Marcella Devoto, PhD

Papers

2017

Longo S, Cè E, Rampichini S, Devoto M, Venturelli M, Limonta E, Esposito F.: Correlation between stiffness and electromechanical delay components during muscle contraction and relaxation before and after static stretching. J Electromyogr Kinesiol.  33: 83-93, Apr 2017.

Kelsen JR, Dawany N, Conrad M, Devoto M.: Commentary on Mutations in Interleukin-10 Receptor and Clinical Phenotypes in Patients with Very Early-onset Inflammatory Bowel Disease: A Chinese VEO-IBD Collaboration Group Survey. Inflamm Bowel Dis.  23(4): 591- 592, Apr 2017.

Kelsen J, Dawany N, Conrad M, Sullivan K, Behrens E, Devoto M.: O-001 A Diagnostic Approach of Immune Dysregulation on Very Early-Onset IBD. Inflamm Bowel Dis.  23:  Suppl 1:S1. doi: 10.1097/MIB, Feb 2017.

Venturelli M, Cè E, Limonta E, Bisconti AV, Devoto M, Rampichini S, Esposito F.: Central and peripheral responses to static and dynamic stretch of skeletal muscle: mechano- and metaboreflex implications. J Appl Physiol (1985) 122(1): 112-120, Jan 1 2017.

2016

Tsai E, Gilbert M, Grochowski C, Underkoffler L, Meng H, Zhang H, Wang M, Shitaye H, Hankenson K, Piccoli D, Lin H, Kamath B, Devoto M, Spinner N, Loomes K: THBS2 is a candidate modifier of liver disease severity in Alagille syndrome. Cell Mol Gastroenterol Hepatol  2016.

Rajagopalan Ramakrishnan, Grochowski Christopher M, Gilbert Melissa A, Falsey Alexandra M, Coleman Karlene, Romero Rene, Loomes Kathleen M, Piccoli David A, Devoto Marcella, Spinner Nancy B: Compound heterozygous mutations in NEK8 in siblings with end-stage renal disease with hepatic and cardiac anomalies. American Journal of Medical Genetics. Part A 170: 750-3, 2016.

Mlynarski Elisabeth E, Xie Michael, Taylor Deanne, Sheridan Molly B, Guo Tingwei, Racedo Silvia E, McDonald-McGinn Donna M, Chow Eva W C, Vorstman Jacob, Swillen Ann, Devriendt Koen, Breckpot Jeroen, Digilio Maria Cristina, Marino Bruno, Dallapiccola Bruno, Philip Nicole, Simon Tony J, Roberts Amy E, Piotrowicz MaÅ‚gorzata, Bearden Carrie E, Eliez Stephan, Gothelf Doron, Coleman Karlene, Kates Wendy R, Devoto Marcella, Zackai Elaine, Heine-Suñer Damian, Goldmuntz Elizabeth, Bassett Anne S, Morrow Bernice E, Emanuel Beverly S: Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome. Human Genetics 135: 273-85, 2016.

Matera Ivana, Rusmini Marta, Guo Yiran, Lerone Margherita, Li Jiankang, Zhang Jianguo, Di Duca Marco, Nozza Paolo, Mosconi Manuela, Pini Prato Alessio, Martucciello Giuseppe, Barabino Arrigo, Morandi Francesco, De Giorgio Roberto, Stanghellini Vincenzo, Ravazzolo Roberto, Devoto Marcella, Hakonarson Hakon, Ceccherini Isabella: Variants of the ACTG2 gene correlate with degree of severity and presence of megacystis in chronic intestinal pseudo- obstruction. European Journal of Human Genetics 24: 1211-5, 2016.

Barthold Julia Spencer, Pugarelli Joan, MacDonald Madolyn L, Ren Jia, Adetunji Modupeore O, Polson Shawn W, Mateson Abigail, Wang Yanping, Sol-Church Katia, McCahan Suzanne M, Akins Robert E, Devoto Marcella, Robbins Alan K: Polygenic inheritance of cryptorchidism susceptibility in the LE/orl rat. Molecular Human Reproduction 22: 18-34, 2016.

Wang Y, Li J, Kolon TF, Olivant Fisher A, Figueroa TE, BaniHani AH, Hagerty JA, Gonzalez R, Noh PH, Chiavacci RM, Harden KR, Abrams DJ, Stabley D, Kim CE, Sol-Church K, Hakonarson H, Devoto M, Barthold JS.: Genomic copy number variation association study in Caucasian patients with nonsyndromic cryptorchidism. BMC Urol.  16(1): 62, Oct 21 2016.

2015

Zukosky Kristen, Meilleur Katherine, Traynor Bryan J, Dastgir Jahannaz, Medne Livija, Devoto Marcella, Collins James, Rooney Jachinta, Zou Yaqun, Yang Michele L, Gibbs J Raphael, Meier Markus, Stetefeld Joerg, Finkel Richard S, Schessl Joachim, Elman Lauren, Felice Kevin, Ferguson Toby A, Ceyhan-Birsoy Ozge, Beggs Alan H, Tennekoon Gihan, Johnson Janel O, Bönnemann Carsten G: Association of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended Family. JAMA Neurology 72(6): 689-98, 2015.

Tsai Ellen A, Grochowski Christopher M, Falsey Alexandra M, Rajagopalan Ramakrishnan, Wendel Danielle, Devoto Marcella, Krantz Ian D, Loomes Kathleen M, Spinner Nancy B: Heterozygous deletion of FOXA2 segregates with disease in a family with heterotaxy, panhypopituitarism, and biliary atresia. Human Mutation 36(6): 631-7, 2015.

Mlynarski Elisabeth E, Sheridan Molly B, Xie Michael, Guo Tingwei, Racedo Silvia E, McDonald-McGinn Donna M, Gai Xiaowu, Chow Eva W C, Vorstman Jacob, Swillen Ann, Devriendt Koen, Breckpot Jeroen, Digilio Maria Cristina, Marino Bruno, Dallapiccola Bruno, Philip Nicole, Simon Tony J, Roberts Amy E, Piotrowicz MaÅ‚gorzata, Bearden Carrie E, Eliez Stephan, Gothelf Doron, Coleman Karlene, Kates Wendy R, Devoto Marcella, Zackai Elaine, Heine-Suñer Damian, Shaikh Tamim H, Bassett Anne S, Goldmuntz Elizabeth, Morrow Bernice E, Emanuel Beverly S: Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome. American Journal of Human Genetics 96(5): 753-64, 2015.

Kelsen Judith R, Dawany Noor, Moran Christopher J, Petersen Britt-Sabina, Sarmady Mahdi, Sasson Ariella, Pauly-Hubbard Helen, Martinez Alejandro, Maurer Kelly, Soong Joanne, Rappaport Eric, Franke Andre, Keller Andreas, Winter Harland S, Mamula Petar, Piccoli David, Artis David, Sonnenberg Gregory F, Daly Mark, Sullivan Kathleen E, Baldassano Robert N, Devoto Marcella: Exome Sequencing Analysis Reveals Variants in Primary Immunodeficiency Genes in Patients With Very Early Onset Inflammatory Bowel Disease. Gastroenterology 2015.

Kelsen J, Dawany N, Martinez A, Grochowski C, Maurer K, Rappaport E, Piccoli D, Baldassano R, Mamula P, Sullivan K, Devoto M: A de novo whole gene deletion of XIAP detected by exome sequencing analysis in very early onset inflammatory bowel disease. BMC Gastroenterology 15, 2015.

Grochowski Christopher M, Rajagopalan Ramakrishnan, Falsey Alexandra M, Loomes Kathleen M, Piccoli David A, Krantz Ian D, Devoto Marcella, Spinner Nancy B: Exome sequencing reveals compound heterozygous mutations in ATP8B1 in a JAG1/NOTCH2 mutation-negative patient with clinically diagnosed Alagille syndrome. American Journal of Medical Genetics. Part A 167A (4): 891-3, 2015.

Barthold Julia Spencer, Wang Yanping, Kolon Thomas F, Kollin Claude, Nordenskjöld Agneta, Olivant Fisher Alicia, Figueroa T Ernesto, BaniHani Ahmad H, Hagerty Jennifer A, Gonzaléz Ricardo, Noh Paul H, Chiavacci Rosetta M, Harden Kisha R, Abrams Debra J, Kim Cecilia E, Li Jin, Hakonarson Hakon, Devoto Marcella: Pathway analysis supports association of nonsyndromic cryptorchidism with genetic loci linked to cytoskeleton-dependent functions. Human Reproduction  2015.

Barthold Julia S, Wang Yanping, Kolon Thomas F, Kollin Claude, Nordenskjöld Agneta, Olivant Fisher Alicia, Figueroa T Ernesto, BaniHani Ahmad H, Hagerty Jennifer A, Gonzalez Ricardo, Noh Paul H, Chiavacci Rosetta M, Harden Kisha R, Abrams Debra J, Kim Cecilia E, Mateson Abigail B, Robbins Alan K, Li Jin, Akins Robert E, Hakonarson Hakon, Devoto Marcella: Phenotype specific association of the TGFBR3 locus with nonsyndromic cryptorchidism. The Journal of Urology 193(5): 1637-45, 2015.

2014

Zou Y, Zwolanek D, Izu Y, Gandhy S, Schreiber G, Brockmann K, Devoto M, Tian Z, Hu Y, Veit G, Meier M, Stetefeld J, Hicks D, Straub V, Voermans N, Birk D, Barton E, Koch M, Bönnemann C: Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in human and mice  Hum Mol Genet 2014.

Tsai E, Grochowski C, Loomes K, Bessho K, Hakonarson H, Bezerra J, Russo P, Haber B, Spinner N, Devoto M: Replication of a GWAS signal in a Caucasian population implicates ADD3 in susceptibility to biliary atresia. Hum Genet 133: 235-243, 2014.

Diskin S, Capasso M, Diamond M, Oldridge D, Conkrite K, Bosse K, Russell M, Iolascon A, Hakonarson H, Devoto M, Maris J : Rare variants in TP53 influence neuroblastoma susceptibility. J Natl Cancer Inst 106, 2014.

Capasso M, Diskin S, Cimmino F, Totaro F, Petrosino G, Pezone L, Diamond M, McDaniel L, Hakonarson H, Iolascon A, Devoto M, Maris J: Common genetic variants in NEFL influence gene expression and neuroblastoma risk. Cancer Res 74: 6913-6924, 2014.

2013

Widdershoven J, Bowser M, Sheridan M, McDonald-McGinn D, Zackai E, Solot C, Kirschner  R, Beemer F, Morrow B, Devoto M, Emanuel B: A candidate gene approach to identify modifiers of the palatal phenotype in 22q11.2 deletion syndrome patients.  Int J Pediatr Otorhinolaryngol 77: 123-127, 2013.

Gallant E, Francey L, Fetting H, Kaur M, Hakonarson H, Clark D, Devoto M, Krantz ID.: Novel COCH mutation in a family with autosomal dominant late onset sensorineural hearing impairment and tinnitus.  Am J Otolaryngol  34: 230-235, 2013.

Feldman G, Parvizi J, Levenstien M, Scott K, Erickson J, Fortina P, Devoto M, Peters C: Developmental dysplasia of the hip: Linkage mapping and whole exome sequencing identify a shared variant in CX3CR1 in all affected members of a large multi-generation family.  J Bone Miner Res  2013.

Cui S, Leyva-Vega M, Tsai E, Eauclaire S, Glessner J, Hakonarson H, Devoto M, Haber B, Spinner N, Matthews R. :  Evidence from human and zebrafish that GPC1 is a biliary atresia susceptibility gene.  Gastroenterology  144: 1107-1115, 2013.

Capasso M, Diskin S, Totaro F, Longo L, De Mariano M, Russo R, Cimmino F, Hakonarson H, Tonini GP, Devoto M, Maris J, Iolascon A.: Replication of GWAS-identified neuroblastoma risk loci strengthens the role of BARD1 and affirms the cumulative effect of genetic variations on disease susceptibility.   Carcinogenesis 34: 605-611, 2013.

2012

Latorre V, Diskin S, Diamond M, Zhang H, Hakonarson H, Maris J, Devoto M: Replication of neuroblastoma SNP association at the BARD1 locus in African-Americans. Cancer Epidemiol Biomarkers Prev  21: 658-663, 2012.

Herman S, Guo T, McGinn D, Blonska A, Shanske A, Bassett A, Chow E, Bowser M, Sheridan M, Beemer F, Devriendt K, Swillen A, Breckpot J, Digilio M, Marino B, Dallapiccola B, Carpenter C, Zheng X, Johnson J, Chung J, Higgins A, Philip N, Simon T, Coleman K, Heine-Suner D, Rosell J, Kates W, Devoto M, Zackai E, Wang T, Shprintzen R, Emanuel B, Morrow B; and the International Chromosome 22q11.2 Consortium.: Overt cleft palate phenotype and TBX1 genotype correlations in velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients.  Am J Med Genet A  158A: 2781-2787, 2012.

Goldenberg PC, Calkins ME, Richard J, McDonald-McGinn D, Zackai E, Mitra N, Emanuel B, Devoto M, Borgmann-Winter K, Kohler C, Conroy CG, Gur R, Gur R: Computerized neurocognitive profile in young people with 22q11.2 deletion syndrome compared to youths with schizophrenia and at-risk for psychosis.  Am J Med Genet B Neuropsychiatr Genet  1598: 67-93, 2012.

Diskin S, Capasso M, Schnepp R, Cole K, Attiyeh E, Hou C, Diamond M, Carpenter E, Winter C, Lee H, Jagannathan J, Latorre V, Iolascon A, Hakonarson H, Devoto M, Maris J: Common variation at 6q16 within HACE1 and LIN28B influences susceptibility to neuroblastoma. Nature Genetics 2012.

Danjou F, Anni F, Fortina P, Perseu L, Satta S, Dessi C, Lai ME, Devoto M, Galanello R: : Genetic modifiers of beta-thalassemia and clinical severity as assessed by age at first transfusion.  Haematologica  97: 989-993, 2012.

Bosse K, Diskin S, Cole K, Wood A, Schnepp R, Norris G, Jagannathan J, Laquaglia M, Winter C, Diamond M, Hou C, Attiyeh E, Mosse Y, Dizin E, Zhang Y, Asgharzadeh S, Seeger R, Capasso M, Pawel B, Devoto M, Hakonarson H, Rappaport E, Irminger-Finger I, Maris J: Common variation at BARD1 results in the expression of an oncogenic isoform that influences neuroblastoma susceptibility and tumorigenicity.  Cancer Research  72: 2068-2078, 2012.

2011

Wang K, Diskin SJ, Zhang H, Attiyeh EF, Winter C, Hou C, Schnepp RW, Diamond M, Bosse K, Mayes PA, Glessner J, Kim C, Frackelton E, Garris M, Wang Q, Glaberson W, Chiavacci R, Nguyen L, Jagannathan J, Saeki N, Sasaki H, Grant SFA, Iolascon A, Mosse YP, Cole KA, Li H, Devoto M, McGrady PW, London WB, Capasso M, Rahman N, Hakonarson H, Maris JM: Integrative genomics identifies LMO1 as a neuroblastoma oncogene.  Nature 469: 216-220, 2011.

Nguyen L, Diskin S, Capasso M, Wang K, Diamond M, Glessner J, Kim C, Attiyeh E, Mosse Y, Cole K, Iolascon A, Devoto M, Hakonarson H, Li H, Maris J: Phenotype restricted genome-wide association study using a gene-centric approach identifies three low-risk neuroblastoma susceptibility loci.  PLoS Genetics  7: e1002026, 2011.

Guo T, McDonald McGinn D, Blonska A, Shanske A, Bassett A, Chow E, Bowser M, Sheridan M, Beemer F, Devriendt K, Swillen A, Breckpot J, Digilio MC, Marino B, Dallapiccola B, Carpenter C, Zheng X, Johnson J, Chung J, Higgins AM, Philip N, Simon T, Coleman K, Heine- Suner D, Rosell J, Kates W, Devoto M, Goldmuntz E, Zackai E, Wang T, Shprintzen R, Emanuel B, Morrow B, and the International Chromosome 22q11.2 Consortium: Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardiofacial/DiGeorge/22q11.2 deletion syndrome patients.  Hum Mutat  32: 1278-1289, 2011.

Elia J, Glessner J, Wang K, Takahashi N, Shtir C, Hadley D, Sleiman P, Zhang H, Kim C, Robison R, Lyon G, Flory J, Bradfield J, Imielinski M, Hou C, Frackelton E, Chiavacci R, Sakurai T, Rabin C, Middleton F, Thomas K, Garris M, Mentch F, Freitag C, Steinhausen H, Todorov A, Reif A, Rothenberger A, Franke B, Mick E, Roeyers H, Buitelaar J, Lesch K, Banaschewski T, Ebstein R, Mulas F, Oades R, Sergeant J, Sonuga-Barke E, Renner T, Romanos M, Romanos J, Warnke A, Walitza S, Meyer J, Pálmason H, Seitz C, Loo S, Smalley S, Biederman J, Kent L, Asherson P, Anney R, Gaynor J, Shaw P, Devoto M, White P, Grant S, Buxbaum J, Rapoport J, Williams N, Nelson S, Faraone S, Hakonarson, H.: Genome wide copy number variation study associates metabotropic glutamate receptor gene networks with Attention Deficit Hyperactivity Disorder.  Nat Genet  44: 78-84, 2011.

Devoto M, Specchia C, Laudenslager M, Longo L, Hakonarson H, Maris J, Mossé Y: : Genome- wide linkage analysis to identify genetic modifiers of ALK mutation penetrance in familial neuroblastoma.  Hum Hered  71: 135-139, 2011.

2010

Sleiman PMA, Flory J, Imielinski M, Bradfield JP, Annaiah K, Willis-Owen SAG, Wang K, Rafaels NM, Michel S, Bonnelykke K, Zhang H, Kim CE, Frackelton EC, Glessner JT, Hou C, Otieno FG, Santa E, Thomas K, Smith RM, Glaberson WR, Garris M, Chiavacci RM, Beaty TH, Ruczinski I, Orange J, Allen J, Spergel JM, Grundmeier R, Mathias RA, Christie JD, von Mutius E, Cookson WOC, Kabesch M, Moffatt MF, Grunstein MM, Barnes KC, Devoto M, Magnusson M, Li H, Grant SFA, Bisgaard H, Hakonarson H: Variants of DENND1B associated with asthma in children.  N Engl J Med  Page: (In Press), 2010.

Lantieri F, Glessner JT, Hakonarson H, Elia J, Devoto M: Analysis of GWAS top hits in ADHD suggests association to two polymorphisms located in genes expressed in the cerebellum.  Am J Med Genet B Neuropsychiatr Genet  153B: 1127-1133, 2010.

Feldman G, Dalsey C, Fertala K, Azimi D, Fortina P, Devoto M, Pacifici M, Parvizi J: Identification of a 4 Mb region on chromosome 17q21 linked to developmental dysplasia of the hip in one 18-member, multigeneration family. Otto Aufranc Award. Clin Orthop Relat Res  468: 337-44, 2010.

Elia J, Gai X, Xie HM, Perin JC, Wang L, Geiger E, Glessner JT, D'arcy M, deBeradinis R, Frackelton E, Kim C, Lantieri F, Muganga BM, Wang L, Takeda T, Rappaport EF, Grant SFA, Berrettini W, Devoto M, Shaikh TH, Hakonarson H, White PS: Rare structural variants found in Attention-Deficit Hyperactivity Disorder are preferentially associated with neurodevelopmental genes.  Mol Psychiatry  Page: (In Press), 2010.

2009

Zhang H, Sol-Church K, Rydbeck H, Stabley D, Spotila LD, Devoto M: High resolution linkage and linkage disequilibrium analyses of chromosome 1p36 SNPs identify new positional candidate genes for low bone mineral density.  Osteoporos Int  20: 341-346, 2009.

Mossé YP, Laudenslager M, Longo L, Cole KA, Wood A, Attiyeh EF, Laquaglia MJ, Lynch JE, Perri P, Hakonarson H, Torkamani A, Schork NJ, Brodeur GM, Tonini GP, Rappaport E, Devoto M, Maris JM: Identification of ALK as a major familial neuroblastoma predisposition gene.  Nature 455: 930-935, 2009.

Lantieri F, Jhun MA, Park J, Park T, Devoto M: Comparative analysis of different approaches for dealing with candidate regions in the context of a genome-wide association study.  BMC Proceedings  3(Suppl 7): S93, 2009.

Feldman G, Dalsey C, Fertala K, Azimi D, Fortina P, Devoto M, Pacifici M, Parvizi J: Identification of a 4 Mb region on chromosome 17q21 linked to developmental dysplasia of the hip in one 18-member, multigeneration family. Clin Orthop Relat Res  Page: In press, 2009.

Elia J, Takeda T, Deberardinis R, Burke J, Accardo J, Ambrosini PJ, Blum NJ, Brown LW, Lantieri F, Berrettini W, Devoto M, Hakonarson H: Nocturnal enuresis: A suggestive endophenotype marker for a subgroup of inattentive attention-deficit/hyperactivity disorder.  J Pediatr  15: 239-244, 2009.

Elia J, Capasso M, Zaheer Z, Lantieri F, Ambrosini P, Berrettini W, Devoto M, Hakonarson H: Candidate gene analysis in an on-going genome-wide association study of ADHD: Suggestive association signals in ADRA1A.   Psychiatr Genet 19: 134-141, 2009.

Diskin SJ, Hou C, Glessner JT, Attiyeh EF, Laudenslager M, Bosse K, Cole K, Mosse YP, Wood A, Lynch JE, Pecor K, Diamond M, Winter C, Wang K, Kim C, Geiger EA, McGrady PW, Blakemore AIF, London WB, Shaikh TH, Bradfield J, Grant SFA, Li H, Devoto M, Rappaport ER, Hakonarson H, Maris JM: Copy number variation at 1q21.1 associated with neuroblastoma.  Nature  459: 987-991, 2009.

Capasso M, Devoto M, Hou C, Asgharzadeh S, Glessner JY, Attiyeh EF, Mosse YP, Diskin SJ, Cole KA, Bosse K, Diamond M, Laudenslager M, Winter C, Bradfield JP, Scott RH, Jagannathan J, Kim C, McConville C, London WB, Seeger RC, Grant SFA, Li H, Rahman N, Rappaport E, Hakonarson H, Maris JM: Common variations in BARD1 influence susceptibility to high-risk neuroblastoma.  Nat Genet  41: 718-723, 2009.

2008

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  1: 194-199, 2008.

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  9: 3, 2008.

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  65: 175-182, 2008.

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  358: 2585-2593, 2008.

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  3: e2653, 2008.

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  57: 1143-1146, 2008.

2007

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 13: 229-236, 2007.

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 63: 205-211, 2007.

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): S89, 2007.

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  23: 173-183, 2007.

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  5: 972-976, 2007.

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, 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 448(7153): 591-4, Aug 2 2007.

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 15(8): 889-97, Aug 2007.

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 56(8): 1171-3, Aug 2007.

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 80(6): 1103-14, Jun 2007.

2006

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 23: 497-506, 2006.

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 101: 318-325, 2006.

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  70: 12-26, 2006.

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 124(4): 552-7, Apr 2006.

2005

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 22(11-12): 1129-38, Dec 2005.

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 138(1): 27-31, Sep 15 2005.

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 46(7): 2300-7, Jul 2005.

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 13(6): 781-8, Jun 2005.

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 25(2): 189-95, Feb 2005.

2004

Sharan K, Surrey S, Ballas SK, Borowski MK, Devoto M, Wang KF, Sandler E, Keller MA: Reply to 'Gender-specific disease modification by NOS3'. Brit J Haematol  126: 161, 2004.

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 14(4-6): 369-76, 2004.

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 53(12): 3286-91, Dec 2004.

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 75(4): 610-23, Oct 2004

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 36(6): 631-5, Jun 2004.

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 124(2): 240-3, Jan 2004.

2003

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 40(11): 837-41, Nov 2003.

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 49(10): 1675-9, Oct 2003.

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 40(9): 714-8, Sep 2003.

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 73(2): 140-6, Aug 2003.

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 44(5): 1830-6, May 2003.

2002

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 21(54): 8356-60, Nov 28 2002.

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 88(5): 763-7, Nov 2002.

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 71(4): 969-74, Oct 2002.

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 39(5): 332-4, May 2002.

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 11(3): 295-300, Feb 1 2002.

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 10(2): 95-9, Feb 2002.

2001

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 21( Suppl 1): S198-203, 2001.

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 10(21): 2447 -52, Oct 1 2001.

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 103(1): 1-8, Sep 15 2001.

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 101(2): 120-9, Jun 15 2001.

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 38(3): 182-5, Mar 2001.

2000

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 8(11): 846-52, Nov 2000.

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 8(10): 777-82, Oct 2000.

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 8(9): 721-4, Sep 2000.

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 25(1): 17-9, May 2000.

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 63(2): 271-8, Jan 15 2000.

1999

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 7(5): 567-73, Jul 1999.

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 64(2): 586-93, Feb 1999.

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 64(1): 136- 45, Jan 1999.

1998

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 12(3): 172-6, 1998.

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 6(6): 629-34, Nov-Dec 1998.

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 103 (4): 428-34, Oct 1998.

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 50(3): 799-801, Mar 1998.

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 6(2): 151-7, Mar-Apr 1998.

1997

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 61(5): 1059-66, Nov 1997.

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 70(3): 131-43, May 30 1997.

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 349 (9062): 1353-7, May 10 1997.

1996

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 59(1): 152-8, Jul 1996.

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 5 (7): 1051-4, Jul 1996.

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 2 (3): 313-24, May 1996.

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 58(4): 743-8, Apr 1996.

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 62(2): 195-8, Mar 15 1996.

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 379(6564): 445-9, Feb 1 1996.

1995

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 5 (1): 23-7, 1995.

Figus A, Angius A, Loudianos G, Bertini C, Dessi V, Loi A, Deiana M, Lovicu M, Olla N, Sole G, De Virgilis S, Lilliu F, Farci AM, Nurchi AM, Giacchino R, Barabino A, Marassi MG, Zancan L, Greggio NA, Marcellini M, Solinas A, Deplano A, Barbera C, Devoto M, et al: : Molecular pathology and haplotype analysis of Wilson's disease in Mediterranean population.  Am J Hum Genet  57: 1318-1324, 1995.

European Working Group on Cystic Fibrosis Genetics: No evidence for segregation distortion of cystic fibrosis alleles among sibs of cystic fibrosis patients.  Eur J Hum Genet  3: 324-325, 1995.

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 4(11): 2089-96, Nov 1995.

1994

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 54(2): 113-21, Jun 15 1994.

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 45(3): 135-9, Mar 1994.

1993

Tanzi RE, Petrukhin K, Chernov I, Pellequer JL, Wasco W, Ross B, Romano DM, Parano E, Pavone L, Brzustowicz LM, Devoto M, Peppercorn J, Bush AI, Sterlieb I, Pirastu M, Gusella JF, Evgrafov O, Penchaszadeh GK, Honig B, Edelman IS, Soares MB, Scheinberg IH, Gilliam TC: The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene.  Nat Genet  5: 344-350, 1993.

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 5(4): 338-43, Dec 1993.

Lyonnet S, Bolino A, Pelet A, Abel L, Nihoul Fekete C, Briard ML, Mok Sui V, Kaariainen H, Martucciello G, Lerone M, Puliti A, Yin L, Weissenbach J, Devoto M, Munnich A, Romeo G: : A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10. Nat Genet  4: 346-350, 1993.

Casey, B.  Devoto, M.  Jones, K L.  Ballabio, A.: Mapping a gene for familial situs abnormalities to human chromosome Xq24-q27.1. Nature Genetics 5(4): 403-7, Dec 1993.

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 1(4): 269-79, 1993.

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 2(11): 1803-8, Nov 1993.

Borgo, G.  Cabrini, G.  Mastella, G.  Ronchetto, P.  Devoto, M.  Romeo, G.: Phenotypic intrafamilial heterogeneity in cystic fibrosis.[see comment]. Clinical Genetics 44(1): 48-9, Jul 1993.

1992

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 1(4): 314-9, 1992.

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 327(1): 57, Jul 2 1992.

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 89(3): 305-6, May 1992.

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 12(2): 417-8, Feb 1992.

1991

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 28(10): 686-90, Oct 1991.

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 49(4): 903-4, Oct 1991.

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 87(4): 516-7, Aug 1991.

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 48(6): 1127- 32, Jun 1991.

Kalaydjieva, L.  Dworniczak, B.  Aulehla-Scholz, C.  Devoto, M.  Romeo, G.  Stuhrmann, M.  Horst, J.: Phenylketonuria mutation in southern Europeans. Lancet 337(8745): 865, Apr 6 1991.

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 48(4): 815-6, Apr 1991.

1990

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  85: 436- 442, 1990.

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 13(3): 292-4, 1990.

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 86(1): 69-72, Nov 1990.

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 85(4): 423-4, Sep 1990.

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 85(4): 400-2, Sep 1990.

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 85(4): 393-4, Sep 1990.

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 85(3): 275-8, Aug 1990.

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 46(5): 1004-5, May 1990.

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 84(5): 435-8, Apr 1990.

1989

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 5(4): 894-8, Nov 1989.

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 26(2): 78-82, Feb 1989.

1988

Kitzis A, et al. (among others Devoto M): Unusual segregation of cystic fibrosis alleles.  Nature  336: 316, 1988.

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 43: 23-28, 1988.

Barabino A, Haupt R, Rosati U, Scarsi P, Boni L, Devoto M, Poggi O, Durand : La ricerca pediatrica in Italia: indagine sulla produzione nel triennio 1983 1985.  Riv Ital Ped (IJP)  14: 408-411, 1988.

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 8(8): 619 -24, Oct 1988.

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 43(4): 471-5, Oct 1988.

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 2(8601): 8-11, Jul 2 1988.

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 147(4): 412-5, May 1988.

1987

Tonini, G P.  Verdona, G.  Devoto, M.  Sansone, R.  Cornaglia-Ferraris, P.: N-myc oncogene amplification and catecholamine metabolism in patients with neuroblastoma. Lancet 2(8562): 795, Oct 3 1987.

1986

Vitale, E.  Devoto, M.  Mastella, G.  Romeo, G.: Homogeneity of cystic fibrosis in Italy. American Journal of Human Genetics 39(6): 832-6, Dec 1986.

Romeo, G.  Devoto, M.  Bianco, M.: Homogeneity vs. heterogeneity of cystic fibrosis in Italy. American Journal of Human Genetics 39(2): 283-4, Aug 1986.

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 8(3 Pt 1): 245-8, Jun 1986.

1985

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 70(3): 256-8, 1985.

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 37(2): 338-49, Mar 1985.

Posters and Presentations

Invited Lectures

2016

Devoto, M. "Genetics of neuroblastoma: studies of the familial form and GWAS of sporadic cases", Polaris Technology Park, Pula (CA), Italy, Jun, 2016.

Devoto, M. "Genetics of neuroblastoma: studies of the familial form and GWAS of sporadic cases", NIA, Baltimore, MD, Mar, 2016.

2015

Devoto, M. "Genomic analysis of neuroblastoma in African American children", Columbia University, New York, NY, Nov, 2015.

Devoto, M. "Linkage analysis and disease genetics", Peking University, Beijing, China, Aug, 2015.