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 “Marfan-like” 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; Calì, 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; Pérez-Dueñas, 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.

RAP1-GTPase signaling and platelet function

2018 - JOURNAL OF MOLECULAR MEDICINE
Stefanini, Lucia; Bergmeier, Wolfgang

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
D’Andrea, 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; Virzì, 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

Study of the effects of 0.15 terahertz radiation on genome integrity of adult fibroblasts

2018 - ENVIRONMENTAL AND MOLECULAR MUTAGENESIS
Franchini, Valeria; De Sanctis, Stefania; Marinaccio, Jessica; De Amicis, Andrea; Coluzzi, Elisa; Di Cristofaro, Sara; Lista, Florigio; Regalbuto, Elisa; Doria, Andrea; Giovenale, Emilio; Gallerano, Gian Piero; Bei, Roberto; Benvenuto, Monica; Masuelli, Laura; Udroiu, Ion; Sgura, 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

Can untreated PKU patients escape from intellectual disability? A systematic review

2018 - ORPHANET JOURNAL OF RARE DISEASES
Van Vliet, Danique; Van Wegberg, Annemiek M. J.; Ahring, Kirsten; Bik-Multanowski, Miroslaw; Blau, Nenad; Bulut, Fatma D.; Casas, Kari; Didycz, Bozena; Djordjevic, Maja; Federico, Antonio; Feillet, François; Gizewska, Maria; Gramer, Gwendolyn; Hertecant, Jozef L.; Hollak, Carla E. M.; Jørgensen, Jens V.; Karall, Daniela; Landau, Yuval; Leuzzi, Vincenzo; Mathisen, Per; Moseley, Kathryn; Mungan, Neslihan Ö.; Nardecchia, Francesca; Õunap, Katrin; Powell, Kimberly K.; Ramachandran, Radha; Rutsch, Frank; Setoodeh, Aria; Stojiljkovic, Maja; Trefz, Fritz K.; Usurelu, Natalia; Wilson, Callum; Van Karnebeek, Clara D.; Hanley, William B.; Van Spronsen, Francjan J.

Exploring relationships between joint hypermobility and neurodevelopment in children (4–13 years) with hereditary connective tissue disorders and developmental coordination disorder

2018 - AMERICAN JOURNAL OF MEDICAL GENETICS. PART B, NEUROPSYCHIATRIC GENETICS
Piedimonte, Caterina; Penge, Roberta; Morlino, Silvia; Sperduti, Isabella; Terzani, Andrea; Giannini, Maria Teresa; Colombi, Marina; Grammatico, Paola; Cardona, Francesco; Castori, Marco

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

2018 - GENES
Fiscon, Giulia; Conte, Federica; Farina, Lorenzo; Paci, Paola

Mineralization of alpha-1-antitrypsin inclusion bodies in Mmalton alpha-1-antitrypsin deficiency

2018 - ORPHANET JOURNAL OF RARE DISEASES
Callea, F; Giovannoni, I; Francalanci, P; Boldrini, R; Faa, G; Medicina, D; Nobili, V; Desmet, Vj; Ishak, K; Seyama, K; Bellacchio, E.

First case of nonalcoholic steatohepatitis in a child with del(1p36) and dup (Xp22): Review of the literature

2018 - CLINICAL DYSMORPHOLOGY
Nobili, V; Mosca, A; Francalanci, P; D'Ercole, MARIA CRISTINA; Dallapiccola, B.

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

Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency

2017 - ORPHANET JOURNAL OF RARE DISEASES
Wassenberg, Tessa; Molero Luis, Marta; Jeltsch, Kathrin; Hoffmann, Georg F.; Assmann, Birgit; Blau, Nenad; Garcia Cazorla, Angeles; Artuch, Rafael; Pons, Roser; Pearson, Toni S.; Leuzzi, Vincenco; Mastrangelo, Mario; Pearl, Phillip L.; Lee, Wang Tso; Kurian, Manju A.; Heales, Simon; Flint, Lisa; Verbeek, Marcel; Willemsen, Michèl; Opladen, Thomas

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

ATM splicing variants as biomarkers for low dose dexamethasone treatment of A-T

2017 - ORPHANET JOURNAL OF RARE DISEASES
Menotta, Michele; Biagiotti, Sara; Spapperi, Chiara; Orazi, Sara; Rossi, Luigia; Chessa, Luciana; Leuzzi, Vincenzo; D'Agnano, Daniela; Soresina, Annarosa; Micheli, Roberto; Magnani, Mauro

Retinal pigment epithelium–photoreceptor layer alterations in a patient with Sturge–Weber syndrome with diffuse choroidal hemangioma

2017 - OPHTHALMIC GENETICS
Abdolrahimzadeh, Solmaz; Parisi, Francesco; Mantelli, Flavio; Perdicchi, Andrea; Scuderi, Gianluca

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; Gräf, 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

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