Bruno Dallapiccola
1976–2025 年に発表
- 206
- 論文数
- 37,165
- 被引用数
- 105
- h 指数
- 204
- i10 指数
被引用数
引用元
国・地域
機関
分野
- Biochemistry, Genetics and Molecular Biology50%
- Medicine40.1%
- Neuroscience4.6%
- Immunology and Microbiology2.2%
- Agricultural and Biological Sciences0.6%
- Psychology0.4%
- その他2.1%
トピック
- Parkinson's Disease Mechanisms and Treatments3.9%
- Autophagy in Disease and Therapy2.7%
- Gut microbiota and health2.6%
- Mitochondrial Function and Pathology2.2%
- Liver Disease Diagnosis and Treatment2.1%
- Congenital heart defects research1.9%
- その他84.6%
共著者
- M. Cristina Digilio47
- Bruno Marino38
- Enza Maria Valente26
- Francesco Brancati26
- Maria Lisa Dentici26
- Marco Tartaglia25
- Antonio Novelli20
- Francesca Romana Lepri19
- Giuseppe Novelli19
- Anna Sárközy18
- Antonio Pizzuti15
- Enrico Bertini15
- Andrea Ciolfi14
- Giuseppe Zampino14
- Aldo Giannotti13
- Alessandro De Luca13
- Francesca Clementina Radio12
- Francesca Pantaleoni12
- Lorenza Putignani11
- Rita Mingarelli11
- Bruce D. Gelb10
- Cesare Rossi10
- Elisabetta Flex10
- Emanuele Bellacchio10
全論文
- Hereditary Early-Onset Parkinson's Disease Caused by Mutations in PINK1
著者: Enza Maria Valente, Patrick M. Abou‐Sleiman, Viviana Caputo, Miratul M. K. Muqit, Kirsten Harvey, Suzana Gispert, Zeeshan Ali, Domenico Del Turco, Anna Rita Bentivoglio, Daniel G. Healy, Alberto Albanese, Robert Nussbaum, Rafael González-Maldonado, Thomas Deller, Sergio Salvi, Pietro Cortelli, William P. Gilks, David S. Latchman, Robert J. Harvey, Bruno Dallapiccola, Georg Auburger, Nicholas Wood - Science 2004 被引用: 3,491
- Gut microbiota profiling of pediatric nonalcoholic fatty liver disease and obese patients unveiled by an integrated meta‐omics‐based approach
著者: Federica Del Chierico, Valério Nobili, Pamela Vernocchi, Alessandra Russo, Cristiano De Stefanis, Daniela Gnani, Cesare Furlanello, Alessandro Zandonà, Paola Paci, Giorgio Capuani, Bruno Dallapiccola, Alfredo Miccheli, Anna Alisi, Lorenza Putignani - Hepatology 2016 被引用: 711
- Transmembrane 6 superfamily member 2 gene variant disentangles nonalcoholic steatohepatitis from cardiovascular disease
著者: Paola Dongiovanni, Salvatore Petta, Cristina Maglio, Anna Ludovica Fracanzani, Rosaria Maria Pipitone, Enrico Mozzi, Benedetta Maria Motta, Dorota Kamińska, Raffaela Rametta, Stefania Grimaudo, Serena Pelusi, Tiziana Montalcini, Anna Alisi, Marco Maggioni, Vesa Kärjä, Jan Borén, Pirjo Käkelä, V. Di Marco, Chao Xing, Valério Nobili, Bruno Dallapiccola, Antonio Craxı̀, Jussi Pihlajamäki, Silvia Fargion, Lars Sjöström, Lena Carlsson, Stefano Romeo, Luca Valenti - Hepatology 2014 被引用: 529
- High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies
著者: Fadi F. Hamdan, Candace T. Myers, Patrick Cossette, Philippe Lemay, Dan Spiegelman, Alexandre D. Laporte, Christina Nassif, Ousmane Diallo, Jean Monlong, Maxime Cadieux‐Dion, Sylvia Dobrzeniecka, Caroline Meloche, Kyle Retterer, Megan T. Cho, Jill A. Rosenfeld, Weimin Bi, Christine Massicotte, Marguerite Miguet, Ledia Brunga, Brigid M. Regan, Kelly Mo, Cory Tam, Amy Schneider, Georgie Hollingsworth, David Fitzpatrick, Alan Donaldson, Natalie Canham, Edward Blair, Bronwyn Kerr, Andrew E. Fry, Rhys H. Thomas, Joss Shelagh, Jane A. Hurst, Helen Brittain, Moira Blyth, Robert Roger Lebel, Erica H. Gerkes, Laura Davis‐Keppen, Quinn Stein, Wendy K. Chung, Sara J. Dorison, Paul J. Benke, Emily Fassi, Nicole Corsten‐Janssen, Erik‐Jan Kamsteeg, Frédéric Tran Mau‐Them, Ange‐Line Bruel, Alain Verloès, Katrin Õunap, Monica H. Wojcik, Dara V.F. Albert, Sunita Venkateswaran, Tyson L. Ware, Dean Jones, Yu‐Chi Liu, Shekeeb S. Mohammad, Peyman Bizargity, Carlos A. Bacino, Vincenzo Leuzzi, Simone Martinelli, Bruno Dallapiccola, Marco Tartaglia, Lubov Blumkin, Klaas J. Wierenga, Gabriela Purcarin, James J. O’Byrne, Sylvia Stöckler, Anna Lehman, Boris Keren, Marie‐Christine Nouguès, Cyril Mignot, Stéphane Auvin, Caroline Nava, Susan M. Hiatt, Martina Bebin, Yunru Shao, Fernando Scaglia, Seema R. Lalani, Richard E. Frye, Imad T. Jarjour, Stéphanie Jacques, Renee-Myriam Boucher, Émilie Riou, Myriam Srour, Lionel Carmant, Anne Lortie, Philippe Major, Paola Diadori, François Dubeau, Guy D’Anjou, Guillaume Bourque, Samuel F. Berkovic, Lynette G. Sadleir, Philippe M. Campeau, Zoha Kibar, Ronald G. Lafrenière, Simon Girard, Saadet Mercimek‐Mahmutoglu, Cyrus Boelman, Guy A. Rouleau ほか 6 名 - The American Journal of Human Genetics 2017 被引用: 456
- LDL Receptor-Related Protein 5 (LRP5) Affects Bone Accrual and Eye Development
著者: Yaoqin Gong, Roger B. Slee, Naomi Fukai, Georges Rawadi, Sergio Roman‐Roman, Anthony M. Reginato, Hongwei Wang, Tim Cundy, F. H. Glorieux, Dorit Lev, Margaret Zacharin, Konrad Oexle, J. R. Marcelino, W. Suwairi, Shauna Heeger, G. Sabatakos, Suneel Apte, William N. Adkins, Jeremy Allgrove, Mine Arslan‐Kirchner, Jennifer Batch, Peter Beighton, Graeme C. Black, Richard G. Boles, Laurence M. Boon, C Borrone, HG Brunner, Georges F. Carle, Bruno Dallapiccola, Anne De Paepe, B. Floege, M. L. Halfhide, Bryan Hall, Raoul C. M. Hennekam, Tatsuo Hirose, Anneke Jans, Harald Jüppner, Chong Ae Kim, Kim M. Keppler‐Noreuil, A. Kohlschuetter, Didier Lacombe, Marie Lambert, Emmanuelle Lemyre, Tom G.W. Letteboer, Leena Peltonen, Raj Ramesar, Marta Romanengo, Hannu Somer, Elisabeth Steichen‐Gersdorf, B Steinmann, Beth Sullivan, Andrea Superti‐Furga, Walter Swoboda, M. J. van den Boogaard, Wim Van Hul, Miikka Vikkula, Marcela Votruba, Bernhard Zabel, Teresa García, Roland Baron, Bjørn R. Olsen, Matthew L. Warman - Cell 2001 被引用: 2,248
- Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders
著者: Víctor Faùndes, William G. Newman, Laura Bernardini, Natalie Canham, Jill Clayton‐Smith, Bruno Dallapiccola, Sally Davies, Michelle Demos, Amy Goldman, Harinder Gill, Rachel Horton, Bronwyn Kerr, Dhavendra Kumar, Anna Lehman, Shane McKee, Jenny Morton, Michael Parker, Julia Rankin, Lisa Robertson, I. Karen Temple, Shelin Adam, Christèle du Souich, Alison M. Elliott, Anna Lehman, Jill Mwenifumbo, Tanya N. Nelson, Clara van Karnebeek, Jan M. Friedman, Jeremy F. McRae, Stephen Clayton, Tomas Fitzgerald, Joanna Kaplanis, Elena Prigmore, Diana Rajan, Alejandro Sifrim, Stuart Aitken, Nadia Akawi, Mohsan Alvi, Kirsty Ambridge, Daniel M. Barrett, Tanya Bayzetinova, Philip Jones, Wendy D. Jones, Daniel King, Netravathi Krishnappa, Laura E. Mason, Tarjinder Singh, Adrian R. Tivey, Munaza Ahmed, Uruj Anjum, Hayley Archer, Ruth Armstrong, Jana Awada, Meena Balasubramanian, Siddharth Banka, Diana Baralle, Angela Barnicoat, Paul Batstone, David Baty, Chris Bennett, Jonathan Berg, Birgitta Bernhard, A. Paul Bevan, Maria Bitner‐Glindzicz, Edward Blair, Moira Blyth, David Bohanna, Louise Bourdon, David Bourn, Lisa Bradley, Angela F. Brady, Simon Brent, Carole Brewer, Kate Brunstrom, David J. Bunyan, John Burn, Natalie Canham, Bruce Castle, Kate Chandler, Elena Chatzimichali, Deirdre Cilliers, Angus Clarke, Susan Clasper, Jill Clayton‐Smith, Virginia Clowes, Andrea Coates, Trevor Cole, Irina Colgiu, Amanda Collins, Morag N. Collinson, Fiona Connell, Nicola Cooper, Helen Cox, Lara Cresswell, Gareth Cross, Yanick J. Crow, Mariella D’Alessandro, Tabib Dabir, Rosemarie Davidson, Sally Davies ほか 231 名 - The American Journal of Human Genetics 2017 被引用: 278
- Development and Validation of a Multidimensional Prognostic Index for One-Year Mortality from Comprehensive Geriatric Assessment in Hospitalized Older Patients
著者: Alberto Pilotto, Luigi Ferrucci, Marilisa Franceschi, Luigi D’Ambrosio, Carlo Scarcelli, Leandro Cascavilla, Francesco Paris, Giuliana Placentino, Davide Seripa, Bruno Dallapiccola, Gioacchino Leandro - Rejuvenation Research 2008 被引用: 502
- Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy
著者: Bhaswati Pandit, Anna Sárközy, L Pennacchio, Claudio Carta, Kimihiko Oishi, Simone Martinelli, Edgar A. Pogna, Wendy Schackwitz, Anna Ustaszewska, Andrew P. Landstrom, J. Martijn Bos, Steve R. Ommen, Giorgia Esposito, Francesca Romana Lepri, Christian Faul, Peter Mündel, Juan Pedro López Siguero, Romano Tenconi, Angelo Selicorni, Cesare Rossi, Laura Mazzanti, Isabella Torrente, Bruno Marino, M. Cristina Digilio, Giuseppe Zampino, Michael J. Ackerman, Bruno Dallapiccola, Marco Tartaglia, Bruce D. Gelb - Nature Genetics 2007 被引用: 702
- The human gut microbiota: a dynamic interplay with the host from birth to senescence settled during childhood
著者: Lorenza Putignani, Federica Del Chierico, Andrea Petrucca, Pamela Vernocchi, Bruno Dallapiccola - Pediatric Research 2014 被引用: 246
- SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype
著者: Marialetizia Motta, Giulia Fasano, Sina Gredy, Julia Brinkmann, Adeline Bonnard, Pelin Özlem Şimşek‐Kiper, Elif Yılmaz Güleç, L. Essaddam, Gülen Eda Ütine, Ingrid G. Prandi, Martina Venditti, Francesca Pantaleoni, Francesca Clementina Radio, Andrea Ciolfi, Stefania Petrini, Federica Consoli, Cédric Vignal, Denis Hepbasli, Melanie Ullrich, Elke de Boer, Lisenka E.L.M. Vissers, Sami Gritli, Cesare Rossi, Alessandro De Luca, S. Ben Bêcher, Bruce D. Gelb, Bruno Dallapiccola, Antonella Lauri, Giovanni Chillemi, Kai Schuh, Hélène Cavé, Martin Zenker, Marco Tartaglia - The American Journal of Human Genetics 2021 被引用: 80
- PINK1 mutations are associated with sporadic early‐onset parkinsonism
著者: Enza Maria Valente, Sergio Salvi, Tàmara Ialongo, Roberta Marongiu, Antonio Emanuele Elia, Viviana Caputo, Luigi Romito, Alberto Albanese, Bruno Dallapiccola, Anna Rita Bentivoglio - Annals of Neurology 2004 被引用: 498
- Mediterranean Diet and Health: Food Effects on Gut Microbiota and Disease Control
著者: Federica Del Chierico, Pamela Vernocchi, Bruno Dallapiccola, Lorenza Putignani - International Journal of Molecular Sciences 2014 被引用: 204
- Joubert Syndrome and related disorders
著者: Francesco Brancati, Bruno Dallapiccola, Enza Maria Valente - Orphanet Journal of Rare Diseases 2010 被引用: 468
- Gut microbiota signatures in cystic fibrosis: Loss of host CFTR function drives the microbiota enterophenotype
著者: Pamela Vernocchi, Federica Del Chierico, Alessandra Russo, Fabio Majo, Martina Rossitto, Mariacristina Valerio, Luca Casadei, Antonietta La Storia, Francesca De Filippis, Cristiano Rizzo, Cesare Manetti, Paola Paci, Danilo Ercolini, Federico Marini, Ersilia Fiscarelli, Bruno Dallapiccola, V. Lucidi, Alfredo Miccheli, Lorenza Putignani - PLoS ONE 2018 被引用: 123
- GermlineBRAFmutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: Molecular diversity and associated phenotypic spectrum
著者: Anna Sárközy, Claudio Carta, Sonia Moretti, Giuseppe Zampino, M. Cristina Digilio, Francesca Pantaleoni, Anna Paola Scioletti, Giorgia Esposito, Viviana Cordeddu, Francesca Romana Lepri, Valentina Petrangeli, Maria Lisa Dentici, Grazia M.S. Mancini, Angelo Selicorni, Cesare Rossi, Laura Mazzanti, Bruno Marino, Giovanni Battista Ferrero, Margherita Silengo, Luigi Memo, Franco Stanzial, Francesca Faravelli, Liborio Stuppia, Efisio Puxeddu, Bruce D. Gelb, Bruno Dallapiccola, Marco Tartaglia - Human Mutation 2009 被引用: 305
- Whole genome sequencing diagnostic yield for paediatric patients with suspected genetic disorders: systematic review, meta-analysis, and GRADE assessment
著者: Mario Cesare Nurchis, Gerardo Altamura, Maria Teresa Riccardi, Francesca Clementina Radio, Giovanni Chillemi, Enrico Bertini, Jacopo Garlasco, Marco Tartaglia, Bruno Dallapiccola, Gianfranco Damiani - Archives of Public Health 2023 被引用: 63
- Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused byRASA1 mutations
著者: Nicole Revençu, Laurence M. Boon, John B. Mulliken, O Enjolras, Maria Cordisco, Patricia E. Burrows, Philippe Clapuyt, Frank Hammer, Josée Dubois, Eulàlia Baselga, Francesco Brancati, Robin Carder, José Miguel Ceballos Quintal, Bruno Dallapiccola, Gayle Fischer, Ilona J. Frieden, Maria C. Garzón, John Harper, Jennifer Johnson-Patel, Christine Labrèze, Loreto Martorell, Harriet J. Paltiel, Annette Pohl, Julie Prendiville, I. Quéré, Dawn H. Siegel, Enza Maria Valente, Annet van Hagen, Liselot van Hest, Keith K. Vaux, Asunción Vicente, Lisa Weibel, David Chitayat, Miikka Vikkula - Human Mutation 2008 被引用: 430
- Gut Microbiota Dysbiosis as Risk and Premorbid Factors of IBD and IBS Along the Childhood–Adulthood Transition
著者: Lorenza Putignani, Federica Del Chierico, Pamela Vernocchi, Michele Cicala, Salvatore Cucchiara, Bruno Dallapiccola - Inflammatory Bowel Diseases 2015 被引用: 154
- Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum
著者: Marialetizia Motta, Luca Pannone, Francesca Pantaleoni, Gianfranco Bocchinfuso, Francesca Clementina Radio, Serena Cecchetti, Andrea Ciolfi, Martina Di Rocco, Mariet W. Elting, Eva H. Brilstra, Stefania Boni, Laura Mazzanti, Federica Tamburrino, Larry Walsh, Katelyn Payne, Alberto Fernández‐Jaén, Mythily Ganapathi, Wendy K. Chung, Dorothy K. Grange, Ashita Dave‐Wala, Shalini C. Reshmi, Dennis W. Bartholomew, Danielle Mouhlas, Giovanna Carpentieri, Alessandro Bruselles, Simone Pizzi, Emanuele Bellacchio, Francesca Piceci‐Sparascio, Christina Lißewski, Julia Brinkmann, Ronald R. Waclaw, Quinten Waisfisz, Koen L.I. van Gassen, Ingrid M. Wentzensen, Michelle M. Morrow, Sara Álvarez, Mónica Mártinez‐García, Alessandro De Luca, Luigi Memo, Giuseppe Zampino, Cesare Rossi, Marco Seri, Bruce D. Gelb, Martin Zenker, Bruno Dallapiccola, Lorenzo Stella, Carlos E. Prada, Simone Martinelli, Elisabetta Flex, Marco Tartaglia - The American Journal of Human Genetics 2020 被引用: 95
- Grouping of Multiple-Lentigines/LEOPARD and Noonan Syndromes on the PTPN11 Gene
著者: M. Cristina Digilio, Emanuela Conti, Anna Sárközy, Rita Mingarelli, Tania Dottorini, Bruno Marino, Antonio Pizzuti, Bruno Dallapiccola - The American Journal of Human Genetics 2002 被引用: 422
- Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies
著者: Stephanie Bielas, Jennifer L. Silhavy, Francesco Brancati, Marina V. Kisseleva, Lihadh Al‐Gazali, László Sztriha, Riad Bayoumi, Maha S. Zaki, Alice Abdel Aleem, Rasim Özgür Rosti, Hülya Kayserili, Dominika Swistun, Lesley C. Scott, Enrico Bertini, Eugen Boltshauser, Elisa Fazzi, Lorena Travaglini, Seth J. Field, Stéphanie Gayral, Monique Jacoby, Stéphane Schurmans, Bruno Dallapiccola, Philip W. Majerus, Enza Maria Valente, Joseph G. Gleeson - Nature Genetics 2009 被引用: 412
- Gut Microbiota Markers in Obese Adolescent and Adult Patients: Age-Dependent Differential Patterns
著者: Federica Del Chierico, Francesca Abbatini, Alessandra Russo, Andrea Quagliariello, Sofia Reddel, Danila Capoccia, Romina Caccamo, Stefano Ginanni Corradini, Valério Nobili, Francesco De Peppo, Bruno Dallapiccola, Frida Leonetti, Gianfranço Silecchia, Lorenza Putignani - Frontiers in Microbiology 2018 被引用: 181
- Gut Microbiota Profiling and Gut–Brain Crosstalk in Children Affected by Pediatric Acute-Onset Neuropsychiatric Syndrome and Pediatric Autoimmune Neuropsychiatric Disorders Associated With Streptococcal Infections
著者: Andrea Quagliariello, Federica Del Chierico, Alessandra Russo, Sofia Reddel, Giulia Conte, Loris Riccardo Lopetuso, Gianluca Ianiro, Bruno Dallapiccola, Francesco Cardona, Antonio Gasbarrini, Lorenza Putignani - Frontiers in Microbiology 2018 被引用: 119
- Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome
著者: Christiane K. Bauer, Paolo Calligari, Francesca Clementina Radio, Viviana Caputo, Maria Lisa Dentici, N Falah, Frances A. High, Francesca Pantaleoni, Sabina Barresi, Andrea Ciolfi, Simone Pizzi, Alessandro Bruselles, Richard Person, Sarah Richards, Megan T. Cho, Daniela Judith Claps Sepulveda, S. Pro, Roberta Battini, Giuseppe Zampino, M. Cristina Digilio, Gianfranco Bocchinfuso, Bruno Dallapiccola, Lorenzo Stella, Marco Tartaglia - The American Journal of Human Genetics 2018 被引用: 94
