Pubblicazioni

A two gene-based risk score predicts alcoholic cirrhosis development in males with at-risk alcohol consumption

2019 - THE APPLICATION OF CLINICAL GENETICS

Mancina, Rosellina Margherita; Ferri, Flaminia; Farcomeni, Alessio; Molinaro, Antonio; Maffongelli, Angela; Mischitelli, Monica; Poli, Edoardo; Parlati, Lucia; Burza, Maria Antonella; De Santis, Adriano; Attilia, Fabio; Rotondo, Claudia; Rando, Maria Margherita; Attilia, Maria Luisa; Ceccanti, Mauro; Corradini, Stefano Ginanni

LTBP2-related âMarfan-likeâ phenotype in two Roma/Gypsy subjects with the LTBP2 homozygous p.R299X variant

2019 - AMERICAN JOURNAL OF MEDICAL GENETICS. PART A

Morlino, Silvia; Alesi, Viola; CalÃ¬, Federica; Lepri, Francesca Romana; Secinaro, Aurelio; Grammatico, Paola; Novelli, Antonio; Drago, Fabrizio; Castori, Marco; Baban, Anwar

Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment

2019 - AMERICAN JOURNAL OF HUMAN GENETICS

Salpietro, Vincenzo; Malintan, Nancy T.; Llano-Rivas, Isabel; Spaeth, Christine G.; Efthymiou, Stephanie; Striano, Pasquale; Vandrovcova, Jana; Cutrupi, Maria C.; Chimenz, Roberto; David, Emanuele; Di Rosa, Gabriella; Marce-Grau, Anna; Raspall-Chaure, Miquel; Martin-Hernandez, Elena; Zara, Federico; Minetti, Carlo; Kriouile, Yamna; El Khorassani, Mohamed; Aguennouz, Mhammed; Karashova, Blagovesta; Avdjieva, Daniela; Kathom, Hadil; Tincheva, Radka; Van Maldergem, Lionel; Nachbauer, Wolfgang; Boesch, Sylvia; Arning, Larissa; Timmann, Dagmar; Cormand, Bru; PÃ©rez-DueÃ±as, Belen; Pironti, Erica; Goraya, Jatinder S.; Sultan, Tipu; Kirmani, Salman; Ibrahim, Shahnaz; Jan, Farida; Mine, Jun; Banu, Selina; Veggiotti, Pierangelo; Ferrari, Michel D.; Verrotti, Alberto; Marseglia, Gian Luigi; Savasta, Salvatore; Garavaglia, Barbara; Scuderi, Carmela; Borgione, Eugenia; Dipasquale, Valeria; Cutrupi, Maria Concetta; Portaro, Simona; Sanchez, Benigno Monteagudo; Pineda-Marfa, Mercedes; Munell, Francina; Macaya, Alfons; Boles, Richard; Heimer, Gali; Papacostas, Savvas; Manole, Andreea; Malintan, Nancy; Zanetti, Maria Natalia; Hanna, Michael G.; Rothman, James E.; Kullmann, Dimitri M.; Houlden, Henry; Bello, Oscar D.; De Zorzi, Rita; Fortuna, Sara; Dauber, Andrew; Alkhawaja, Mariam; Mankad, Kshitij; Vitobello, Antonio; Thomas, Quentin; Mau-Them, Frederic Tran; Faivre, Laurence; Martinez-Azorin, Francisco; Prada, Carlos E.; Krishnakumar, Shyam S.

Patient experience and utility of genetic information: a cross-sectional study among patients tested for cancer susceptibility and thrombophilia

2018 - EUROPEAN JOURNAL OF HUMAN GENETICS

DâAndrea, Elvira; Lagerberg, Tyra; de Vito, Corrado; Pitini, Erica; Marzuillo, Carolina; Massimi, Azzurra; Vacchio, Maria Rosaria; Grammatico, Paola; Villari, Paolo

Clinical spectrum of Kabuki-like syndrome caused by HNRNPK haploinsufficiency

2018 - CLINICAL GENETICS

Dentici, Maria Lisa; Barresi, Sabina; Niceta, Marcello; Pantaleoni, Francesca; Pizzi, Simone; Dallapiccola, Bruno; Tartaglia, Marco; Digilio, Maria Cristina

Whole exome sequencing identifies a germline MET mutation in two siblings with hereditary wild-type RET medullary thyroid cancer

2018 - HUMAN MUTATION

Sponziello, Marialuisa; Benvenuti, Silvia; Gentile, Alessandra; Pecce, Valeria; Rosignolo, Francesca; VirzÃ¬, Anna Rita; Milan, Melissa; Comoglio, Paolo M.; Londin, Eric; Fortina, Paolo; Barnabei, Agnese; Appetecchia, Marialuisa; Marandino, Ferdinando; Russo, Diego; Filetti, Sebastiano; Durante, Cosimo; Verrienti, Antonella

KAT3B-p300 and H3AcK18/H3AcK14 levels are prognostic markers for kidney ccRCC tumor aggressiveness and target of KAT inhibitor CPTH2

2018 - CLINICAL EPIGENETICS

Cocco, Elisa; Leo, Manuela; Canzonetta, Claudia; Di Vito, Serena; Mai, Antonello; Rotili, Dante; Di Napoli, Arianna; Vecchione, Andrea; De Nunzio, Cosimo; Filetici, Patrizia; Stoppacciaro, Antonella

Congenital heart diseases and cardiovascular abnormalities in 22q11.2 deletion syndrome: From well-established knowledge to new frontiers

2018 - AMERICAN JOURNAL OF MEDICAL GENETICS. PART A

Unolt, Marta; Versacci, Paolo; Anaclerio, Silvia; Lambiase, Caterina; Calcagni, Giulio; Trezzi, Matteo; Carotti, Adriano; Crowley, Terrence Blaine; Zackai, Elaine H.; Goldmuntz, Elizabeth; Gaynor, James William; Digilio, Maria Cristina; Mcdonald-Mcginn, Donna M.; Marino, Bruno

Network-based approaches to explore complex biological systems towards network medicine

2018 - GENES

Fiscon, Giulia; Conte, Federica; Farina, Lorenzo; Paci, Paola

Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome

2018 - AMERICAN JOURNAL OF HUMAN GENETICS

Bauer, Christiane K.; Calligari, Paolo; Radio, Francesca Clementina; Caputo, Viviana; Dentici, Maria Lisa; Falah, Nadia; High, Frances; Pantaleoni, Francesca; Barresi, Sabina; Ciolfi, Andrea; Pizzi, Simone; Bruselles, Alessandro; Person, Richard; Richards, Sarah; Cho, Megan T.; Claps Sepulveda, Daniela J.; Pro, Stefano; Battini, Roberta; Zampino, Giuseppe; Digilio, Maria Cristina; Bocchinfuso, Gianfranco; Dallapiccola, Bruno; Stella, Lorenzo; Tartaglia, Marco

A synonymous RET substitution enhances the oncogenic effect of an in-cis missense mutation by increasing constitutive splicing efficiency

2018 - PLOS GENETICS

Pecce, Valeria; Sponziello, Marialuisa; Damante, Giuseppe; Rosignolo, Francesca; Durante, Cosimo; Lamartina, Livia; Grani, Giorgio; Russo, Diego; di Gioia, Cira Rosaria; Filetti, Sebastiano; Verrienti, Antonella

Commentary: The histone demethylase Phf2 acts as a molecular checkpoint to prevent NAFLD progression during obesity

2018 - FRONTIERS IN GENETICS

Barbaro, Barbara; Romito, Ilaria; Alisi, Anna

Primary lymphedema and other lymphatic anomalies are associated with 22q11.2 deletion syndrome

2018 - EUROPEAN JOURNAL OF MEDICAL GENETICS

Unolt, Marta; Barry, Jessica; Digilio, Maria Cristina; Marino, Bruno; Bassett, Anne; Oechslin, Erwin; Low, David W.; Belasco, Jean B.; Kallish, Staci; Sullivan, Kathleen; Zackai, Elaine H.; McDonald-McGinn, Donna M.

Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome

2018 - EUROPEAN JOURNAL OF HUMAN GENETICS

Brancati, Francesco; Camerota, Letizia; Colao, Emma; Vega-Warner, Virginia; Zhao, Xiangzhong; Zhang, Ruixiao; Bottillo, Irene; Castori, Marco; Caglioti, Alfredo; Sangiuolo, Federica; Novelli, Giuseppe; Perrotti, Nicola; Otto, Edgar A.; Taruscio, Domenica; Salvatore, Marco; De Stefano, Maria Chiara; Censi, Federica; Floridia, Giovanna; Brancati, Francesco; Daina, Erica; Iatropoulos, Paraskevas; Ferlini, Alessandra; Roccatello, Dario; Baldovino, Simone; Menegatti, Elisa; Bembi, Bruno

Stem cell spheroids and ex vivo niche modeling. Rationalization and scaling-up

2017 - JOURNAL OF CARDIOVASCULAR TRANSLATIONAL RESEARCH

Chimenti, Isotta; Massai, Diana; Morbiducci, Umberto; Beltrami, Antonio Paolo; Pesce, Maurizio; Messina, Elisa

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

2017 - AMERICAN JOURNAL OF HUMAN GENETICS

Carss, Keren J.; Arno, Gavin; Erwood, Marie; Stephens, Jonathan; Sanchis Juan, Alba; Hull, Sarah; Megy, Karyn; Grozeva, Detelina; Dewhurst, Eleanor; Malka, Samantha; Plagnol, Vincent; Penkett, Christopher; Stirrups, Kathleen; Rizzo, Roberta; Wright, Genevieve; Josifova, Dragana; Bitner Glindzicz, Maria; Scott, Richard H.; Clement, Emma; Allen, Louise; Armstrong, Ruth; Brady, Angela F.; Carmichael, Jenny; Chitre, Manali; Henderson, Robert H. H.; Hurst, Jane; Maclaren, Robert E.; Murphy, Elaine; Paterson, Joan; Rosser, Elisabeth; Thompson, Dorothy A.; Wakeling, Emma; Ouwehand, Willem H.; Michaelides, Michel; Moore, Anthony T.; Aitman, Timothy; Alachkar, Hana; Ali, Sonia; Allen, Louise; Allsup, David; Ambegaonkar, Gautum; Anderson, Julie; Antrobus, Richard; Armstrong, Ruth; Arno, Gavin; Arumugakani, Gururaj; Ashford, Sofie; Astle, William; Attwood, Antony; Austin, Steve; Bacchelli, Chiara; Bakchoul, Tamam; Bariana, Tadbir K.; Baxendale, Helen; Bennett, David; Bethune, Claire; Bibi, Shahnaz; Bitner Glindzicz, Maria; Bleda, Marta; Boggard, Harm; Bolton Maggs, Paula; Booth, Claire; Bradley, John R.; Brady, Angie; Brown, Matthew; Browning, Michael; Bryson, Christine; Burns, Siobhan; Calleja, Paul; Canham, Natalie; Carmichael, Jenny; Carss, Keren; Caulfield, Mark; Chalmers, Elizabeth; Chandra, Anita; Chinnery, Patrick; Chitre, Manali; Church, Colin; Clement, Emma; Clements Brod, Naomi; Clowes, Virginia; Coghlan, Gerry; Collins, Peter; Cooper, Nichola; Creaser Myers, Amanda; Dacosta, Rosa; Daugherty, Louise; Davies, Sophie; Davis, John; De Vries, Minka; Deegan, Patrick; Deevi, Sri V. V.; Deshpande, Charu; Devlin, Lisa; Dewhurst, Eleanor; Doffinger, Rainer; Dormand, Natalie; Drewe, Elizabeth; Edgar, David; Egner, William; Erber, Wendy N.; Erwood, Marie; Everington, Tamara; Favier, Remi; Firth, Helen; Fletcher, Debra; Flinter, Frances; Fox, James C.; Frary, Amy; Freson, Kathleen; Furie, Bruce; Furnell, Abigail; Gale, Daniel; Gardham, Alice; Gattens, Michael; Ghali, Neeti; Ghataorhe, Pavandeep K.; Ghurye, Rohit; Gibbs, Simon; Gilmour, Kimberley; Gissen, Paul; Goddard, Sarah; Gomez, Keith; Gordins, Pavel; GrÃ¤f, Stefan; Greene, Daniel; Greenhalgh, Alan; Greinacher, Andreas; Grigoriadou, Sofia; Grozeva, Detelina; Hackett, Scott; Hadinnapola, Charaka; Hague, Rosie; Haimel, Matthias; Halmagyi, Csaba; Hammerton, Tracey; Hart, Daniel; Hayman, Grant; Heemskerk, Johan W. M.; Henderson, Robert; Hensiek, Anke; Henskens, Yvonne; Herwadkar, Archana; Holden, Simon; Holder, Muriel; Holder, Susan; Hu, Fengyuan; Huissoon, Aarnoud; Humbert, Marc; Hurst, Jane; James, Roger; Jolles, Stephen; Josifova, Dragana; Kazmi, Rashid; Keeling, David; Kelleher, Peter; Kelly, Anne M.; Kennedy, Fiona; Kiely, David; Kingston, Nathalie; Koziell, Ania; Krishnakumar, Deepa; Kuijpers, Taco W.; Kumararatne, Dinakantha; Kurian, Manju; Laffan, Michael A.; Lambert, Michele P.; Allen, Hana Lango; Lawrie, Allan; Lear, Sara; Lees, Melissa; Lentaigne, Claire; Liesner, Ri; Linger, Rachel; Longhurst, Hilary; Lorenzo, Lorena; Machado, Rajiv; Mackenzie, Rob; Maclaren, Robert; Maher, Eamonn; Maimaris, Jesmeen; Mangles, Sarah; Manson, Ania; Mapeta, Rutendo; Markus, Hugh S.; Martin, Jennifer; Masati, Larahmie; Mathias, Mary; Matser, Vera; Maw, Anna; Mcdermott, Elizabeth; Mcjannet, Coleen; Meacham, Stuart; Meehan, Sharon; Megy, Karyn; Mehta, Sarju; Michaelides, Michel; Millar, Carolyn M.; Moledina, Shahin; Moore, Anthony; Morrell, Nicholas; Mumford, Andrew; Murng, Sai; Murphy, Elaine; Nejentsev, Sergey; Noorani, Sadia; Nurden, Paquita; Oksenhendler, Eric; Ouwehand, Willem H.; Papadia, Sofia; Park, Soo Mi; Parker, Alasdair; Pasi, John; Patch, Chris; Paterson, Joan; Payne, Jeanette; Peacock, Andrew; Peerlinck, Kathelijne; Penkett, Christopher J.; Pepke Zaba, Joanna; Perry, David J.; Pollock, Val; Polwarth, Gary; Ponsford, Mark; Qasim, Waseem; Quinti, Isabella; Rankin, Stuart; Rankin, Julia; Raymond, F. Lucy; Rehnstrom, Karola; Reid, Evan; Rhode

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

2017 - AMERICAN JOURNAL OF HUMAN GENETICS

Hamdan, Fadi F.; Myers, Candace T.; Cossette, Patrick; Lemay, Philippe; Spiegelman, Dan; Laporte, Alexandre Dionne; Nassif, Christina; Diallo, Ousmane; Monlong, Jean; Cadieux-Dion, Maxime; Dobrzeniecka, Sylvia; Meloche, Caroline; Retterer, Kyle; Cho, Megan T.; Rosenfeld, Jill A.; Bi, Weimin; Massicotte, Christine; Miguet, Marguerite; Brunga, Ledia; Regan, Brigid M.; Mo, Kelly; Tam, Cory; Schneider, Amy; Hollingsworth, Georgie; FitzPatrick, David R.; Donaldson, Alan; Canham, Natalie; Blair, Edward; Kerr, Bronwyn; Fry, Andrew E.; Thomas, Rhys H.; Shelagh, Joss; Hurst, Jane A.; Brittain, Helen; Blyth, Moira; Lebel, Robert Roger; Gerkes, Erica H.; Davis-Keppen, Laura; Stein, Quinn; Chung, Wendy K.; Dorison, Sara J.; Benke, Paul J.; Fassi, Emily; Corsten-Janssen, Nicole; Kamsteeg, Erik-Jan; Mau-Them, Frederic T.; Bruel, Ange-Line; Verloes, Alain; Ãâ¢unap, Katrin; Wojcik, Monica H.; Albert, Dara V. F; Venkateswaran, Sunita; Ware, Tyson; Jones, Dean; Liu, Yu-Chi; Mohammad, Shekeeb S.; Bizargity, Peyman; Bacino, Carlos A.; Leuzzi, Vincenzo; Martinelli, Simone; Dallapiccola, Bruno; Tartaglia, Marco; Blumkin, Lubov; Wierenga, Klaas J.; Purcarin, Gabriela; O'Byrne, James J.; Stockler, Sylvia; Lehman, Anna; Keren, Boris; Nougues, Marie-Christine; Mignot, Cyril; Auvin, StÃÂ©phane; Nava, Caroline; Hiatt, Susan M.; Bebin, Martina; Shao, Yunru; Scaglia, Fernando; Lalani, Seema R.; Frye, Richard E.; Jarjour, Imad T.; Jacques, StÃÂ©phanie; Boucher, Renee-Myriam; Riou, Emilie; Srour, Myriam; Carmant, Lionel; Lortie, Anne; Major, Philippe; Diadori, Paola; Dubeau, FranÃÂ§ois; D'Anjou, Guy; Bourque, Guillaume; Berkovic, Samuel F.; Sadleir, Lynette G.; Campeau, Philippe M.; Kibar, Zoha; LafreniÃre, Ronald G.; Girard, Simon L.; Mercimek-Mahmutoglu, Saadet; Boelman, Cyrus; Rouleau, Guy A.; Scheffer, Ingrid E.; Mefford, Heather C.; Andrade, Danielle M.; Rossignol, Elsa; Minassian, Berge A.; Michaud, Jacques L.

The Greeks in the West. Genetic signatures of the Hellenic colonisation in southern Italy and Sicily

2016 - EUROPEAN JOURNAL OF HUMAN GENETICS

Tofanelli, Sergio; Brisighelli, Francesca; Anagnostou, Paolo; Busby, George B. J.; Ferri, Gianmarco; Thomas, Mark G.; Taglioli, Luca; Rudan, Igor; Zemunik, Tatijana; Hayward, Caroline; Bolnick, Deborah; Romano, Valentino; Cali, Francesco; Luiselli, Donata; Shepherd, Gillian B.; Tusa, Sebastiano; Facella, Antonino; Capelli, Cristian

Shared language, diverging genetic histories. High-resolution analysis of Y-chromosome variability in Calabrian and Sicilian Arbereshe

2016 - EUROPEAN JOURNAL OF HUMAN GENETICS

Sarno, Stefania; Tofanelli, Sergio; De Fanti, Sara; Quagliariello, Andrea; Bortolini, Eugenio; Ferri, Gianmarco; Anagnostou, Paolo; Brisighelli, Francesca; Capelli, Cristian; Tagarelli, Giuseppe; Sineo, Luca; Luiselli, Donata; Boattini, Alessio; Pettener, Davide

Sirtuin functions and modulation: from chemistry to the clinic

2016 - CLINICAL EPIGENETICS

Carafa, Vincenzo; Rotili, Dante; Forgione, Mariantonietta; Cuomo, Francesca; Serretiello, Enrica; Hailu, GEBREMEDHIN SOLOMON; Jarho, Elina; Lahtela Kakkonen, Maija; Mai, Antonello; Altucci, Lucia

Electronic witness system in IVFâpatients perspective

2016 - JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Forte, Marina; Faustini, Federica; Maggiulli, Roberta; Scarica, Catello; Romano, Stefania; Ottolini, Christian; Farcomeni, Alessio; Palagiano, Antonio; Capalbo, Antonio; Ubaldi, Filippo Maria; Rienzi, Laura

A surge of late-occurring meiotic double-strand breaks rescues synapsis abnormalities in spermatocytes of mice with hypomorphic expression of SPO11

2016 - CHROMOSOMA

Faieta, Monica; Di Cecca, Stefano; DE ROOIJ, DIRK GIJSBERT; Luchetti, Andrea; Murdocca, Michela; DI GIACOMO, Monica; DI SIENA, Sara; Pellegrini, Manuela; Rossi, Pellegrino; Barchi, Marco

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