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D

Donatella Greco

catholic university of the sacred heart
H指数:22
被引数:2,841

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Reanalysis of Undiagnosed Neurodevelopmental Disorder Cases: From RNU4-2 Variants to Clinical Phenotypes
NEUROLOGY-GENETICS
IF3.7
2025-12-011
PRE
Di Letto, Pasquale; De Leonibus, Chiara; Palmieri, Francesca Pia; Zanobio, Mariateresa; Scarpato, Margherita; Cetrangolo, Viviana; Rahman, Sarah Iffat; Selicorni, Angelo; Mariani, Milena; D'Arrigo, Stefano; Ciaccio, Claudia; Milani, Donatella; Ajmone, Paola Francesca; Morleo, Manuela; Spampanato, Carmine; Piluso, Giulio; Zollino, Marcella; L'Erario, Federica Francesca; Greco, Donatella; Capra, Valeria; Scala, Marcello; Romano, Ferruccio; Terrone, Gaetano; De Falco, Alessandro; Paolella, Chiara; Mastrangelo, Mario; Ricciardi, Giacomina; Brunetti-Pierri, Nicola; Nigro, Vincenzo; Torella, Annalaura
White–Sutton Syndrome: Insight of an Italian Cohort of 19 Subjects

White–Sutton综合征：19例意大利队列的研究洞见

Clinical Genetics
IF2.3
2025-07-230
OAAI
Anna Facchini; Maria Pina Concas; Stefania Zampieri; Iris Scala; Claudio Graziano; Anna Maria Innoceta; Marina Trivisano; Angela De Dominicis; Gabriele Trimarchi; Livia Garavelli; Margherita Baldassarri; Ilaria De Maggio; Francesca Mari; Donatella Greco; Paolo Gasparini
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

剪接体功能异常导致具有重叠特征的神经发育障碍

JOURNAL OF CLINICAL INVESTIGATION
IF13.6
2024-01-026
OAAI
Li, Dong; Wang, Qin; Bayat, Allan; Battig, Mark R.; Zhou, Yijing; Bosch, Danielle G. M.; van Haaften, Gijs; Granger, Leslie; Petersen, Andrea K.; Perez-Jurado, Luis A.; Aznar-Lain, Gemma; Aneja, Anushree; Hancarova, Miroslava; Bendova, Sarka; Schwarz, Martin; Pourova, Radka Kremlikova; Sedlacek, Zdenek; Keena, Beth A.; March, Michael E.; Hou, Cuiping; O'Connor, Nora; Bhoj, Elizabeth J.; Harr, Margaret H.; Lemire, Gabrielle; Boycott, Kym M.; Towne, Meghan; Li, Megan; Tarnopolsky, Mark; Brady, Lauren; Parker, Michael J.; Faghfoury, Hanna; Parsley, Lea Kristin; Agolini, Emanuele; Dentici, Maria Lisa; Novelli, Antonio; Wright, Meredith; Palmquist, Rachel; Lai, Khanh; Scala, Marcello; Striano, Pasquale; Iacomino, Michele; Zara, Federico; Cooper, Annina; Maarup, Timothy J.; Byler, Melissa; Lebel, Robert Roger; Balci, Tugce B.; Louie, Raymond; Lyons, Michael; Douglas, Jessica; Nowak, Catherine; Afenjar, Alexandra; Hoyer, Juliane; Keren, Boris; Maas, Saskia M.; Motazacker, Mahdi M.; Martinez-Agosto, Julian A.; Rabani, Ahna M.; McCormick, Elizabeth M.; Falk, Marni J.; Ruggiero, Sarah M.; Helbig, Ingo; Moller, Rikke S.; Tessarollo, Lino; Ardori, Francesco Tomassoni; Palko, Mary Ellen; Hsieh, Tzung-Chien; Krawitz, Peter M.; Ganapathi, Mythily; Gelb, Bruce D.; Jobanputra, Vaidehi; Wilson, Ashley; Greally, John; Jacquemont, Sebastien; Jizi, Khadije; Bruel, Ange-Line; Quelin, Chloe; Misra, Vinod K.; Chick, Erika; Romano, Corrado; Greco, Donatella; Arena, Alessia; Morleo, Manuela; Nigro, Vincenzo; Seyama, Rie; Uchiyama, Yuri; Matsumoto, Naomichi; Taira, Ryoji; Tashiro, Katsuya; Sakai, Yasunari; Yigit, Gokhan; Wollnik, Bernd; Wagner, Michael; Kutsche, Barbara; Hurst, Anna C. E.; Thompson, Michelle L.; Schmidt, Ryan; Randolph, Linda; Spillmann, Rebecca C.; Shashi, Vandana; Higginbotham, Edward J.; Cordeiro, Dawn; Carnevale, Amanda; Costain, Gregory; Khan, Tayyaba; Funalot, Benoit; Mau-Them, Frederic Tran; Moya, Luis Fernandez Garcia; Garcia-Minaur, Sixto; Osmond, Matthew; Chad, Lauren; Quercia, Nada; Carrasco, Diana; Li, Chumei; Sanchez-Valle, Amarilis; Kelley, Meghan; Nizon, Mathilde; Jensson, Brynjar O.; Sulem, Patrick; Stefansson, Kari; Gorokhova, Svetlana; Busa, Tiffany; Rio, Marlene; Habdallah, Hamza Hadj; Lesieur-Sebellin, Marion; Amiel, Jeanne; Pingault, Veronique; Mercier, Sandra; Vincent, Marie; Philippe, Christophe; Fatus-Fauconnier, Clemence; Friend, Kathryn; Halligan, Rebecca K.; Biswas, Sunita; Rosser, Jane; Shoubridge, Cheryl; Corbett, Mark; Barnett, Christopher; Gecz, Jozef; Leppig, Kathleen; Slavotinek, Anne; Marcelis, Carlo; Pfundt, Rolph; de Vries, Bert B. A.; van Slegtenhorst, Marjon A.; Brooks, Alice S.; Cogne, Benjamin; Rambaud, Thomas; Tumer, Zeynep; Zackai, Elaine H.; Akizu, Naiara; Song, Yuanquan; Hakonarson, Hakon
The Italian registry for patients with Prader-Willi syndrome

意大利prader-willi综合征患者登记处

ORPHANET JOURNAL OF RARE DISEASES
IF3.5
2023-02-156
OAAI
Salvatore, Marco; Torreri, Paola; Grugni, Graziano; Rocchetti, Adele; Maghnie, Mohamad; Patti, Giuseppa; Crino, Antonino; Elia, Maurizio; Greco, Donatella; Romano, Corrado; Franzese, Adriana; Mozzillo, Enza; Colao, Annamaria; Pugliese, Gabriella; Pagotto, Uberto; Lo Preiato, Valentina; Scarano, Emanuela; Schiavariello, Concetta; Tornese, Gianluca; Fintini, Danilo; Bocchini, Sarah; Osimani, Sara; De Sanctis, Luisa; Sacco, Michele; Rutigliano, Irene; Delvecchio, Maurizio; Faienza, Maria Felicia; Wasniewska, Malgorzata; Corica, Domenico; Stagi, Stefano; Guazzarotti, Laura; Maffei, Pietro; Dassie, Francesca; Taruscio, Domenica
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders (vol 11, 4932, 2020)

大规模靶向测序确定神经发育障碍的风险基因 (第11卷，4932卷，2020)

NATURE COMMUNICATIONS
IF15.7
2020-10-214
OAAI
Wang, Tianyun; Hoekzema, Kendra; Vecchio, Davide; Wu, Huidan; Sulovari, Arvis; Coe, Bradley P.; Gillentine, Madelyn A.; Wilfert, Amy B.; Perez-Jurado, Luis A.; Kvarnung, Malin; Sleyp, Yoeri; Earl, Rachel K.; Rosenfeld, Jill A.; Geisheker, Madeleine R.; Han, Lin; Du, Bing; Barnett, Chris; Thompson, Elizabeth; Shaw, Marie; Carroll, Renee; Friend, Kathryn; Catford, Rachael; Palmer, Elizabeth E.; Zou, Xiaobing; Ou, Jianjun; Li, Honghui; Guo, Hui; Gerdts, Jennifer; Avola, Emanuela; Calabrese, Giuseppe; Elia, Maurizio; Greco, Donatella; Lindstrand, Anna; Nordgren, Ann; Anderlid, Britt-Marie; Vandeweyer, Geert; Van Dijck, Anke; Van der Aa, Nathalie; McKenna, Brooke; Hancarova, Miroslava; Bendova, Sarka; Havlovicova, Marketa; Malerba, Giovanni; Bernardina, Bernardo Dalla; Muglia, Pierandrea; van Haeringen, Arie; Hoffer, Mariette J. V.; Franke, Barbara; Cappuccio, Gerarda; Delatycki, Martin; Lockhart, Paul J.; Manning, Melanie A.; Liu, Pengfei; Scheffer, Ingrid E.; Brunetti-Pierri, Nicola; Rommelse, Nanda; Amaral, David G.; Santen, Gijs W. E.; Trabetti, Elisabetta; Sedlacek, Zdenek; Michaelson, Jacob J.; Pierce, Karen; Courchesne, Eric; Kooy, R. Frank; Nordenskjold, Magnus; Romano, Corrado; Peeters, Hilde; Bernier, Raphael A.; Gecz, Jozef; Xia, Kun; Eichler, Evan E.
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

大规模靶向测序鉴定神经发育障碍的风险基因

NATURE COMMUNICATIONS
IF15.7
2020-10-01151
OAAI
Wang, Tianyun; Hoekzema, Kendra; Vecchio, Davide; Wu, Huidan; Sulovari, Arvis; Coe, Bradley P.; Gillentine, Madelyn A.; Wilfert, Amy B.; Perez-Jurado, Luis A.; Kvarnung, Malin; Sleyp, Yoeri; Earl, Rachel K.; Rosenfeld, Jill A.; Geisheker, Madeleine R.; Han, Lin; Du, Bing; Barnett, Chris; Thompson, Elizabeth; Shaw, Marie; Carroll, Renee; Friend, Kathryn; Catford, Rachael; Palmer, Elizabeth E.; Zou, Xiaobing; Ou, Jianjun; Li, Honghui; Guo, Hui; Gerdts, Jennifer; Avola, Emanuela; Calabrese, Giuseppe; Elia, Maurizio; Greco, Donatella; Lindstrand, Anna; Nordgren, Ann; Anderlid, Britt-Marie; Vandeweyer, Geert; Van Dijck, Anke; Van der Aa, Nathalie; McKenna, Brooke; Hancarova, Miroslava; Bendova, Sarka; Havlovicova, Marketa; Malerba, Giovanni; Dalla Bernardina, Bernardo; Muglia, Pierandrea; van Haeringen, Arie; Hoffer, Mariette J. V.; Franke, Barbara; Cappuccio, Gerarda; Delatycki, Martin; Lockhart, Paul J.; Manning, Melanie A.; Liu, Pengfei; Scheffer, Ingrid E.; Brunetti-Pierri, Nicola; Rommelse, Nanda; Amaral, David G.; Santen, Gijs W. E.; Trabetti, Elisabetta; Sedlacek, Zdenek; Michaelson, Jacob J.; Pierce, Karen; Courchesne, Eric; Kooy, R. Frank; Nordenskjold, Magnus; Romano, Corrado; Peeters, Hilde; Bernier, Raphael A.; Gecz, Jozef; Xia, Kun; Eichler, Evan E.
Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing
JOURNAL OF MEDICAL GENETICS
IF3.7
2013-10-1197
OA
Schuurs-Hoeijmakers, Janneke H. M.; Vulto-van Silfhout, Anneke T.; Vissers, Lisenka E. L. M.; van de Vondervoort, Ilse I. G. M.; van Bon, Bregje W. M.; de Ligt, Joep; Gilissen, Christian; Hehir-Kwa, Jayne Y.; Neveling, Kornelia; del Rosario, Marisol; Hira, Gausiya; Reitano, Santina; Vitello, Aurelio; Failla, Pinella; Greco, Donatella; Fichera, Marco; Galesi, Ornella; Kleefstra, Tjitske; Greally, Marie T.; Ockeloen, Charlotte W.; Willemsen, Marjolein H.; Bongers, Ernie M. H. F.; Janssen, Irene M.; Pfundt, Rolph; Veltman, Joris A.; Romano, Corrado; Willemsen, Michel A.; van Bokhoven, Hans; Brunner, Han G.; de Vries, Bert B. A.; de Brouwer, Arjan P. M.
Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome
PLOS GENETICS
IF3.7
2011-07-14177
OAAI
Bonaglia, Maria Clara; Giorda, Roberto; Beri, Silvana; De Agostini, Cristina; Novara, Francesca; Fichera, Marco; Grillo, Lucia; Galesi, Ornella; Vetro, Annalisa; Ciccone, Roberto; Bonati, Maria Teresa; Giglio, Sabrina; Guerrini, Renzo; Osimani, Sara; Marelli, Susan; Zucca, Claudio; Grasso, Rita; Borgatti, Renato; Mani, Elisa; Motta, Cristina; Molteni, Massimo; Romano, Corrado; Greco, Donatella; Reitano, Santina; Baroncini, Anna; Lapi, Elisabetta; Cecconi, Antonella; Arrigo, Giulia; Patricelli, Maria Grazia; Pantaleoni, Chiara; D'Arrigo, Stefano; Riva, Daria; Sciacca, Francesca; Dalla Bernardina, Bernardo; Zoccante, Leonardo; Darra, Francesca; Termine, Cristiano; Maserati, Emanuela; Bigoni, Stefania; Priolo, Emanuela; Bottani, Armand; Gimelli, Stefania; Bena, Frederique; Brusco, Alfredo; di Gregorio, Eleonora; Bagnasco, Irene; Giussani, Ursula; Nitsch, Lucio; Politi, Pierluigi; Luisa Martinez-Frias, Maria; Luisa Martinez-Fernandez, Maria; Martinez Guardia, Nieves; Bremer, Anna; Anderlid, Britt-Marie; Zuffardi, Orsetta

研究方向

暂未获取到该数据
C
Corrado Romano
H 指数:60论文数:416被引数:1.8万
M
Maurizio Elia
H 指数:58论文数:435被引数:1.2万
F
Francesco Calı̀
H 指数:26论文数:141被引数:4,443
M
Marco Fichera
H 指数:39论文数:148被引数:9,983
O
Ornella Galesi
H 指数:17论文数:41被引数:1,323
C
Carmelo Schepis
H 指数:20论文数:161被引数:1,402
L
Luis A. Pérez‐Jurado
H 指数:53论文数:206被引数:8,668
J
Jozef Gécz
H 指数:97论文数:804被引数:3.0万
P
Pinella Failla
H 指数:18论文数:63被引数:2,583
M
Mirella Vinci
H 指数:13论文数:77被引数:1,263