Pubblicazioni

A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

2021 - NATURE COMMUNICATIONS
Coignard, J.; Lush, M.; Beesley, J.; O'Mara, T. A.; Dennis, J.; Tyrer, J. P.; Barnes, D. R.; McGuffog, L.; Leslie, G.; Bolla, M. K.; Adank, M. A.; Agata, S.; Ahearn, T.; Aittomaki, K.; Andrulis, I. L.; Anton-Culver, H.; Arndt, V.; Arnold, N.; Aronson, K. J.; Arun, B. K.; Augustinsson, A.; Azzollini, J.; Barrowdale, D.; Baynes, C.; Becher, H.; Bermisheva, M.; Bernstein, L.; Bialkowska, K.; Blomqvist, C.; Bojesen, S. E.; Bonanni, B.; Borg, A.; Brauch, H.; Brenner, H.; Burwinkel, B.; Buys, S. S.; Caldes, T.; Caligo, M. A.; Campa, D.; Carter, B. D.; Castelao, J. E.; Chang-Claude, J.; Chanock, S. J.; Chung, W. K.; Claes, K. B. M.; Clarke, C. L.; Bertrand, O.; Caputo, S.; Dupre, A.; Le Mentec, M.; Belotti, M.; Birot, A. -M.; Buecher, B.; Fourme, E.; Gauthier-Villars, M.; Golmard, L.; Houdayer, C.; Moncoutier, V.; de Pauw, A.; Saule, C.; Sinilnikova, O.; Mazoyer, S.; Damiola, F.; Barjhoux, L.; Verny-Pierre, C.; Leone, M.; Boutry-Kryza, N.; Calender, A.; Giraud, S.; Caron, O.; Guillaud-Bataille, M.; Bressac-de-Paillerets, B.; Bignon, Y. -J.; Uhrhammer, N.; Lasset, C.; Bonadona, V.; Berthet, P.; Vaur, D.; Castera, L.; Noguchi, T.; Popovici, C.; Sobol, H.; Bourdon, V.; Noguchi, T.; Remenieras, A.; Nogues, C.; Coupier, I.; Pujol, P.; Dumont, A.; Revillion, F.; Adenis, C.; Muller, D.; Barouk-Simonet, E.; Bonnet, F.; Bubien, V.; Sevenet, N.; Longy, M.; Toulas, C.; Guimbaud, R.; Gladieff, L.; Feillel, V.; Leroux, D.; Dreyfus, H.; Rebischung, C.; Peysselon, M.; Coron, F.; Faivre, L.; Baurand, A.; Jacquot, C.; Bertolone, G.; Lizard, S.; Prieur, F.; Lebrun, M.; Kientz, C.; Ferrer, S. F.; Mari, V.; Venat-Bouvet, L.; Delnatte, C.; Bezieau, S.; Mortemousque, I.; Coulet, F.; Colas, C.; Soubrier, F.; Warcoin, M.; Sokolowska, J.; Bronner, M.; Collonge-Rame, M. -A.; Damette, A.; Gesta, P.; Lallaoui, H.; Chiesa, J.; Molina-Gomes, D.; Ingster, O.; Gregory, H.; Miedzybrodzka, Z.; Morrison, P. J.; Ong, K. -R.; Donaldson, A.; Rogers, M. T.; Kennedy, M. J.; Porteous, M. E.; Brewer, C.; Davidson, R.; Izatt, L.; Brady, A.; Barwell, J.; Adlard, J.; Foo, C.; Lalloo, F.; Side, L. E.; Eason, J.; Henderson, A.; Walker, L.; Eeles, R. A.; Cook, J.; Snape, K.; Eccles, D.; Murray, A.; McCann, E.; Collee, J. M.; Conroy, D. M.; Czene, K.; Daly, M. B.; Devilee, P.; Diez, O.; Ding, Y. C.; Domchek, S. M.; Dork, T.; dos-Santos-Silva, I.; Dunning, A. M.; Dwek, M.; Eccles, D. M.; Eliassen, A. H.; Engel, C.; Eriksson, M.; Evans, D. G.; Fasching, P. A.; Flyger, H.; Fostira, F.; Friedman, E.; Fritschi, L.; Frost, D.; Gago-Dominguez, M.; Gapstur, S. M.; Garber, J.; Garcia-Barberan, V.; Garcia-Closas, M.; Garcia-Saenz, J. A.; Gaudet, M. M.; Gayther, S. A.; Gehrig, A.; Georgoulias, V.; Giles, G. G.; Godwin, A. K.; Goldberg, M. S.; Goldgar, D. E.; Gonzalez-Neira, A.; Greene, M. H.; Guenel, P.; Haeberle, L.; Hahnen, E.; Haiman, C. A.; Hakansson, N.; Hall, P.; Hamann, U.; Harrington, P. A.; Hart, S. N.; He, W.; Hogervorst, F. B. L.; Hollestelle, A.; Hopper, J. L.; Horcasitas, D. J.; Hulick, P. J.; Hunter, D. J.; Imyanitov, E. N.; Fox, S.; Campbell, I.; Spurdle, A.; Webb, P.; de Fazio, A.; Tassell, M.; Kirk, J.; Lindeman, G.; Price, M.; Southey, M.; Milne, R.; Deb, S.; Bowtell, D.; van der Hout, A. H.; van den Ouweland, A. M. W.; Mensenkamp, A. R.; van Deurzen, C. H. M.; Kets, C. M.; Seynaeve, C.; van Asperen, C. J.; Aalfs, C. M.; Gomez Garcia, E. B.; van Leeuwen, F. E.; de Bock, G. H.; Meijers-Heijboer, H. E. J.; Obdeijn, I. M.; Collee, J. M.; Gille, J. J. P.; Oosterwijk, J. C.; Wijnen, J. T.; van der Kolk, L. E.; Hooning, M. J.; Ausems, M. G. E. M.; Mourits, M. J. E.; Blok, M. J.; Rookus, M. A.; Adank, M. A.; van der Luijt, R. B.; van Cronenburg, T. C. T. E. F.; van der Pol, C. C.; Russell, N. S.; Siesling, S.; Overbeek, L.; Wijnands, R.; de Lange, J. L.; Clarke, C.; Graham, D.; Sachchithananthan, M.; Marsh, D.; Scott, R.; Baxter, R.; Yip, D.; Carpenter, J.; Davis, A.; Pathmanathan, N.; Simpson, P.; Jager, A.; Jakubowska, A.; James, P. A.; Jensen, U. B.; John, E. M.; Jones, M. E.; K

Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects

2020 - AMERICAN JOURNAL OF HUMAN GENETICS
Zhao, Y.; Diacou, A.; Johnston, H. R.; Musfee, F. I.; McDonald-McGinn, D. M.; McGinn, D.; Crowley, T. B.; Repetto, G. M.; Swillen, A.; Breckpot, J.; Vermeesch, J. R.; Kates, W. R.; Digilio, M. C.; Unolt, M.; Marino, B.; Pontillo, M.; Armando, M.; Di Fabio, Fabio; Vicari, S.; van den Bree, M.; Moss, H.; Owen, M. J.; Murphy, K. C.; Murphy, C. M.; Murphy, D.; Schoch, K.; Shashi, V.; Tassone, F.; Simon, T. J.; Shprintzen, R. J.; Campbell, L.; Philip, N.; Heine-Suner, D.; Garcia-Minaur, S.; Fernandez, L.; Antonarakis, S. E.; Biondi, M.; Boot, E.; Breetvelt, E.; Busa, T.; Butcher, N.; Buzzanca, A.; Carmel, M.; Cleynen, I.; Cutler, D.; Dallapiccola, B.; de la Fuente Sanches, M. A.; Epstein, M. P.; Evers, R.; Fernandez, L.; Fritsch, R.; Algas, F. G.; Guo, T.; Gur, R.; Hestand, M. S.; Heung, T.; Hooper, S.; Jin, A.; Kushan-Wells, L.; Laorden-Nieto, A. T.; Lattanzi, G.; Marshall, C.; McCabe, K.; Michaelovsky, E.; Ornstein, C.; Silversides, C.; Tran, O.; van Duin, E. D. A.; Vergaelen, E.; Warren, S. T.; Weinberger, R.; Weizman, A.; Zhang, Z.; Zwick, M.; Bearden, C. E.; Vingerhoets, C.; van Amelsvoort, T.; Eliez, S.; Schneider, M.; Vorstman, J. A. S.; Gothelf, D.; Zackai, E.; Agopian, A. J.; Gur, R. E.; Bassett, A. S.; Emanuel, B. S.; Goldmuntz, E.; Mitchell, L. E.; Wang, T.; Morrow, B. E.

Exome Sequencing in Individuals with Isolated Biliary Atresia

2020 - SCIENTIFIC REPORTS
Rajagopalan, R.; Tsai, E. A.; Grochowski, C. M.; Kelly, S. M.; Loomes, K. M.; Spinner, N. B.; Devoto, M.

Microdeletion in a FAAH pseudogene identified in a patient with high anandamide concentrations and pain insensitivity

2019 - BRITISH JOURNAL OF ANAESTHESIA
Habib, A. M.; Okorokov, A. L.; Hill, M. N.; Bras, J. T.; Lee, M. -C.; Li, S.; Gossage, S. J.; van Drimmelen, M.; Morena, M.; Houlden, H.; Ramirez, J. D.; Bennett, D. L. H.; Srivastava, D.; Cox, J. J.

Do pancreatic cancer and chronic pancreatitis share the same genetic risk factors? A PANcreatic Disease ReseArch (PANDoRA) consortium investigation

2018 - INTERNATIONAL JOURNAL OF CANCER
Campa, Rossella Domenica; Pastore, M; Capurso, G; Hackert, T; Di Leo, M; Izbicki, Jr; Khaw, Kt; Gioffreda, D; Kupcinskas, J; Pasquali, C; Macinga, P; Kaaks, R; Stigliano, S; Peeters, Ph; Key, Tj; Talar-wojnarowska, R; Vodicka, P; Valente, R; Vashist, Yk; Salvia, R; Papaconstantinou, I; Shimizu, Y; Valsuani, C; Zambon, Cf; Gazouli, M; Valantiene, I; Niesen, W; Mohelnikova-duchonova, B; Hara, K; Soucek, P; Malecka-panas, E; Bueno-de-mesquita, Hba; Johnson, T; Brenner, H; Tavano, F; Fogar, P; Ito, H; Sperti, C; Butterbach, K; Latiano, A; Andriulli, A; Cavestro, Gm; Busch, Orc; Dijk, F; Greenhalf, W; Matsuo, K; Lombardo, C; Strobel, O; König, Ak; Cuk, K; Strothmann, H; Katzke, V; Cantore, M; Mambrini, A; Oliverius, M; Pezzilli, R; Landi, S; Canzian, F.

Interferon lambda 4 rs368234815 TT>δG variant is associated with liver damage in patients with nonalcoholic fatty liver disease.

2017 - HEPATOLOGY
Petta, S; Valenti, Laura; Tuttolomondo, A; Dongiovanni, P; Pipitone, Rm; Cammà, C; Cabibi, D; Di Marco, V; Fracanzani, Al; Badiali, S; Nobili, V; Fargion, S; Grimaudo, S; Craxì, A.

Pharmacogenetics and aromatase inhibitor induced side effects in breast cancer patients

2017 - PHARMACOGENOMICS
Sini, V.; Botticelli, A.; Lunardi, G.; Gori, S.; Marchetti, P.

Cytokine genotype distribution in patients with periodontal disease and rheumatoid arthritis or diabetes mellitus

2016 - JOURNAL OF BIOLOGICAL REGULATORS & HOMEOSTATIC AGENTS
Crincoli, V; Ballini, A; Fatone, L; Di Bisceglie, M. B; Nardi, Gianna Maria; Grassi, F. R.

Candidate genetic modifiers for breast and ovarian cancer risk inBRCA1andBRCA2 mutation carriers

2015 - CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION
Peterlongo, P; Chang Claude, J; Moysich, Kb; Rudolph, A; Schmutzler, Rk; Simard, J; Soucy, P; Eeles, Ra; Easton, Df; Hamann, U; Wilkening, S; Chen, B; Rookus, Ma; Schmidt, Mk; van der Baan, Fh; Spurdle, Ab; Walker, Lc; Lose, F; Maia, At; Montagna, M; Matricardi, L; Lubinski, J; Jakubowska, A; Gómez Garcia, Eb; Olopade, Oi; Nussbaum, Rl; Nathanson, Kl; Domchek, Sm; Rebbeck, Tr; Arun, Bk; Karlan, By; Orsulic, S; Lester, J; Chung, Wk; Miron, A; Southey, Mc; Goldgar, De; Buys, Ss; Janavicius, R; Dorfling, Cm; van Rensburg, Ej; Ding, Yc; Neuhausen, Sl; Hansen, Tv; Gerdes, Am; Ejlertsen, B; Jønson, L; Osorio, A; Martínez Bouzas, C; Benitez, J; Conway, Ee; Blazer, Kr; Weitzel, Jn; Manoukian, S; Peissel, B; Zaffaroni, D; Scuvera, G; Barile, M; Ficarazzi, F; Mariette, F; Fortuzzi, S; Viel, A; Giannini, Giuseppe; Papi, L; Martayan, A; Tibiletti, Mg; Radice, P; Vratimos, A; Fostira, F; Garber, Je; Donaldson, A; Brewer, C; Foo, C; Evans, Dg; Frost, D; Eccles, D; Brady, A; Cook, J; Tischkowitz, M; Adlard, J; Barwell, J; Walker, L; Izatt, L; Side, Le; Kennedy, Mj; Rogers, Mt; Porteous, Me; Morrison, Pj; Platte, R; Davidson, R; Hodgson, Sv; Ellis, S; Cole, T; Embrace, ; Godwin, Ak; Claes, K; Van Maerken, T; Meindl, A; Gehrig, A; Sutter, C; Engel, C; Niederacher, D; Steinemann, D; Plendl, H; Kast, K; Rhiem, K; Ditsch, N; Arnold, N; Varon Mateeva, R; Wappenschmidt, B; Wang Gohrke, S; Bressac de Paillerets, B; Buecher, B; Delnatte, C; Houdayer, C; Stoppa Lyonnet, D; Damiola, F; Coupier, I; Barjhoux, L; Venat Bouvet, L; Golmard, L; Boutry Kryza, N; Sinilnikova, Om; Caron, O; Pujol, P; Mazoyer, S; Belotti, M; GEMO Study, Collaborators; Piedmonte, M; Friedlander, Ml; Rodriguez, Gc; Copeland, Lj; de la Hoya, M; Segura, Pp; Nevanlinna, H; Aittomäki, K; van Os, Ta; Meijers Heijboer, He; van der Hout, Ah; Vreeswijk, Mp; Hoogerbrugge, N; Ausems, Mg; van Doorn, Hc; Collée, Jm; Hebon, ; Olah, E; Diez, O; Blanco, I; Lazaro, C; Brunet, J; Feliubadalo, L; Cybulski, C; Gronwald, J; Durda, K; Jaworska Bieniek, K; Sukiennicki, G; Arason, A; Chiquette, J; Teixeira, Mr; Olswold, C; Couch, Fj; Lindor, Nm; Wang, X; Szabo, Ci; Offit, K; Corines, M; Jacobs, L; Robson, Me; Zhang, L; Joseph, V; Berger, A; Singer, Cf; Rappaport, C; Kaulich, Dg; Pfeiler, G; Tea, Mk; Phelan, Cm; Greene, Mh; Mai, Pl; Rennert, G; Mulligan, Am; Glendon, G; Tchatchou, S; Andrulis, Il; Toland, Ae; Bojesen, A; Pedersen, Is; Thomassen, M; Jensen, Ub; Laitman, Y; Rantala, J; von Wachenfeldt, A; Ehrencrona, H; Askmalm, Ms; Borg, Å; Kuchenbaecker, Kb; Mcguffog, L; Barrowdale, D; Healey, S; Lee, A; Pharoah, Pd; Chenevix Trench, G; Kconfab, Investigators; Antoniou, Ac; Friedman, E.

Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome

2015 - AMERICAN JOURNAL OF HUMAN GENETICS
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 TAUSSIG DE BODONIA, Bruno; Dallapiccola, Bruno; Philip, Nicole; Simon, Tony J; Roberts, Amy E; Piotrowicz, Małgorzata; 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.

Are pharmacogenomic biomarkers an effective tool to predict taxane toxicity and outcome in breast cancer patients? Literature review

2015 - CANCER CHEMOTHERAPY AND PHARMACOLOGY
De Iuliis, Francesca; Salerno, Gerardo; Taglieri, Ludovica; Scarpa, Susanna

Genome-wide maps of recombination and chromosome segregation in human oocytes and embryos show selection for maternal recombination rates

2015 - NATURE GENETICS
Ottolini, Christian S.; Newnham, Louise J.; Capalbo, Antonio; Natesan, Senthilkumar A.; Joshi, Hrishikesh A.; Cimadomo, Danilo; Griffin, Darren K.; Sage, Karen; Summers, Michael C.; Thornhill, Alan R.; Housworth, Elizabeth; Herbert, Alex D.; Rienzi, Laura; Ubaldi, Filippo M.; Handyside, Alan H.; Hoffmann, Eva R.

The genotype of MLH1 identifies a subgroup of follicular lymphoma patients who do not benefit from doxorubicin: FIL-FOLL study

2015 - HAEMATOLOGICA
Rossi, D.; Bruscaggin, A.; La Cava, P.; Galimberti, S.; Ciabatti, E.; Luminari, S.; Rigacci, L.; Tucci, A.; Pulsoni, A.; Bertoldero, G.; Vallisa, D.; Rusconi, C.; Spina, M.; Arcaini, L.; Angrilli, F.; Stelitano, C.; Merli, F.; Gaidano, G.; Federico, M.; Palumbo, G. A.

Role of polymorphisms of inducible nitric oxide synthase and endothelial nitric oxide synthase in idiopathic environmental intolerances

2015 - MEDIATORS OF INFLAMMATION
De Luca, Chiara; Gugliandolo, Agnese; Calabro', Carlo; Currò, Monica; Ientile, Riccardo; Raskovic, Desanka; Korkina, Ludmila; Caccamo, Daniela

Prognostic role of the CDNK1B V109G polymorphism in multiple endocrine neoplasia type 1

2015 - JOURNAL OF CELLULAR AND MOLECULAR MEDICINE
Circelli, Luisa; Ramundo, Valeria; Marotta, Vincenzo; Sciammarella, Concetta; Marciello, Francesca; Del Prete, Michela; Sabatino, Lina; Pasquali, Daniela; Izzo, Francesco; Scala, Stefania; Colao, Annamaria; Faggiano, Antongiulio; Colantuoni, Vittorio

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