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B

Barbara Pasini

città della salute e della scienza university hospital
H指数:55
被引数:1.5万

个人简介

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教育背景

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工作经历

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荣誉奖项

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The NeuroWES project: lessons learned from comprehensive phenotyping and genetic analysis of neurodevelopmental disorders over a decade

神经WES项目：十年间对神经发育障碍进行综合表型分析和遗传分析的经验总结

Human Genetics
IF3.6
2026-07-080
OAAI
Simona Cardaropoli; Lisa Pavinato; Slavica Trajkova; Diana Carli; Verdiana Pullano; Flavia Palermo; Alessandro Mussa; Elisa Biamino; Vincenzo Antona; Andrea Zonta; Paola Dimartino; Mariia Zadorozhna; Alessandro Bruselles; Roberto Keller; Barbara Pasini; Enrico Grosso; Giorgia Mandrile; Joseph D. Buxbaum; Silvia De Rubeis; Tommaso Pippucci; Marco Tartaglia; Elisa Giorgio; Alfredo Brusco; Giovanni Battista Ferrero
LONG-NEXT: A new accurate and efficient NGS-based method for GBA1 analysis in Parkinson disease

LONG-NEXT：一种用于帕金森病GBA1分析的新型准确且高效的NGS方法

PARKINSONISM & RELATED DISORDERS
IF3.4
2025-05-010
OAAI
Cuconato, Giada; Palmieri, Ilaria; Percetti, Marco; Pagliarani, Serena; Tenace, Sara; Morelli, Marco J.; Zapparoli, Ettore; Avenali, Micol; Carelli, Valerio; Dentelli, Patrizia; Fiorentino, Alessia; Gaudio, Andrea; Ledda, Claudia; Mandich, Paola; Marino, Silvia; Martone, Tiziana; Minardi, Raffaella; Origone, Paola; Ormanbekova, Danara; Pasini, Barbara; Scarabotto, Anna; Sorbera, Chiara; Trevisan, Lucia; Di Fonzo, Alessio; Monfrini, Edoardo
DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity
HUMAN GENETICS AND GENOMICS ADVANCES
IF3.6
2024-07-010
OAAI
Trajkova, Slavica; Kerkhof, Jennifer; Sebastiano, Matteo Rossi; Pavinato, Lisa; Ferrero, Enza; Giovenino, Chiara; Carli, Diana; Di Gregorio, Eleonora; Marinoni, Roberta; Mandrile, Giorgia; Palermo, Flavia; Carestiato, Silvia; Cardaropoli, Simona; Pullano, Verdiana; Rinninella, Antonina; Giorgio, Elisa; Pippucci, Tommaso; Dimartino, Paola; Rzasa, Jessica; Rooney, Kathleen; McConkey, Haley; Petlichkovski, Aleksandar; Pasini, Barbara; Sukarova-Angelovska, Elena; Campbell, Christopher M.; Metcalfe, Kay; Jenkinson, Sarah; Banka, Siddharth; Mussa, Alessandro; Ferrero, Giovanni Battista; Sadikovic, Bekim; Brusco, Alfredo
Identification of a robust DNA methylation signature for Fanconi anemia
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2023-11-013
OAAI
Pagliara, Daria; Ciolfi, Andrea; Pedace, Lucia; Haghshenas, Sadegheh; Ferilli, Marco; Levy, Michael A.; Miele, Evelina; Nardini, Claudia; Cappelletti, Camilla; Relator, Raissa; Pitisci, Angela; De Vito, Rita; Pizzi, Simone; Kerkhof, Jennifer; McConkey, Haley; Nazio, Francesca; Kant, Sarina G.; Di Donato, Maddalena; Agolini, Emanuele; Matraxia, Marta; Pasini, Barbara; Pelle, Alessandra; Galluccio, Tiziana; Novelli, Antonio; Barakat, Tahsin Stefan; Andreani, Marco; Rossi, Francesca; Mecucci, Cristina; Savoia, Anna; Sadikovic, Bekim; Locatelli, Franco; Tartaglia, Marco
Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility
HUMAN GENETICS
IF3.6
2023-04-203
PRE
Leone, Maria Pia; Morlino, Silvia; Nardella, Grazia; Pracella, Riccardo; Giachino, Daniela; Celli, Luca; Baldo, Demetrio; Turolla, Licia; Piccione, Maria; Salzano, Emanuela; Buse, Martina; Lastella, Patrizia; Zollino, Marcella; Cantone, Rachele; Grosso, Enrico; Zonta, Andrea; Pasini, Barbara; Piscopo, Carmelo; De Maggio, Ilaria; Priolo, Manuela; Mammi, Corrado; Foiadelli, Thomas; Trabatti, Chiara; Savasta, Salvatore; Iolascon, Achille; Ferraris, Alessandro; Lodato, Valentina; Di Giosaffatte, Niccolo; Majore, Silvia; Selicorni, Angelo; Petracca, Antonio; Fusco, Carmela; Celli, Mauro; Guarnieri, Vito; Micale, Lucia; Castori, Marco
Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes

在未解决的神经发育疾病病例中偏斜的X染色体失活可以指导对X连锁基因的重新评估

EUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
2023-03-0614
OA
Giovenino, Chiara; Trajkova, Slavica; Pavinato, Lisa; Cardaropoli, Simona; Pullano, Verdiana; Ferrero, Enza; Sukarova-Angelovska, Elena; Carestiato, Silvia; Salmin, Paola; Rinninella, Antonina; Battaglia, Anthony; Bertoli, Luca; Fadda, Antonio; Palermo, Flavia; Carli, Diana; Mussa, Alessandro; Dimartino, Paola; Bruselles, Alessandro; Froukh, Tawfiq; Mandrile, Giorgia; Pasini, Barbara; De Rubeis, Silvia; Buxbaum, Joseph D.; Pippucci, Tommaso; Tartaglia, Marco; Rossato, Marzia; Delledonne, Massimo; Ferrero, Giovanni Battista; Brusco, Alfredo
From SGAP-Model to SGAP-Score: A Simplified Predictive Tool for Post-Surgical Recurrence of Pheochromocytoma

从SGAP模型到SGAP评分: 嗜铬细胞瘤术后复发的简化预测工具

BIOMEDICINES
IF3.9
2022-06-033
OAAI
Parasiliti-Caprino, Mirko; Bioletto, Fabio; Lopez, Chiara; Bollati, Martina; Maletta, Francesca; Caputo, Marina; Gasco, Valentina; La Grotta, Antonio; Limone, Paolo; Borretta, Giorgio; Volante, Marco; Papotti, Mauro; Pia, Anna; Terzolo, Massimo; Morino, Mario; Pasini, Barbara; Veglio, Franco; Ghigo, Ezio; Arvat, Emanuela; Maccario, Mauro
Development and internal validation of a predictive model for the estimation of pheochromocytoma recurrence risk after radical surgery
EUROPEAN JOURNAL OF ENDOCRINOLOGY
IF5.2
2022-03-016
PRE
Parasiliti-Caprino, Mirko; Bioletto, Fabio; Lopez, Chiara; Maletta, Francesca; Caputo, Marina; Gasco, Valentina; La Grotta, Antonio; Limone, Paolo; Borretta, Giorgio; Volante, Marco; Papotti, Mauro; Terzolo, Massimo; Morino, Mario; Pasini, Barbara; Veglio, Franco; Ghigo, Ezio; Arvat, Emanuela; Maccario, Mauro
Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants

携带BRCA1和BRCA2致病错义变异体的女性与携带蛋白截断变异体的女性相比，患乳腺癌和卵巢癌的风险

GENETICS IN MEDICINE
IF6.2
2022-01-0117
OAAI
Li, Hongyan; Engel, Christoph; de la Hoya, Miguel; Peterlongo, Paolo; Yannoukakos, Drakoulis; Livraghi, Luca; Radice, Paolo; Thomassen, Mads; Hansen, Thomas V. O.; Gerdes, Anne-Marie; Nielsen, Henriette R.; Caputo, Sandrine M.; Zambelli, Alberto; Borg, Ake; Solano, Angela; Thomas, Abigail; Parsons, Michael T.; Antoniou, Antonis C.; Leslie, Goska; Yang, Xin; Chenevix-Trench, Georgia; Caldes, Trinidad; Kwong, Ava; Pedersen, Inge Sokilde; Lautrup, Charlotte K.; John, Esther M.; Terry, Mary Beth; Hopper, John L.; Southey, Melissa C.; Andrulis, Irene L.; Tischkowitz, Marc; Janavicius, Ramunas; Boonen, Susanne E.; Kroeldrup, Lone; Varesco, Liliana; Hamann, Ute; Vega, Ana; Palmero, Edenir, I; Garber, Judy; Montagna, Marco; Van Asperen, Christi J.; Foretova, Lenka; Greene, Mark H.; Selkirk, Tina; Moller, Pal; Toland, Amanda E.; Domchek, Susan M.; James, Paul A.; Thorne, Heather; Eccles, Diana M.; Nielsen, Sarah M.; Manoukian, Siranoush; Pasini, Barbara; Caligo, Maria A.; Lazaro, Conxi; Kirk, Judy; Wappenschmidt, Barbara; Spurdle, Amanda B.; Couch, Fergus J.; Schmutzler, Rita; Goldgar, David E.
BRCA1/2 Molecular Assay for Ovarian Cancer Patients: A Survey through Italian Departments of Oncology and Molecular and Genomic Diagnostic Laboratories
DIAGNOSTICS
IF3.3
2019-10-092
OAAI
Capoluongo, Ettore; La Verde, Nicla; Barberis, Massimo; Bella, Maria Angela; Buttitta, Fiamma; Carrera, Paola; Colombo, Nicoletta; Cortesi, Laura; Genuardi, Maurizio; Gion, Massimo; Guarneri, Valentina; Lorusso, Domenica; Marchetti, Antonio; Marchetti, Paolo; Normanno, Nicola; Pasini, Barbara; Pensabene, Matilde; Pignata, Sandro; Radice, Paolo; Ricevuto, Enrico; Sapino, Anna; Tagliaferri, Pierosandro; Tassone, Pierfrancesco; Trevisiol, Chiara; Truini, Mauro; Varesco, Liliana; Russo, Antonio; Gori, Stefania
Recommendations for the implementation of BRCA testing in ovarian cancer patients and their relatives

对卵巢癌患者及其亲属实施BRCA检测的建议

CRITICAL REVIEWS IN ONCOLOGY HEMATOLOGY
IF5.6
2019-08-0150
OAAI
Gori, Stefania; Barberis, Massimo; Bella, Maria Angela; Buttitta, Fiamma; Capoluongo, Ettore; Carrera, Paola; Colombo, Nicoletta; Cortesi, Laura; Genuardi, Maurizio; Gion, Massimo; Guarneri, Valentina; Incorvaia, Lorena; La Verde, Nicla; Lorusso, Domenica; Marchetti, Antonio; Marchetti, Paolo; Norrnanno, Nicola; Pasini, Barbara; Pensabene, Matilde; Pignata, Sandro; Radice, Paolo; Ricevuto, Enrico; Sapino, Anna; Tagliaferri, Pierosandro; Tassone, Pierfrancesco; Trevisiol, Chiara; Truini, Mauro; Varesco, Liliana; Russo, Antonio
The spectrum of BRCA1 and BRCA2 pathogenic sequence variants in Middle Eastern, North African, and South European countries
HUMAN MUTATION
IF3.7
2019-07-2637
OAAI
Laitman, Yael; Friebel, Tara M.; Yannoukakos, Drakoulis; Fostira, Florentia; Konstantopoulou, Irene; Figlioli, Gisella; Bonanni, Bernardo; Manoukian, Siranoush; Zuradelli, Monica; Tondini, Carlo; Pasini, Barbara; Peterlongo, Paolo; Plaseska-Karanfilska, Dijana; Jakimovska, Milena; Majidzadeh, Keivan; Zarinfam, Shiva; Loizidou, Maria A.; Hadjisavvas, Andreas; Michailidou, Kyriaki; Kyriacou, Kyriacos; Behar, Doron M.; Bernstein Molho, Rinat; Ganz, Patricia; James, Paul; Parsons, Michael T.; Sallam, Aminah; Olopade, Olufunmilayo I.; Seth, Arun; Chenevix - Trench, Georgia; Leslie, Goska; McGuffog, Lesley; Marafie, Makia J.; Megarbane, Andre; Al-Mulla, Fahd; Rebbeck, Timothy R.; Friedman, Eitan
Sensitivity to asbestos is increased in patients with mesothelioma and pathogenic germline variants in BAP1 or other DNA repair genes

患有间皮瘤和BAP1或其他DNA修复基因的致病性种系变异的患者对石棉的敏感性增加

GENES CHROMOSOMES & CANCER
IF2.8
2018-10-1947
PREAI
Betti, Marta; Aspesi, Anna; Ferrante, Daniela; Sculco, Marika; Righi, Luisella; Mirabelli, Dario; Napoli, Francesca; Rondon-Lagos, Milena; Casalone, Elisabetta; Lutati, Francesca Vignolo; Ogliara, Paola; Bironzo, Paolo; Gironi, C. Laura; Savoia, Paola; Maffe, Antonella; Ungari, Silvana; Grosso, Federica; Libener, Roberta; Boldorini, Renzo; Valiante, Michele; Pasini, Barbara; Matullo, Giuseppe; Scagliotti, Giorgio; Magnani, Corrado; Dianzani, Irma

研究方向

暂未获取到该数据
P
Paolo Radice
H 指数:91论文数:651被引数:3.8万
S
Siranoush Manoukian
H 指数:67论文数:373被引数:2.6万
M
Marco A. Pierotti
H 指数:99论文数:668被引数:3.6万
G
Georgia Chenevix‐Trench
H 指数:115论文数:997被引数:7.0万
A
Antonis C. Antoniou
H 指数:91论文数:543被引数:4.1万
J
Jan Lubiński
H 指数:128论文数:1,345被引数:8.0万
H
Heli Nevanlinna
H 指数:106论文数:718被引数:5.0万
P
Paolo Peterlongo
H 指数:72论文数:395被引数:2.4万
M
Melissa C. Southey
H 指数:121论文数:1,251被引数:6.7万
E
Esther M. John
H 指数:132论文数:1,525被引数:7.6万