacco GS, Manconi PE, Malerba G, Bisognin A, Trabetti E, Boner A, Pescollderungg L, Pignatti PF, Schlessinger D, Cao A, Pilia G.. IRAK-M is involved in the pathogenesis of early-onset persistent asthma.. American Journal of Human Genetics. Vol 80(6) . 2007 Jun:1103-14.
    Longo L, Panza E, Schena F, Seri M, Devoto M, Romeo G, Bini C, Pappalardo G, Tonini GP, Perri P. Genetic predisposition to familial neuroblastoma: identification of two novel genomic regions at 2p and 12p.. Hum Hered. Vol 63. 2007:205-211.
    Nallasamy S, Paluru PC, Devoto M, Wasserman NF, Zhou J, Young TL. Genetic linkage study of high-grade myopia in a Hutterite population from South Dakota.. Mol Vis. Vol 13. 2007:229-236.
    Ioannidis JPA, Ng MY, Sham PC, Zintzaras E, Lewis C, Deng HW, Econs MJ, Karasik D, Devoto M, Kammerer CM, Spector T, Andrew T, Cupples LA, Foroud T, Kiel DP, Koller D, Langdahl B, Mitchell BD, Peacock M, Recker R, Shen H, Sol-Church K, Spotila LD, Uitterlinden AG, Wilson SG, Kung AWC, Ralston SH. Meta-analysis of genome wide scans provides evidence for gender and site specific regulation of bone mass.. J Bone Miner Res. Vol 23. 2007:173-183.
    Lantieri F, Rydbeck H, Griseri P, Ceccherini I, Devoto M. Incorporating prior biological information in linkage studies increases power and limits multiple testing.. BMC Proceedings 1 (Suppl.1). 2007:BMC Proceedings 1 (Suppl.1).
    Pitzalis M, Zavattari P, Murru R, Deidda E, Zoledziewska M, Murru D, Moi L, Motzo C, Orrù V, Costa G, Solla E, Fadda E, Schirru L, Melis MC, Lai M, Mancosu C, Tranquilli S, Cuccu S, Rolesu M, Secci MA, Corongiu D, Contu D, Lampis R, Nucaro A, Pala G, Pacifico A, Maioli M, Frongia P, Chessa M, Ricciardi R, Lostia S, Marinaro AM, Milia AF, Landis N, Zedda MA, Whalen MB, Santoni F, Marrosu MG, Devoto M, Cucca F:. Genetic loci linked to type 1 diabetes and multiple sclerosis families in Sardinia.. BMC Medical Genetics. Vol 9. 2008:3.
    Capasso M, Devoto M, Hou C, Asgharzadeh S, Attiyeh E, Mosse Y, Bradfield J, Scott R, Diskin S, Jagannathan J, Glessner J, Kim C, London W, Seeger R, Grant S, Li H, Rahman N, Hakonarson H, Maris J. A GWAS identifies common variations in the BARD1 tumor suppressor gene predisposing to high-risk neuroblastoma.. American Society of Human Genetics 58th Annual Meeting, Philadelphia, PA. 2008 November 11-15:(platform presentation).
    Lantieri F, Takeda T, Moffit A, Deberardinis R, Burke J, Accardo J, Ambrosini PJ, Blum NJ, Brown LW, Berrettini W, Glessner J, Kim C, Devoto M, Hakonarson H, Elia J. Association analysis of SNPs located in regions linked to enuresis in children affected by both enuresis and ADHD.. American Society of Human Genetics 58th Annual Meeting, Philadelphia, PA. 2008 November 11-15.
    Zaheer Z, Devoto M. Severity Transmission Test: An approach to detect modifier genes affecting severity of disease.. American Society of Human Genetics 58th Annual Meeting, Philadelphia, PA. 2008 November 11-15.
    Zhang H, Sol-Church K, Rydbeck H, Stabley D, Spotila LD, Devoto M. New candidate genes for osteoporosis identified by linkage and linkage disequilibrium analysis of QTL on chromosome 1p36.. American Society of Human Philadelphia, PA. 2008 November 11-15.
    Gordon D, Devoto M:. Advances in family-based association analysis. Introduction.. Hum Hered. Vol 66. 2008:65-66.
    Pitzalis M, Zavattari P, Murru R, Deidda E, Zoledziewska M, Murru D, Moi L, Motzo C, Orrù V, Costa G, Solla E, Fadda E, Schirru L, Melis MC, Lai M, Mancosu C, Tranquilli S, Cuccu S, Rolesu M, Secci MA, Corongiu D, Contu D, Lampis R, Nucaro A, Pala G, Pacifico A, Maioli M, Frongia P, Chessa M, Ricciardi R, Lostia S, Marinaro AM, Milia AF, Landis N, Zedda MA, Whalen MB, Santoni F, Marrosu MG, Devoto M, Cucca F:. Genetic loci linked to type 1 diabetes and multiple sclerosis families in Sardinia.. BMC Medical Genetics. Vol 9. 2008:3.
    Hakonarson H, Qu HQ, Bradfield JP, Marchand L, Kim CE, Glessner JT, Grabs R, Casalunovo T, Taback SP, Frackelton EC, Eckert AW, Annaiah K, Lawson ML, Otieno FG, Santa E, Shaner JL, Smith RM, Onyiah CC, Skraban R, Chiavacci RM, Robinson LJ, Stanley CA, Kirsch SE, Devoto M, Monos DS, Grant SF, Polychronakos C. A novel susceptibility locus for type 1 diabetes on chr12q13 identified by a genome-wide association study. Diabetes. Diabetes. Vol 57. 2008:1143-1146.
    Maris JM, Mosse YP, Bradfield JP, Hou C, Monni S, Scott RH, Asgharzadeh S, Attiyeh EF, Diskin SJ, Laudenslager M, Winter C, Cole K, Glessner JT, Kim C, Frackelton EC, Casalunovo T, Eckert AW, Capasso M, Rappaport EF, McConville C, London WB, Seeger RC, Rahman N, Devoto M, Grant SFA, Li H, Hakonarson H. Chromosome 6p22 locus associated with clinically aggressive neuroblastoma.. N Engl J Med. Vol 358. 2008:2585-2593.
    Husain S, Yildirim-Toruner C, Rubio JP, Field J, The Southern MS Genetics Consortium, Schwalb M, Tolias PP, Cook S, Devoto M, Vitale E. Variants of ST8SIA1 are associated with risk of developing multiple sclerosis.. PLoS ONE. Vol 3. 2008:e2653.
    Specchia C, Scott K, Fortina P, Devoto M, Falkner B:. Association of a polymorphic variant of the adiponectin gene with insulin resistance in African Americans.. Clin Transl Sci. Vol 1. 2008:194-199.
    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. Vol 65. 2008:175-182.
    Capasso M, Mosse YP, Bradfield JP, Hou C, Scott RH, Attiyeh EF, Diskin SJ, Glessner JT, Kim C, Rappaport EF, Grant SFA, Li H, Hakonarson H, Devoto M, Maris JM:. A genome-wide association study identifies common variations in the BARD1 tumor suppressor gene predisposing to high-risk neuroblastoma.. 18th Annual Research Poster Day at the Children’s Hospital of Philadelphia, Philadelphia, PA, (Winner Best Poster Patient Oriented Research). 2008 February 27.
    Zhang HT, Sol-Church K, Rydbeck H, Stabley D, Spotila LD, Devoto M:. New candidate genes for osteoporosis identified by linkage and linkage disequilibrium analysis of a BMD QTL on chromosome 1p36.. 18th Annual Research Poster Day at Children’s Hospital of Philadelphia, Philadelphia, PA. 2008 February 27.
    Capasso M, Mosse YP, Bradfield JP, Hou C, Scott RH, Attiyeh EF, Diskin SJ, Glessner JT, Kim C, Rappaport EF, Grant SFA, Li H, Hakonarson H, Devoto M, Maris JM:. A genome-wide association study identifies common variations in the BARD1 tumor suppressor gene predisposing to high-risk neuroblastoma.. 1st annual Genes, Genomics and Pediatric Disease (GGPD) Research Affinity Group Retreat: "Emerging Technologies and Applications to Genetics Research". Philadelphia PA. 2008 March 14.
    Zhang HT, Sol-Church K, Rydbeck H, Stabley D, Spotila LD, Devoto M:. New candidate genes for osteoporosis identified by linkage and linkage disequilibrium analysis of a BMD QTL on chromosome 1p36.. The first annual Genes, Genomics and Pediatric Disease (GGPD) Research Affinity Group retreat: "Emerging Technologies and Applications to Genetics Research". Philadelphia PA. 2008 March 14.
    Capasso M, Mosse YP, Bradfield JP, Hou C, Scott RH, Attiyeh EF, Diskin SJ, Glessner JT, Kim C, Rappaport EF, Grant SFA, Li H, Hakonarson H, Devoto M, Maris JM:. A genome-wide association study identifies common variations in the BARD1 tumor suppressor gene predisposing to high-risk neuroblastom.. 5th Annual Joseph Stokes Jr. Research Institute Scientific Symposium, Philadelphia, PA. 2008 April 11.
    Zhang HT, Sol-Church K, Rydbeck H, Stabley D, Spotila LD, Devoto M:. New candidate genes for osteoporosis identified by linkage and linkage disequilibrium analysis of a BMD QTL on chromosome 1p36.. 5th annual Joseph Stokes Jr. Research Institute Scientific Symposium, Philadelphia PA. 2008 April 11.
    Diskin SJ, Hou C, Glessner JT, Attiyeh EF, Mosse YP, Bradfield JP, Kim C, Casalunovo T, Eckert A, Frackelton E, Devoto M, Grant SFA, Li H, Hakonarson H, Maris JM:. A genome-wide association study of copy number variants identifies neuroblastoma predisposition loci.. American Association for Cancer Research Annual Meeting, San Diego, CA. 2008 April 12-16.
    Mosse YP, Laudenslager M, Longo L, Perri P, Tonini GP, George R, Hanna M, Greulich H, Meyerson M, Look AT, McConville CM, Laureys G, Speleman F, Hou C, Kim C, Hakonarson H, Brodeur GM, Rappaport E, Devoto M, Maris JM:. Identification of ALK as the major familial neuroblastoma predisposition gene.. American Association for Cancer Research Annual Meeting, San Diego, CA. 2008 April 12-16.
    Mosse YP, Longo L, Laudenslager M, Perri P, Tonini GP, McConville CM, Van Roy N, Speleman F, Hou C, Kim C, Hakonarson H, Brodeur GM, Rappaport E, Devoto M, Maris JM:. A genome-wide linkage screen identifies a hereditary neuroblastoma predisposition locus at chromosome 2p23-24.. Advances in Neuroblastoma Research 2008, Chiba, Japan,. 2008 May 21-24.
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