VIVIANA CAPUTO

Professore associato


email: viviana.caputo@uniroma1.it




RESEARCH PROFILE Functional studies using in silico and in vitro approaches to investigate the pathogenetic mechanisms of human diseases, with expertise in human and medical genomics. CURRENT POSITION 2019-Present Associate Professor, Department of Experimental Medicine, Sapienza University of Rome Scientific Disciplinary Sector (SSD): MEDS-01/A (MED/03) - Medical Genetics PREVIOUS POSITIONS 2011-2019 Assistant Professor, Sapienza University of Rome 2011 Researcher, Istituto Superiore di Sanità, Rome 2009-2011 Research Fellow, Istituto Superiore di Sanità, Rome 2009 Visiting Scientist, Sapienza University of Rome 2007 Research Fellow, EBRI - European Brain Research Institute, Rome 2005-2006 Research Fellow, IRCCS Casa Sollievo della Sofferenza (Mendel Institute), Rome 2004 Visiting Scientist, San Raffaele Scientific Institute, Milan EDUCATION • PhD in Medical Genetics, Sapienza University of Rome, 2006 • Postgraduate Master (II Level) in Bioinformatics: Biomedical and Pharmaceutical Applications, Sapienza University of Rome, 2007 • Master’s Degree in Biological Sciences, Sapienza University of Rome, 2000 TEACHING AND SUPERVISION • Lecturer in Medical Genetics (Sapienza University of Rome, 2012-Present) • PhD Supervisor - 15 PhD students • Supervisor of 20 Bachelor’s and Master’s students across life sciences and medicine EDITORIAL ACTIVITY • Associate Editor, Frontiers in Genetics (Human and Medical Genomics) • Reviewer for leading peer-reviewed journals, including: American Journal of Medical Genetics, Human Mutation, Scientific Reports, European Journal of Medical Genetics, PLoS ONE, Psychiatry Research, and others ACADEMIC SERVICE 2025–Present PhD Program Coordinator, PhD Program in Human Biology and Medical Genetics, Sapienza University of Rome 2023–Present Teaching Board Member, Postgraduate School in Physical and Rehabilitation Medicine, Sapienza University of Rome 2018–Present Teaching Board Member, Postgraduate School in Medical Genetics, Sapienza University of Rome 2012–Present Board Member, PhD Program in Human Biology and Medical Genetics, Sapienza University of Rome PUBLICATIONS AND METRICS Scopus Author ID: 36902584600

Produzione scientifica

11573/1745559 - 2025 - Craniofacial and dental anomalies of a patient carrying two microRNA variants: a proof‐of‐concept case report
Grenga, Camilla; Guarnieri, Rosanna; Mezio, Martina; De Stefano, Adriana Assunta; Galluccio, Gabriella; Di Giorgio, Roberto; Giovannetti, Agnese; Pizzuti, Antonio; Caputo, Viviana; Barbato, Ersilia - 01i Case report
rivista: CLINICAL CASE REPORTS (Oxford: John Wiley & Sons Inc, 2013-) pp. 1-8 - issn: 2050-0904 - wos: WOS:001460705800001 (0) - scopus: (0)

11573/1744613 - 2025 - Variable Intrafamilial Cardiac Phenotype Segregating With a TBX20 Missense Variant in the Putative Transcriptional Activation Domain
Mastromoro, Gioia; Traversa, Alice; Guadagnolo, Daniele; Putotto, Carolina; Caputo, Viviana; Gnazzo, Maria; Novelli, Antonio; Ventriglia, Flavia; Marino, Bruno; Pizzuti, Antonio - 01a Articolo in rivista
rivista: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A (WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, USA, NJ, 07030) pp. - - issn: 1552-4825 - wos: (0) - scopus: (0)

11573/1754472 - 2025 - Epigenetic Signatures of Dental Stem Cells: Insights into DNA Methylation and Noncoding RNAs
Guarnieri, Rosanna; Giovannetti, Agnese; Marigliani, Giulia; Pieroni, Michele; Mazza, Tommaso; Barbato, Ersilia; Caputo, Viviana - 01a Articolo in rivista
rivista: APPLIED SCIENCES (Basel: MDPI AG, 2011-) pp. 1-16 - issn: 2076-3417 - wos: WOS:001549044800001 (1) - scopus: 2-s2.0-105013106883 (1)

11573/1717737 - 2024 - Dominantly acting variants in vacuolar ATPase subunits impair lysosomal/autophagolysosome function causing a multisystemic disorder with neurocognitive impairment and multiple congenital anomalies
Carpentieri, Giovanna; Cecchetti, Serena; Bocchinfuso, Gianfranco; Radio, Francesca Clementina; Leoni, Chiara; Onesimo, Roberta; Calligari, Paolo; Pietrantoni, Agostina; Ciolfi, Andrea; Ferilli, Marco; Calderan, Cristina; Cappuccio, Gerarda; Martinelli, Simone; Messina, Elena; Caputo, Viviana; Hüffmeier, Ulrike; Mignot, Cyril; Auvin, Stéphane; Capri, Yline; Lourenco, Charles Marques; Russell, Bianca E; Neustad, Ahna; Pierri, Nicola Brunetti; Keren, Boris; Reis, André; Cohen, Julie S; Heidlebaugh, Alexis; Smith, Clay; Thiel, Christian T; Salviati, Leonardo; Zampino, Giuseppe; Campeau, Philippe M; Stella, Lorenzo; Tartaglia, Marco; Flex, Elisabetta - 01a Articolo in rivista
rivista: HGG ADVANCES (New York: Cell Press Elsevier Inc.) pp. 1-17 - issn: 2666-2477 - wos: WOS:001325375900001 (6) - scopus: 2-s2.0-85206220344 (7)

11573/1731634 - 2024 - Phenotypic traits and family history in patients with 22q11.2 deletion syndrome and generalized epilepsy: A multicenter case–control study
Cerulli Irelli, Emanuele; Fanella, Martina; Chaumette, Boris; Putotto, Carolina; Mignot, Cyril; Mazzeo, Adolfo; Lemke, Johannes R.; Riva, Antonella; Accinni, Tommaso; Louveau, Cecile; Giovannetti, Agnese; Pugnaloni, Flaminia; Gavaret, Martine; Di Fabio, Fabio; Fortunato, Francesco; Dorn, Thomas; Ferlazzo, Edoardo; Gambardella, Antonio; Ramantani, Georgia; Orlando, Biagio; Iftimovici, Anton; Operto, Francesca F.; Pulvirenti, Federica; Kluger, Gerhard; Caputo, Viviana; Striano, Pasquale; Di Bonaventura, Carlo - 01a Articolo in rivista
rivista: EPILEPSIA (Hoboken: John Wiley & Sons Copenhagen: E. Munksgaard) pp. 1-11 - issn: 0013-9580 - wos: WOS:001382258400001 (0) - scopus: 2-s2.0-85212825734 (0)

11573/1720254 - 2024 - Unconventional p65/p52 NF-κB module regulates key tumor microenvironment-related genes in breast tumor-associated macrophages (TAMs)
De Paolis, Veronica; Troisi, Virginia; Bordin, Antonella; Pagano, Francesca; Caputo, Viviana; Parisi, Chiara - 01a Articolo in rivista
rivista: LIFE SCIENCES (Elsevier Science Limited:Oxford Fulfillment Center, PO Box 800, Kidlington Oxford OX5 1DX United Kingdom:011 44 1865 843000, 011 44 1865 843699, EMAIL: asianfo@elsevier.com, tcb@elsevier.co.UK, INTERNET: http://www.elsevier.com, http://www.elsevier.com/locate/shpsa/, Fax: 011 44 1865 843010) pp. - - issn: 0024-3205 - wos: WOS:001318915600001 (3) - scopus: 2-s2.0-85204170570 (3)

11573/1720256 - 2024 - Biallelic variants of MRPS36 cause a new form of Leigh syndrome
Galosi, Serena; Mancini, Cecilia; Commone, Anna; Calligari, Paolo; Caputo, Viviana; Nardecchia, Francesca; Carducci, Claudia; Van Den Heuvel, Lambertus P.; Pizzi, Simone; Bruselles, Alessandro; Niceta, Marcello; Martinelli, Simone; Rodenburg, Richard J.; Tartaglia, Marco; Leuzzi, Vincenzo - 01i Case report
rivista: MOVEMENT DISORDERS (-WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, USA, NJ, 07030 -Lippincott, Williams & Wilkins:530 Walnut Street:Philadelphia, PA 19106:(800)638-3030, (301)223-2300, EMAIL: orders@lww.com, INTERNET: http://www.lww.com, Fax: (301)223-2320, (301)223-2320) pp. 1225-1231 - issn: 0885-3185 - wos: WOS:001209566600001 (3) - scopus: 2-s2.0-85192080247 (3)

11573/1707158 - 2024 - Small RNAs and tooth development: the role of microRNAs in tooth agenesis and impaction
Giovannetti, Agnese; Guarnieri, Rosanna; Petrizzelli, Francesco; Lazzari, Sara; Padalino, Gabriella; Traversa, Alice; Napoli, Alessandro; Di Giorgio, Roberto; Pizzuti, Antonio; Parisi, Chiara; Mazza, Tommaso; Barbato, Ersilia; Caputo, Viviana - 01a Articolo in rivista
rivista: JOURNAL OF DENTAL SCIENCES (Taipei : Council on Publication of the Association for Dental Sciences of the Republic of China) pp. 2150-2156 - issn: 1991-7902 - wos: WOS:001315513700001 (6) - scopus: 2-s2.0-85188426688 (5)

11573/1707571 - 2024 - Exploring non-coding genetic variability in ACE2: Functional annotation and in vitro validation of regulatory variants
Giovannetti, Agnese; Lazzari, Sara; Mangoni, Manuel; Traversa, Alice; Mazza, Tommaso; Parisi, Chiara; Caputo, Viviana - 01a Articolo in rivista
rivista: GENE (Amsterdam Netherlands: Elsevier BV) pp. 1-10 - issn: 0378-1119 - wos: WOS:001222857600001 (0) - scopus: 2-s2.0-85189505389 (0)

11573/1720255 - 2024 - SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline
Wood, Katherine A; Tong, R Spencer; Motta, Marialetizia; Cordeddu, Viviana; Scimone, Eleanor R; Bush, Stephen J; Maxwell, Dale W; Giannoulatou, Eleni; Caputo, Viviana; Traversa, Alice; Mancini, Cecilia; Ferrero, Giovanni B; Benedicenti, Francesco; Grammatico, Paola; Melis, Daniela; Steindl, Katharina; Brunetti-Pierri, Nicola; Trevisson, Eva; Wilkie, Andrew Om; Lin, Angela E; Cormier-Daire, Valerie; Twigg, Stephen Rf; Tartaglia, Marco; Goriely, Anne - 01a Articolo in rivista
rivista: AMERICAN JOURNAL OF HUMAN GENETICS (Chicago, Ill. : University of Chicago Press for the American Society of Human Genetics) pp. - - issn: 1537-6605 - wos: WOS:001312382400001 (9) - scopus: 2-s2.0-85202197296 (8)

11573/1687385 - 2023 - APOGEE 2: multi-layer machine-learning model for the interpretable prediction of mitochondrial missense variants
Bianco, S. D.; Parca, L.; Petrizzelli, F.; Biagini, T.; Giovannetti, A.; Liorni, N.; Napoli, A.; Carella, M.; Procaccio, V.; Lott, M. T.; Zhang, S.; Vescovi, A. L.; Wallace, D. C.; Caputo, V.; Mazza, T. - 01a Articolo in rivista
rivista: NATURE COMMUNICATIONS (London: Nature Publishing Group-Springer Nature) pp. 1-13 - issn: 2041-1723 - wos: WOS:001051577000011 (22) - scopus: 2-s2.0-85168340325 (25)

11573/1687384 - 2023 - Investigating Mitochondrial Gene Expression Patterns in Drosophila melanogaster Using Network Analysis to Understand Aging Mechanisms
Mangoni, M.; Petrizzelli, F.; Liorni, N.; Bianco, S. D.; Biagini, T.; Napoli, A.; Adinolfi, M.; Guzzi, P. H.; Novelli, A.; Caputo, V.; Mazza, T. - 01a Articolo in rivista
rivista: APPLIED SCIENCES (Basel: MDPI AG, 2011-) pp. 1-15 - issn: 2076-3417 - wos: WOS:001014093800001 (2) - scopus: 2-s2.0-85163986100 (2)

11573/1671216 - 2023 - Long-term consequences of reduced availability and compensatory supplementation of sialylated HMOs on cognitive capabilities
Pisa, Edoardo; Traversa, Alice; Caputo, Viviana; Ottomana, Angela Maria; Hauser, Jonas; Macrì, Simone - 01a Articolo in rivista
rivista: FRONTIERS IN CELLULAR NEUROSCIENCE (Lausanne (PO Box 110, 1015) : Frontiers Research Foundation, 2007-) pp. 1-14 - issn: 1662-5102 - wos: WOS:000931132100001 (7) - scopus: 2-s2.0-85147921445 (8)

11573/1684176 - 2023 - Cardiac function in adolescents and young adults with 22q11.2 deletion syndrome without congenital heart disease
Putotto, Carolina; Unolt, Marta; Lambiase, Caterina; Marchetti, Flaminia; Anaclerio, Silvia; Favoriti, Alessandra; Tancredi, Giancarlo; Mastromoro, Gioia; Pugnaloni, Flaminia; Liberati, Natascia; De Luca, Enrica; Tarani, Luigi; De Canditiis, Daniela; Caputo, Viviana; Bernardini, Laura; Digilio, Maria Cristina; Marino, Bruno; Versacci, Paolo - 01a Articolo in rivista
rivista: EUROPEAN JOURNAL OF MEDICAL GENETICS (AMSTERDAM, NETHERLANDS,: ELSEVIER SCIENCE BV) pp. 104651- - issn: 1769-7212 - wos: WOS:000899351000013 (1) - scopus: 2-s2.0-85141768764 (2)

11573/1685519 - 2023 - Additional lesions identified by genomic microarrays are associated with an inferior outcome in low-risk chronic lymphocytic leukaemia patients
Rigolin, Gian Matteo; Traversa, Alice; Caputo, Viviana; Del Giudice, Ilaria; Bardi, Antonella; Saccenti, Elena; Raponi, Sara; Ilari, Caterina; Cafforio, Luciana; Giovannetti, Agnese; Pizzuti, Antonio; Guarini, Anna; Foà, Robin; Cuneo, Antonio - 01a Articolo in rivista
rivista: BRITISH JOURNAL OF HAEMATOLOGY (Oxford]: [Blackwell Science].) pp. - - issn: 1365-2141 - wos: WOS:001019742800001 (2) - scopus: 2-s2.0-85163011556 (2)

11573/1686955 - 2023 - Protection against ischemic heart disease. a joint role for eNOS and the KATP channel
Severino, Paolo; D'amato, Andrea; Mancone, Massimo; Palazzuoli, Alberto; Mariani, Marco Valerio; Prosperi, Silvia; Myftari, Vincenzo; Lavalle, Carlo; Forleo, Giovanni Battista; Birtolo, Lucia Ilaria; Caputo, Viviana; Miraldi, Fabio; Chimenti, Cristina; Badagliacca, Roberto; Maestrini, Viviana; Palmirotta, Raffaele; Vizza, Carmine Dario; Fedele, Francesco - 01a Articolo in rivista
rivista: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (Basel: MDPI Center) pp. - - issn: 1422-0067 - wos: WOS:000987315200001 (4) - scopus: 2-s2.0-85159328843 (5)

11573/1651207 - 2022 - KDM6A missense variants hamper H3 histone demethylation in lung squamous cell carcinoma
Biagini, Tommaso; Petrizzelli, Francesco; Bianco, Salvatore Daniele; Liorni, Niccolo'; Napoli, Alessandro; Castellana, Stefano; Luigi Vescovi, Angelo; Carella, Massimo; Caputo, Viviana; Mazza, Tommaso - 01a Articolo in rivista
rivista: COMPUTATIONAL AND STRUCTURAL BIOTECHNOLOGY JOURNAL (Göteborg : Chalmers University of Technology, 2011-) pp. 3151-3160 - issn: 2001-0370 - wos: WOS:000822635400005 (5) - scopus: 2-s2.0-85132758976 (5)

11573/1640953 - 2022 - MiRLog and dbmiR: Prioritization and functional annotation tools to study human microRNA sequence variants
Giovannetti, Agnese; Bianco, Salvatore Daniele; Traversa, Alice; Panzironi, Noemi; Bruselles, Alessandro; Lazzari, Sara; Liorni, Niccolo'; Tartaglia, Marco; Carella, Massimo; Pizzuti, Antonio; Mazza, Tommaso; Caputo, Viviana - 01a Articolo in rivista
rivista: HUMAN MUTATION (John Wiley & Sons Incorporated:Customer Service, 111 River Street:Hoboken, NJ 07030:(800)225-5945, (201)748-6000, EMAIL: societyinfo@wiley.com, INTERNET: http://www.wiley.com, Fax: (212)748-6551) pp. 1201-1215 - issn: 1059-7794 - wos: WOS:000802100300001 (1) - scopus: 2-s2.0-85131158121 (0)

11573/1648078 - 2022 - Potassium Channel {KCNH}1 Activating Variants Cause Altered Functional and Morphological Ciliogenesis
Napoli, Giulia; Panzironi, Noemi; Traversa, Alice; Catalanotto, Caterina; Pace, Valentina; Petrizzelli, Francesco; Giovannetti, Agnese; Lazzari, Sara; Cogoni, Carlo; Tartaglia, Marco; Carella, Massimo; Mazza, Tommaso; Pizzuti, Antonio; Parisi, Chiara; Caputo, Viviana - 01a Articolo in rivista
rivista: MOLECULAR NEUROBIOLOGY (Humana Press Incorporated:999 Riverview Drive, Suite 208:Totowa, NJ 07512:(973)256-1699, EMAIL: lglasner@humanapr.com, INTERNET: http://www.humanapress.com, Fax: (973)256-8341) pp. - - issn: 0893-7648 - wos: WOS:000803858300001 (6) - scopus: 2-s2.0-85131184441 (6)

11573/1664965 - 2022 - Clinical Risk Factors for Aortic Root Dilation in Patients with 22q11.2 Deletion Syndrome: A Longitudinal Single-Center Study
Putotto, Carolina; Pulvirenti, Federica; Pugnaloni, Flaminia; Isufi, Ina; Unolt, Marta; Anaclerio, Silvia; Caputo, Viviana; Bernardini, Laura; Messina, Elisa; Moretti, Corrado; Tarani, Luigi; Marino, Bruno; Versacci, Paolo - 01a Articolo in rivista
rivista: GENES (Basel : Molecular Diversity Preservation International) pp. 2334- - issn: 2073-4425 - wos: WOS:000902748800001 (4) - scopus: 2-s2.0-85144573205 (6)

11573/1488419 - 2021 - MitImpact 3: modeling the residue interaction network of the Respiratory Chain subunits
Castellana, S.; Biagini, T.; Petrizzelli, F.; Parca, L.; Panzironi, N.; Caputo, V.; Vescovi, A. L.; Carella, M.; Mazza, T. - 01a Articolo in rivista
rivista: NUCLEIC ACIDS RESEARCH (Oxford : Oxford University Press) pp. D1282-D1288 - issn: 1362-4962 - wos: WOS:000608437800157 (32) - scopus: 2-s2.0-85099429166 (33)

11573/1493515 - 2021 - GDF5 mutation case report and a systematic review of molecular and clinical spectrum: Expanding current knowledge on genotype-phenotype correlations
Genovesi, M. L.; Guadagnolo, D.; Marchionni, E.; Giovannetti, A.; Traversa, A.; Panzironi, N.; Bernardo, S.; Palumbo, P.; Petrizzelli, F.; Carella, M.; Mazza, T.; Pizzuti, A.; Caputo, V. - 01a Articolo in rivista
rivista: BONE (New York: Pergamon Press, c1985-) pp. - - issn: 8756-3282 - wos: WOS:000615746400001 (9) - scopus: 2-s2.0-85099259643 (10)

11573/1510900 - 2021 - Sialylated human milk oligosaccharides program cognitive development through a non-genomic transmission mode
Hauser, Jonas; Pisa, Edoardo; Arias Vásquez, Alejandro; Tomasi, Flavio; Traversa, Alice; Chiodi, Valentina; Martin, Francois-Pierre; Sprenger, Norbert; Lukjancenko, Oksana; Zollinger, Alix; Metairon, Sylviane; Schneider, Nora; Steiner, Pascal; Martire, Alberto; Caputo, Viviana; Macrì, Simone - 01a Articolo in rivista
rivista: MOLECULAR PSYCHIATRY (Nature Publishing Group:Brunel Road Houndmills, Basingstoke RG21 6XS United Kingdom:011 44 20 78334000, EMAIL: institutions@natureny.com, INTERNET: http://www.nature.com, Fax: 011 44 20 78434640) pp. 2854-2871 - issn: 1359-4184 - wos: WOS:000625343900001 (67) - scopus: 2-s2.0-85106348707 (83)

11573/1622186 - 2021 - Exposure to 3′sialyllactose‐poor milk during lactation impairs cognitive capabilities in adulthood
Pisa, E.; Martire, A.; Chiodi, V.; Traversa, A.; Caputo, V.; Hauser, J.; Macri, S. - 01a Articolo in rivista
rivista: NUTRIENTS (Basel, Switzerland: Molecular Diversity Preservation International (MDPI)) pp. 1-20 - issn: 2072-6643 - wos: WOS:000737083300001 (24) - scopus: 2-s2.0-85119596077 (25)

11573/1421953 - 2021 - Susceptibility to ischaemic heart disease. Focusing on genetic variants for ATP-sensitive potassium channel beyond traditional risk factors
Severino, P.; D'amato, A.; Netti, L.; Pucci, M.; Mariani, M. V.; Cimino, S.; Birtolo, L. I.; Infusino, F.; De Orchi, P.; Palmirotta, R.; Lovero, D.; Silvestris, F.; Caputo, V.; Pizzuti, A.; Miraldi, F.; Maestrini, V.; Mancone, M.; Fedele, F. - 01a Articolo in rivista
rivista: EUROPEAN JOURNAL OF PREVENTIVE CARDIOLOGY (Oxford: Oxford University Press London: SAGE PUBLICATIONS LTD,) pp. 1-7 - issn: 2047-4873 - wos: WOS:000537489200001 (24) - scopus: 2-s2.0-85085877052 (27)

11573/1571574 - 2021 - Potential role of eNOS genetic variants in ischemic heart disease susceptibility and clinical presentation
Severino, Paolo; D'amato, Andrea; Prosperi, Silvia; Magnocavallo, Michele; Mariani, Marco Valerio; Netti, Lucrezia; Birtolo, Lucia Ilaria; De Orchi, Paolo; Chimenti, Cristina; Maestrini, Viviana; Miraldi, Fabio; Lavalle, Carlo; Caputo, Viviana; Palmirotta, Raffaele; Mancone, Massimo; Fedele, Francesco - 01a Articolo in rivista
rivista: JOURNAL OF CARDIOVASCULAR DEVELOPMENT AND DISEASE (Basel : MDPI AG, 2014-) pp. - - issn: 2308-3425 - wos: WOS:000700677100001 (25) - scopus: 2-s2.0-85115747225 (25)

11573/1413018 - 2020 - Genomic and physiological resilience in extreme environments are associated with a secure attachment style
Caputo, Viviana; Pacilli, Maria Giuseppina; Arisi, Ivan; Mazza, Tommaso; Brandi, Rossella; Traversa, Alice; Casasanta, Giampietro; Pisa, Edoardo; Sonnessa, Michele; Healey, Beth; Moggio, Lorenzo; D’Onofrio, Mara; Alleva, Enrico; Macrì, Simone - 01a Articolo in rivista
rivista: TRANSLATIONAL PSYCHIATRY (New York, NY : Nature Pub. Group-Springer Nature) pp. 11- - issn: 2158-3188 - wos: WOS:000542690400004 (7) - scopus: 2-s2.0-85086175054 (9)

11573/1396063 - 2020 - Prenatal expression of d‑aspartate oxidase causes early cerebral d‑aspartate depletion and influences brain morphology and cognitive functions at adulthood
De Rosa, Arianna; Mastrostefano, Francesca; Di Maio, Anna; Nuzzo, Tommaso; Saitoh, Yasuaki; Katane, Masumi; Isidori, Andrea M.; Caputo, Viviana; Marotta, Pina; Falco, Geppino; De Stefano, Maria Egle; Homma, Hiroshi; Usiello, Alessandro; Errico, Francesco - 01a Articolo in rivista
rivista: AMINO ACIDS (Wien: Springer.) pp. - - issn: 1438-2199 - wos: WOS:000520693600001 (20) - scopus: 2-s2.0-85081909051 (21)

11573/1423392 - 2020 - New insights on the influence of free d-aspartate metabolism in the mammalian brain during prenatal and postnatal life
Errico, F.; Cuomo, M.; Canu, N.; Caputo, V.; Usiello, A. - 01g Articolo di rassegna (Review)
rivista: BIOCHIMICA ET BIOPHYSICA ACTA-PROTEINS AND PROTEOMICS (Tokyo ; Oxford ; New York ; London ; Amsterdam ; Shannon ; Paris : Elsevier) pp. - - issn: 1570-9639 - wos: WOS:000552060100005 (27) - scopus: 2-s2.0-85087940820 (27)

11573/1370708 - 2020 - Co-occurring WARS2 and CHRNA6 mutations in a child with a severe form of infantile parkinsonism
Martinelli, Simone; Cordeddu, Viviana; Galosi, Serena; Lanzo, Ambra; Palma, Eleonora; Pannone, Luca; Ciolfi, Andrea; Di Nottia, Michela; Rizza, Teresa; Bocchinfuso, Gianfranco; Traversa, Alice; Caputo, Viviana; Farrotti, Andrea; Carducci, Claudia; Bernardini, Laura; Cogo, Susanna; Paglione, Maria; Venditti, Martina; Bentivoglio, Annarita; Ng, Joanne; Kurian, Manju A; Civiero, Laura; Greggio, Elisa; Stella, Lorenzo; Trettel, Flavia; Sciaccaluga, Miriam; Roseti, Cristina; Carrozzo, Rosalba; Fucile, Sergio; Limatola, Cristina; Di Schiavi, Elia; Tartaglia, Marco; Leuzzi, Vincenzo - 01a Articolo in rivista
rivista: PARKINSONISM & RELATED DISORDERS ([S.l.] : Elsevier Science) pp. 75-79 - issn: 1873-5126 - wos: WOS:000527333100013 (13) - scopus: 2-s2.0-85080039205 (17)

11573/1465158 - 2020 - Mechanisms of pathogenesis of missense mutations on the KDM6A-H3 interaction in type 2 Kabuki Syndrome
Petrizzelli, F.; Biagini, T.; Barbieri, A.; Parca, L.; Panzironi, N.; Castellana, S.; Caputo, V.; Vescovi, A. L.; Carella, M.; Mazza, T. - 01a Articolo in rivista
rivista: COMPUTATIONAL AND STRUCTURAL BIOTECHNOLOGY JOURNAL (Göteborg : Chalmers University of Technology, 2011-) pp. 2033-2042 - issn: 2001-0370 - wos: WOS:000607348200003 (9) - scopus: 2-s2.0-85089078634 (10)

11573/1410285 - 2020 - Absence of 6’Sialyllactose during lactation impairs cognitive capabilities and modulates gene expression
Pisa, Edoardo; Traversa, Alice; Caputo, Viviana; Martire, Alberto; Chiodi, Valentina; Hauser, Jonas; Macrì, Simone - 04f Poster
congresso: Federation of European Neuroscience Societies 2020 virtual forum (Virtual Forum)
libro: FENS 2020 virtual forum abstract book - ()

11573/1413909 - 2020 - Heterozygous nonsense ARX mutation in a family highlights the complexity of clinical and molecular diagnosis in case of chromosomal and single gene disorder co-inheritance
Traversa, Alice; Marchionni, Enrica; Giovannetti, Agnese; Genovesi, Maria L; Panzironi, Noemi; Margiotti, Katia; Napoli, Giulia; Piceci Sparascio, Francesca; De Luca, Alessandro; Petrizzelli, Francesco; Carella, Massimo; Cardona, Francesco; Bernardo, Silvia; Manganaro, Lucia; Mazza, Tommaso; Pizzuti, Antonio; Caputo, Viviana - 01a Articolo in rivista
rivista: MOLECULAR GENETICS & GENOMIC MEDICINE ([Hoboken, NJ] : John Wiley & Sons, [2013]-) pp. e1336- - issn: 2324-9269 - wos: WOS:000539082200001 (3) - scopus: 2-s2.0-85086178317 (4)

11573/1349168 - 2019 - Reduced availability of a selective human milk oligosaccharide during lactation impairs post-weaning executive functions
Pisa, Edoardo; Tomasi, Flavio; Traversa, Alice; Caputo, Viviana; Hauser, Jonas; Macrì, Simone - 04f Poster
congresso: SINS national meeting of PhD students in neuroscience 2019 (“Federico II” University of Naples, Italy)
libro: SINS abstract book - ()

11573/1349181 - 2019 - Increased availability of the human milk oligosaccharide sialyl(alpha2,3)lactose during lactation promotes the development of executive functions
Pisa, Edoardo; Tomasi, Flavio; Traversa, Alice; Caputo, Viviana; Macrì, Simone; Hauser, Jonas - 04d Abstract in atti di convegno
congresso: 48th meeting of the european brain and behaviour society (Prague; Czech Republic)
libro: 48th meeting of EBBS abstract book - ()

11573/1349570 - 2019 - Prenatal whole exome sequencing detects a new homozygous fukutin (FKTN) mutation in a fetus with an ultrasound suspicion of familial Dandy-Walker malformation.
Traversa, A; Bernardo, S; Paiardini, A; Giovannetti, A; Marchionni, E; Genovesi, Ml; Guadagnolo, D; Torres, B; Paolacci, S; Bernardini, L; Mazza, T; Carella, M; Caputo, V; Pizzuti, A - 01a Articolo in rivista
rivista: MOLECULAR GENETICS & GENOMIC MEDICINE ([Hoboken, NJ] : John Wiley & Sons, [2013]-) pp. - - issn: 2324-9269 - wos: WOS:000497878100001 (5) - scopus: 2-s2.0-85075459805 (7)

11573/1108825 - 2018 - Whole exome sequencing in an Italian family with isolated maxillary canine agenesis and canine eruption anomalies
Barbato, Ersilia; Traversa, Alice; Guarnieri, Rosanna; Giovannetti, Agnese; Genovesi, Maria Luce; Magliozzi, Maria Rosa; Paolacci, Stefano; Ciolfi, Andrea; Pizzi, Simone; Di Giorgio, Roberto; Tartaglia, Marco; Pizzuti, Antonio; Caputo, Viviana - 01a Articolo in rivista
rivista: ARCHIVES OF ORAL BIOLOGY (Elsevier Science Limited:Oxford Fulfillment Center, PO Box 800, Kidlington Oxford OX5 1DX United Kingdom:011 44 1865 843000, 011 44 1865 843699, EMAIL: asianfo@elsevier.com, tcb@elsevier.co.UK, INTERNET: http://www.elsevier.com, http://www.elsevier.com/locate/shpsa/, Fax: 011 44 1865 843010) pp. 96-102 - issn: 0003-9969 - wos: WOS:000432768400012 (12) - scopus: 2-s2.0-85046169366 (12)

11573/1179916 - 2018 - Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome
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 - 01a Articolo in rivista
rivista: AMERICAN JOURNAL OF HUMAN GENETICS (University of Chicago Press:PO Box 37005, Journals Division:Chicago, IL 60637:(877)705-1878, (877)705-1878, (773)753-2247, EMAIL: subscriptions@press.uchicago.edu, INTERNET: http://www.press.uchicago.edu, Fax: (877)705-1879, (773)753-0811) pp. 621-630 - issn: 0002-9297 - wos: WOS:000446312200014 (78) - scopus: 2-s2.0-85053867478 (81)

11573/1179906 - 2018 - Biallelic SQSTM1 mutations in early-onset, variably progressive neurodegeneration
Muto, Valentina; Flex, Elisabetta; Kupchinsky, Zachary; Primiano, Guido; Galehdari, Hamid; Dehghani, Mohammadreza; Cecchetti, Serena; Carpentieri, Giovanna; Rizza, Teresa; Mazaheri, Neda; Sedaghat, Alireza; Vahidi Mehrjardi, Mohammad Yahya; Traversa, Alice; Di Nottia, Michela; Kousi, Maria M; Jamshidi, Yalda; Ciolfi, Andrea; Caputo, Viviana; Malamiri, Reza Azizi; Pantaleoni, Francesca; Martinelli, Simone; Jeffries, Aaron R; Zeighami, Jawaher; Sherafat, Amir; Di Giuda, Daniela; Shariati, Gholam Reza; Carrozzo, Rosalba; Katsanis, Nicholas; Maroofian, Reza; Servidei, Serenella; Tartaglia, Marco - 01a Articolo in rivista
rivista: NEUROLOGY (Wolters Kluwer Hagerstown MD: Lippincott Williams & Wilkins Cleveland Ohio: Advanstar Communications) pp. e319-e330 - issn: 0028-3878 - wos: WOS:000440909200003 (44) - scopus: 2-s2.0-85059641426 (45)

11573/963877 - 2017 - Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes
Giorgio, Elisa; Brussino, Alessandro; Biamino, Elisa; Belligni, Elga Fabia; Bruselles, Alessandro; Ciolfi, Andrea; Caputo, Viviana; Pizzi, Simone; Calcia, Alessandro; Di Gregorio, Eleonora; Cavalieri, Simona; Mancini, Cecilia; Pozzi, Elisa; Ferrero, Marta; Riberi, Evelise; Borelli, Iolanda; Amoroso, Antonio; Ferrero, Giovanni Battista; Tartaglia, Marco; Brusco, Alfredo - 01a Articolo in rivista
rivista: EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY (Harcourt Publishers Limited:Foots Cray High Street, Sidcup Kent DA14 5HP United Kingdom:011 44 20 83085700, EMAIL: journals@harcourt.com, INTERNET: http://www.harcourt-international.com, Fax: 011 44 20 83085876) pp. 475-484 - issn: 1090-3798 - wos: WOS:000401209200009 (10) - scopus: 2-s2.0-85008239864 (10)

11573/931868 - 2016 - Prediction and visualization data for the interpretation of sarcomeric and non-sarcomeric DNA variants found in patients with hypertrophic cardiomyopathy
Bottillo, Irene; D'angelantonio, Daniela; Caputo, Viviana; Paiardini, Alessandro; Lipari, Martina; De Bernardo, Carmelilia; Majore, Silvia; Castori, Marco; Zachara, Elisabetta; Re, Federica; Grammatico, Paola - 01a Articolo in rivista
rivista: DATA IN BRIEF (New York : Elsevier Inc.) pp. 607-613 - issn: 2352-3409 - wos: WOS:000453166200095 (0) - scopus: 2-s2.0-84962574347 (0)

11573/927402 - 2016 - Recessive inactivating mutations in TBCK, a Rab GTPase-activating protein that modulates mTOR signaling, cause severe infantile syndromic encephalopathy
Caputo, Viviana; Chong, Jx; Phelps, Ig; Stella, L; Worgan, L; Dempsey, Jc; Nguyen, A; Paolacci, Stefano; Leuzzi, V; Webster, R; Pizzuti, Antonio; Marvin, Ct; Ishak, Ge; Ardern Holmes, S; Richmond, Z; University Of Washington Center For Mendelian, Genomics; Bamshad, Mj; Ortiz Gonzalez, Xr; Tartaglia, M; Chopra, M; Doherty, D. - 04f Poster

11573/954875 - 2016 - Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy
Chong, Jessica X.; Caputo, Viviana; Phelps, Ian G.; Stella, Lorenzo; Worgan, Lisa; Dempsey, Jennifer C.; Nguyen, Alina; Leuzzi, Vincenzo; Webster, Richard; Pizzuti, Antonio; Marvin, Colby T.; Ishak, Gisele E.; Ardern Holmes, Simone; Richmond, Zara; Bamshad, Michael J.; Ortiz Gonzalez, Xilma R.; Tartaglia, Marco; Chopra, Maya; Doherty, Dan - 01a Articolo in rivista
rivista: AMERICAN JOURNAL OF HUMAN GENETICS (University of Chicago Press:PO Box 37005, Journals Division:Chicago, IL 60637:(877)705-1878, (877)705-1878, (773)753-2247, EMAIL: subscriptions@press.uchicago.edu, INTERNET: http://www.press.uchicago.edu, Fax: (877)705-1879, (773)753-0811) pp. 772-781 - issn: 0002-9297 - wos: WOS:000374203800015 (36) - scopus: 2-s2.0-84962045269 (39)

11573/963882 - 2016 - Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples
Giorgio, Elisa; Ciolfi, Andrea; Biamino, Elisa; Caputo, Viviana; Di Gregorio, Eleonora; Belligni, Elga Fabia; Calcia, Alessandro; Gaidolfi, Elena; Bruselles, Alessandro; Mancini, Cecilia; Cavalieri, Simona; Molinatto, Cristina; Cirillo Silengo, Margherita; Ferrero, Giovanni Battista; Tartaglia, Marco; Brusco, Alfredo - 01a Articolo in rivista
rivista: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A (WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, USA, NJ, 07030) pp. 1772-1779 - issn: 1552-4825 - wos: WOS:000379948000008 (22) - scopus: 2-s2.0-84975106848 (22)

11573/963883 - 2016 - TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy
Sferra, Antonella; Baillat, Gilbert; Rizza, Teresa; Barresi, Sabina; Flex, Elisabetta; Tasca, Giorgio; D'amico, Adele; Bellacchio, Emanuele; Ciolfi, Andrea; Caputo, Viviana; Cecchetti, Serena; Torella, Annalaura; Zanni, Ginevra; Diodato, Daria; Piermarini, Emanuela; Niceta, Marcello; Coppola, Antonietta; Tedeschi, Enrico; Martinelli, Diego; Dionisi Vici, Carlo; Nigro, Vincenzo; Dallapiccola, Bruno; Compagnucci, Claudia; Tartaglia, Marco; Haase, Georg; Bertini, Enrico - 01a Articolo in rivista
rivista: AMERICAN JOURNAL OF HUMAN GENETICS (University of Chicago Press:PO Box 37005, Journals Division:Chicago, IL 60637:(877)705-1878, (877)705-1878, (773)753-2247, EMAIL: subscriptions@press.uchicago.edu, INTERNET: http://www.press.uchicago.edu, Fax: (877)705-1879, (773)753-0811) pp. 974-983 - issn: 0002-9297 - wos: WOS:000385333700018 (46) - scopus: 2-s2.0-84991691574 (49)

11573/845848 - 2015 - Molecular analysis of sarcomeric and non-sarcomeric genes in patients with hypertrophic cardiomyopathy.
Bottillo, Irene; D'angelantonio, Daniela; Caputo, Viviana; Paiardini, Alessandro; Lipari, Martina; De Bernardo, C; Giannarelli, D; Pizzuti, Antonio; Majore, S; Castori, M; Zachara, E; Re, F; Grammatico, Paola - 01a Articolo in rivista
rivista: GENE (Amsterdam Netherlands: Elsevier BV) pp. 227-235 - issn: 0378-1119 - wos: WOS:000369191500017 (32) - scopus: 2-s2.0-84952864713 (35)

11573/958197 - 2015 - The emerging role of MicroRNA in schizophrenia
Caputo, Viviana; Ciolfi, Andrea; Macri, Simone; Pizzuti, Antonio - 01a Articolo in rivista
rivista: CNS & NEUROLOGICAL DISORDERS. DRUG TARGETS (Sharjah : Bentham Science Publishers) pp. 208-221 - issn: 1996-3181 - wos: WOS:000352219800008 (28) - scopus: 2-s2.0-84930853953 (32)

11573/783132 - 2015 - Mutations impairing GSK3-mediated MAF phosphorylation cause cataract, deafness, intellectual disability, seizures, and a down syndrome-like facies
E. Stellacci, M. Niceta; Gripp, K. W.; Zampino, G.; Kousi, M.; Manselmi, M. Anselmi; Traversa, A.; Ciolfi, A.; Stabley, D.; Bruselles, A.; Caputo, V.; Scecchetti, S. Cecchetti; Prudente, S.; Fiorenza, M. T.; Boitani, C.; Philip, N.; Dniyazov, D. Niyazov; Leoni, C.; Nakane, T.; Keppler-Noreuil, K.; Braddock, S. R.; Gillessen-Kaesbach, G.; Palleschi, A.; Campeau, P. M.; Lee, B. H. L.; Pouponnot, C.; Stella, L.; Gbocchinfuso, G. Bocchinfuso; Nkatsanis, N. Katsanis; Ksol-Church, K. Sol-Church - 01i Case report
rivista: AMERICAN JOURNAL OF HUMAN GENETICS (University of Chicago Press:PO Box 37005, Journals Division:Chicago, IL 60637:(877)705-1878, (877)705-1878, (773)753-2247, EMAIL: subscriptions@press.uchicago.edu, INTERNET: http://www.press.uchicago.edu, Fax: (877)705-1879, (773)753-0811) pp. 816-825 - issn: 0002-9297 - wos: WOS:000354189300012 (95) - scopus: 2-s2.0-84929289243 (99)

11573/813088 - 2015 - Protracted late infantile ceroid lipofuscinosis due to TPP1 mutations. clinical, molecular and biochemical characterization in three sibs
Giacopo, Raffaella Di; Cianetti, Luciano; Caputo, Viviana; Torraca, Ilaria La; Piemonte, Fiorella; Ciolfi, Andrea; Petrucci, Simona; Carta, Claudio; Mariotti, Paolo; Leuzzi, Vincenzo; Valente, Enza Maria; J, ; D'amico, Adele; Bentivoglio, Annarita; Bertini, Enrico; Tartaglia, Marco; Zampino, Giuseppe - 01a Articolo in rivista
rivista: JOURNAL OF THE NEUROLOGICAL SCIENCES (Elsevier BV:PO Box 211, 1000 AE Amsterdam Netherlands:011 31 20 4853757, 011 31 20 4853642, 011 31 20 4853641, EMAIL: nlinfo-f@elsevier.nl, INTERNET: http://www.elsevier.nl, Fax: 011 31 20 4853598) pp. 65-71 - issn: 0022-510X - wos: WOS:000360950800012 (27) - scopus: 2-s2.0-84939261656 (26)

11573/927392 - 2015 - Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome
Kortüm, F; Caputo, Viviana; Bauer, Ck; Stella, L; Ciolfi, Andrea; Alawi, M; Bocchinfuso, G; Flex, Elisabetta; Dentici, Maria Lisa; Grammatico, Paola; Korenke, Gc; Leuzzi, Vincenzo; Mowat, D; Nair, Ld; Nguyen, Thi Thu Van; Thierry, P; White, Sm; Dallapiccola, B; Pizzuti, Antonio; Campeau, Pm; Tartaglia, M; Kutsche, K.; Paolacci, Stefano - 01a Articolo in rivista
rivista: NATURE GENETICS () pp. 661-667 - issn: 1546-1718 - wos: WOS:000355386500019 (175) - scopus: 2-s2.0-84930092141 (181)

11573/927398 - 2015 - Novel POLR3A mutations causing hypomyelinating leukodystrophy
Paolacci, Stefano; Caputo, Viviana; V, .; Bruselles, ; A, .; Ciolfi, Andrea; A, .; Giovannetti, Agnese; A, .; Bertini, ; E, .; Pizzuti, Antonio; A, .; Leuzzi, Vincenzo; V, .; Tartaglia, - 04f Poster

11573/556156 - 2014 - Novel SMAD4 mutation causing Myhre syndrome
Caputo, Viviana; Gianfranco, Bocchinfuso; Marco, Castori; Traversa, Alice; Pizzuti, Antonio; Lorenzo, Stella; Grammatico, Paola; Marco, Tartaglia - 01a Articolo in rivista
rivista: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A (WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, USA, NJ, 07030) pp. 1835-1840 - issn: 1552-4833 - wos: WOS:000337633300035 (36) - scopus: 2-s2.0-84902540055 (35)

11573/557918 - 2014 - Mutations in PAX2 Associate with Adult-Onset FSGS.
M., Barua; E., Stellacci; L., Stella; A., Weins; G., Genovese; V., Muto; Caputo, Viviana; H. R., Toka; V. T., Charoonratana; M., Tartaglia; M. R., Pollak - 01a Articolo in rivista
rivista: JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (Lippincott, Williams & Wilkins:530 Walnut Street:Philadelphia, PA 19106:(800)638-3030, (301)223-2300, EMAIL: orders@lww.com, INTERNET: http://www.lww.com, Fax: (301)223-2320, (301)223-2320) pp. 1942-1953 - issn: 1046-6673 - wos: WOS:000341059200011 (94) - scopus: 2-s2.0-84921665535 (112)

11573/516432 - 2013 - Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome
E., Flex; Ciolfi, Andrea; Caputo, Viviana; V., Fodale; C., Leoni; D., Melis; M. F., Bedeschi; L., Mazzanti; Pizzuti, Antonio; M., Tartaglia; G., Zampino - 01a Articolo in rivista
rivista: JOURNAL OF MEDICAL GENETICS (BMJ / British Medical Journal Publishing Group:PO Box 299, London WC1H 9TD United Kingdom:011 44 20 73836270, EMAIL: subscriptions@bmjgroup.com, INTERNET: http://www.bmjpg.com/bmj, Fax: 011 44 20 73836402) pp. 493-499 - issn: 0022-2593 - wos: WOS:000322123200001 (39) - scopus: 2-s2.0-84883199248 (43)

11573/433091 - 2012 - A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies myhre syndrome
Caputo, Viviana; Luciano, Cianetti; Marcello, Niceta; Claudio, Carta; Ciolfi, Andrea; Gianfranco, Bocchinfuso; Eugenio, Carrani; Maria Lisa, Dentici; Elisa, Biamino; Elga, Belligni; Livia, Garavelli; Loredana, Boccone; Daniela, Melis; Generoso, Andria; Bruce D, Gelb; Lorenzo, Stella; Margherita, Silengo; Bruno, Dallapiccola; Marco, Tartaglia - 01a Articolo in rivista
rivista: AMERICAN JOURNAL OF HUMAN GENETICS (University of Chicago Press:PO Box 37005, Journals Division:Chicago, IL 60637:(877)705-1878, (877)705-1878, (773)753-2247, EMAIL: subscriptions@press.uchicago.edu, INTERNET: http://www.press.uchicago.edu, Fax: (877)705-1879, (773)753-0811) pp. 161-169 - issn: 0002-9297 - wos: WOS:000299409100017 (86) - scopus: 2-s2.0-84855858089 (82)

11573/433092 - 2011 - Brain Derived Neurotrophic Factor (BDNF) Expression Is Regulated by MicroRNAs miR-26a and miR-26b Allele-Specific Binding
Caputo, Viviana; Lorenzo, Sinibaldi; Alessia, Fiorentino; Chiara, Parisi; Catalanotto, Caterina; Augusto, Pasini; Cogoni, Carlo; Pizzuti, Antonio - 01a Articolo in rivista
rivista: PLOS ONE (San Francisco, CA : Public Library of Science) pp. e28656- - issn: 1932-6203 - wos: WOS:000298369100071 (106) - scopus: 2-s2.0-83355168037 (110)

11573/427944 - 2011 - Ago1 and Ago2 differentially affect cell proliferation, motility and apoptosis when overexpressed in SH-SY5Y neuroblastoma cells
Chiara, Parisi; Corinna, Giorgi; Enrico Maria, Batassa; Laura, Braccini; Giovanna, Maresca; Igea, D'agnano; Caputo, Viviana; A., Salvatore; Flavia, Pietrolati; Cogoni, Carlo; Catalanotto, Caterina - 01a Articolo in rivista
rivista: FEBS LETTERS (Elsevier BV:PO Box 211, 1000 AE Amsterdam Netherlands:011 31 20 4853757, 011 31 20 4853642, 011 31 20 4853641, EMAIL: nlinfo-f@elsevier.nl, INTERNET: http://www.elsevier.nl, Fax: 011 31 20 4853598) pp. 2965-2971 - issn: 0014-5793 - wos: WOS:000295473600006 (31) - scopus: 2-s2.0-80053281360 (33)

11573/426313 - 2011 - SOS1 Mutations in Noonan Syndrome: Molecular Spectrum, Structural Insights on Pathogenic Effects, and Genotype-Phenotype Correlations
Francesca, Lepri; Alessandro De, Luca; Lorenzo, Stella; Cesare, Rossi; Giuseppina, Baldassarre; Francesca, Pantaleoni; Viviana, Cordeddu; Bradley J., Williams; Maria L., Dentici; Caputo, Viviana; Serenella, Venanzi; Michela, Bonaguro; Ines, Kavamura; Maria F., Faienza; Alba, Pilotta; Franco, Stanzial; Francesca, Faravelli; Orazio, Gabrielli; Marino Taussig De Bodonia, Bruno; Giovanni, Neri; Margherita Cirillo, Silengo; Giovanni B., Ferrero; Isabella, Torrrente; Angelo, Selicorni; Laura, Mazzanti; Maria C., Digilio; Giuseppe, Zampino; Dalla Piccola, Bruno; Bruce D., Gelb; Marco, Tartaglia - 01a Articolo in rivista
rivista: HUMAN MUTATION (John Wiley & Sons Incorporated:Customer Service, 111 River Street:Hoboken, NJ 07030:(800)225-5945, (201)748-6000, EMAIL: societyinfo@wiley.com, INTERNET: http://www.wiley.com, Fax: (212)748-6551) pp. 760-772 - issn: 1059-7794 - wos: WOS:000292551800009 (104) - scopus: 2-s2.0-79959745810 (114)

11573/390881 - 2010 - Heterozygous Germline Mutations in the CBL Tumor-Suppressor Gene Cause a Noonan Syndrome-like Phenotype
Simone, Martinelli; Alessandro De, Luca; Emilia, Stellacci; Cesare, Rossi; Checquolo, Saula; Francesca, Lepri; Caputo, Viviana; Marianna, Silvano; Francesco, Buscherini; Consoli, Federica; Ferrara, Grazia; Maria C., Digilio; Cavaliere, Maria Laura; Johanna M., Van Hagen; Giuseppe, Zampino; Ineke Van Der, Burgt; Giovanni B., Ferrero; Laura, Mazzanti; Screpanti, Isabella; Helger G., Yntema; Willy M., Nillesen; Ravi, Savarirayan; Martin, Zenker; Bruno, Dallapiccola; Bruce D., Gelb; Marco, Tartaglia - 01a Articolo in rivista
rivista: AMERICAN JOURNAL OF HUMAN GENETICS (University of Chicago Press:PO Box 37005, Journals Division:Chicago, IL 60637:(877)705-1878, (877)705-1878, (773)753-2247, EMAIL: subscriptions@press.uchicago.edu, INTERNET: http://www.press.uchicago.edu, Fax: (877)705-1879, (773)753-0811) pp. 250-257 - issn: 0002-9297 - wos: WOS:000281107000009 (203) - scopus: 2-s2.0-77955583599 (225)

11573/115572 - 2009 - Quantification of small non-coding RNAs allows an accurate comparison of miRNA expression profiles.
Masotti, A; Caputo, Viviana; Da Sacco, L; Pizzuti, Antonio; Dallapiccola, B; Bottazzo, Gf - 01a Articolo in rivista
rivista: JOURNAL OF BIOMEDICINE AND BIOTECHNOLOGY (NEW YORK:HINDAWI PUBLISHING CORPORATION Cairo : Dār al-Našr al-Iliktrūnī) pp. 2009:659028-2009:659028 - issn: 1110-7243 - wos: WOS:000270575300001 (20) - scopus: 2-s2.0-70349257339 (26)

11573/145265 - 2008 - Insights into the interaction of sortilin with proneurotrophins: A computational approach
Paiardini, Alessandro; Caputo, Viviana - 01a Articolo in rivista
rivista: NEUROPEPTIDES (Harcourt Publishers Limited:Foots Cray High Street, Sidcup Kent DA14 5HP United Kingdom:011 44 20 83085700, EMAIL: journals@harcourt.com, INTERNET: http://www.harcourt-international.com, Fax: 011 44 20 83085876) pp. 205-214 - issn: 0143-4179 - wos: WOS:000254779400009 (17) - scopus: 2-s2.0-39849110118 (20)

11573/104039 - 2007 - ROCK2 and its alternatively spliced isoform ROCK2m positively control the maturation of the myogenic program
Pelosi, M.; Marampon, F.; Perlas, E.; Caputo, Viviana; Cianetti, L.; Berno, V.; Narumiya, S.; Kang, S. W.; Musaro', Antonio; Rosenthal, N.; Zani, Bianca M.; Prudente, Sabrina - 01a Articolo in rivista
rivista: MOLECULAR AND CELLULAR BIOLOGY (American Society for Microbiology / DC:1752 N Street Northwest:Washington, DC 20036:(202)737-3600, EMAIL: jadelman@asmusa.org, INTERNET: http://www.asmusa.org/asm.htm, Fax: (202)942-9342) pp. 6163-6176 - issn: 0270-7306 - wos: WOS:000248979100019 (45) - scopus: 2-s2.0-34548275925 (48)

11573/433094 - 2005 - Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism
L., Silvestri; Caputo, Viviana; E., Bellacchio; L., Atorino; E. M., Valente; G., Casari; Dalla Piccola, Bruno - 01a Articolo in rivista
rivista: HUMAN MOLECULAR GENETICS (Oxford University Press:Journals Department, Great Clarendon Street, Oxford OX2 6DP United Kingdom:011 44 1865 556767, EMAIL: jnlorders@oup.co.uk, INTERNET: http://www.oup.co.uk, Fax: 011 44 1865 267485) pp. 3477-3492 - issn: 0964-6906 - wos: WOS:000233216600014 (378) - scopus: 2-s2.0-27944444154 (407)

11573/433095 - 2005 - A novel locus for autosomal dominant cone and cone-rod dystrophies maps to the 6p gene cluster of retinal dystrophies
M., Castori; E. M., Valente; M., Clementi; A. P., Tormene; F., Brancati; Caputo, Viviana; B., Dallapiccola - 01a Articolo in rivista
rivista: INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (Association for Research in Vision and Ophthalmology (ARVO):12300 Twinbrook Parkway, Suite 250:Rockville, MD 20852:(240)221-2900, EMAIL: arvo@arvo.org, INTERNET: http://www.arvo.org, Fax: (240)221-0370) pp. 3539-3544 - issn: 0146-0404 - wos: WOS:000232112900012 (2) - scopus: 2-s2.0-32944477335 (2)

11573/433098 - 2004 - Hereditary early-onset Parkinson's disease caused by mutations in PINK1
E. M., Valente; P. M., Abou Sleiman; Caputo, Viviana; M. M. K., Muqit; K., Harvey; S., Gispert; Z., Ali; D., Del Turco; A. R., Bentivoglio; D. G., Healy; A., Albanese; R., Nussbaum; R., Gonzalez Maldonado; T., Deller; S., Salvi; P., Cortelli; W. P., Gilks; D. S., Latchman; R. J., Harvey; B., Dallapiccola; G., Auburger; N. W., Wood - 01a Articolo in rivista
rivista: SCIENCE (New York : American Association for the Advancement of Science) pp. 1158-1160 - issn: 0036-8075 - wos: WOS:000221524500043 (2815) - scopus: 2-s2.0-2442668926 (3106)

11573/433096 - 2004 - PINK1 mutations are associated with sporadic early-onset parkinsonism
Enza Maria, Valente; Sergio, Salvi; Tamara, Ialongo; Roberta, Marongiu; Antonio Emanuele, Elia; Caputo, Viviana; Luigi, Romito; Alberto, Albanese; Bruno, Dallapiccola; Anna Rita, Bentivoglio - 01a Articolo in rivista
rivista: ANNALS OF NEUROLOGY (-attuale: WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, USA, NJ, 07030 -Lippincott, Williams & Wilkins:530 Walnut Street:Philadelphia, PA 19106:(800)638-3030, (301)223-2300, EMAIL: orders@lww.com, INTERNET: http://www.lww.com, Fax: (301)223-2320, (301)223-2320) pp. 336-341 - issn: 0364-5134 - wos: WOS:000223687400005 (397) - scopus: 2-s2.0-4444274910 (455)

11573/433097 - 2004 - High frequency of subtelomeric rearrangements in a cohort of 92 patients with severe mental retardation and dysmorphism.
Novelli, A; Ceccarini, C; Bernardini, L; Zuccarello, D; Caputo, Viviana; Digilio, Mc; Mingarelli, R; Dallapiccola, B. - 01a Articolo in rivista
rivista: CLINICAL GENETICS (Blackwell Munksgaard:PO Box 2148, Periodicals Department, DK-1016 Copenhagen K Denmark:011 45 33 755913, EMAIL: agentservices@oxon.blackwellpublishing.com, INTERNET: http://www.blackwellmunksgaard.com, Fax: 011 45 77 333377) pp. 30-38 - issn: 0009-9163 - wos: WOS:000222097200006 (13) - scopus: 2-s2.0-3242736790 (18)

11573/433099 - 2004 - Autosomal dominant Brody disease cosegregates with a chromosomal (2;7)(p11.2;p12.1) translocation in an Italian family.
Novelli, A; Valente, Em; Bernardini, L; Ceccarini, C; Sinibaldi, L; Caputo, Viviana; Cavalli, P; Dallapiccola, B. - 01a Articolo in rivista
rivista: EUROPEAN JOURNAL OF HUMAN GENETICS (-NATURE PUBLISHING GROUP, MACMILLAN BUILDING, 4 CRINAN ST, LONDON, ENGLAND, N1 9XW -S Karger AG:Allschwilerstrasse 10, CH-4009 Basel Switzerland:011 41 61 3061111, EMAIL: orders@karger.ch, INTERNET: http://www.karger.com, Fax: 011 41 61 3061234) pp. 579-583 - issn: 1018-4813 - wos: WOS:000222274600010 (11) - scopus: 2-s2.0-4043093416 (17)

11573/362284 - 2003 - Familial blepharospasm is inherited as an autosomal dominant trait and relates to a novel unassigned gene
Defazio, G.; Brancati, F.; Valente, E. M.; Caputo, Viviana; Pizzuti, Antonio; Martino, D.; Abbruzzese, G.; Livrea, P.; Berardelli, Alfredo; Dalla Piccola, Bruno - 01a Articolo in rivista
rivista: MOVEMENT DISORDERS (-WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, USA, NJ, 07030 -Lippincott, Williams & Wilkins:530 Walnut Street:Philadelphia, PA 19106:(800)638-3030, (301)223-2300, EMAIL: orders@lww.com, INTERNET: http://www.lww.com, Fax: (301)223-2320, (301)223-2320) pp. 207-212 - issn: 0885-3185 - wos: WOS:000181007900014 (30) - scopus: 2-s2.0-0344837904 (47)

11573/433100 - 2003 - Autosomal dominant hereditary benign telangiectasia maps to the CMC1 locus for capillary malformation on chromosome 5q14
F., Brancati; E. M., Valente; G., Tadini; Caputo, Viviana; A., Di Benedetto; C., Gelmetti; B., Dallapiccola - 01a Articolo in rivista
rivista: JOURNAL OF MEDICAL GENETICS (BMJ / British Medical Journal Publishing Group:PO Box 299, London WC1H 9TD United Kingdom:011 44 20 73836270, EMAIL: subscriptions@bmjgroup.com, INTERNET: http://www.bmjpg.com/bmj, Fax: 011 44 20 73836402) pp. 849-853 - issn: 0022-2593 - wos: WOS:000186682000012 (21) - scopus: 2-s2.0-0344010906 (26)

11573/433103 - 2002 - Novel locus for autosomal dominant pure hereditary spastic paraplegia (SPG19) maps to chromosome 9q33-q34
Enza Maria, Valente; Francesco, Brancati; Caputo, Viviana; Enrico, Bertini; Clarice, Patrono; Danilo, Costanti; Bruno, Dallapiccola - 01a Articolo in rivista
rivista: ANNALS OF NEUROLOGY (-attuale: WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, USA, NJ, 07030 -Lippincott, Williams & Wilkins:530 Walnut Street:Philadelphia, PA 19106:(800)638-3030, (301)223-2300, EMAIL: orders@lww.com, INTERNET: http://www.lww.com, Fax: (301)223-2320, (301)223-2320) pp. 681-685 - issn: 0364-5134 - wos: WOS:000175863700004 (25) - scopus: 2-s2.0-0036260783 (42)

11573/361355 - 2002 - Novel Italian family supports clinical and genetic heterogeneity of primary adult-onset torsion dystonia
Francesco, Brancati; Giovanni, Defazio; Caputo, Viviana; Enza Maria, Valente; Pizzuti, Antonio; Paolo, Livrea; Berardelli, Alfredo; Bruno, Dallapiccola - 01a Articolo in rivista
rivista: MOVEMENT DISORDERS (-WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, USA, NJ, 07030 -Lippincott, Williams & Wilkins:530 Walnut Street:Philadelphia, PA 19106:(800)638-3030, (301)223-2300, EMAIL: orders@lww.com, INTERNET: http://www.lww.com, Fax: (301)223-2320, (301)223-2320) pp. 392-397 - issn: 0885-3185 - wos: WOS:000174740500025 (15) - scopus: 2-s2.0-0036523847 (24)

11573/433101 - 2002 - PARK6 is a common cause of familial parkinsonism.
Valente, Em; Brancati, F; Caputo, Viviana; Graham, Ea; Davis, Mb; Ferraris, A; Breteler, Mm; Gasser, T; Bonifati, V; Bentivoglio, Ar; De Michele, G; Dürr, A; Cortelli, P; Filla, A; Meco, G; Oostra, Ba; Brice, A; Albanese, A; Dallapiccola, B; Wood, Nw; European Consortium On Genetic Susceptibility In Parkinson's, Disease - 01a Articolo in rivista
rivista: NEUROLOGICAL SCIENCES (-Springer-Verlag Italia -Masson SPA:via Flli Bressan 2, I 20126 Milan Italy:011 39 02 27074286, EMAIL: aboonamenti@masson.it, INTERNET: http://www.masson.it, Fax: 011 39 02 27074210) pp. 117-118 - issn: 1590-1874 - wos: WOS:000179317800034 (27) - scopus: 2-s2.0-18744380014 (33)

11573/358213 - 2002 - PARK6-Linked Parkinsonism Occurs in Several European Families
Valente, Em; F., Brancati; Ferraris, A; Graham, Ea; Davis, Mb; Breteler, Mm; Gasser, T; Bonifati, Vincenzo; Bentivoglio, Ar; De Michele, G; Durr, A; Cortelli, P; Wassilowsky, D; Harhangi, Bs; Rawal, N; Caputo, Viviana; Filla, A; Meco, Giuseppe; Oostra, Ba; Brice, A; Albanese, A; Dalla Piccola, Bruno; Wood, Nw; European Consortium On Genetic Susceptibility In Parkinson's, Disease - 01a Articolo in rivista
rivista: ANNALS OF NEUROLOGY (-attuale: WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, USA, NJ, 07030 -Lippincott, Williams & Wilkins:530 Walnut Street:Philadelphia, PA 19106:(800)638-3030, (301)223-2300, EMAIL: orders@lww.com, INTERNET: http://www.lww.com, Fax: (301)223-2320, (301)223-2320) pp. 14-18 - issn: 0364-5134 - wos: WOS:000173084800004 (89) - scopus: 2-s2.0-0036136951 (121)

© Università degli Studi di Roma "La Sapienza" - Piazzale Aldo Moro 5, 00185 Roma