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G

Ginevra Zanni

irccs bambino gesu
H指数:33
被引数:3,354

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Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome
EUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
2024-10-111
OAAI
D'Abrusco, Fulvio; Serpieri, Valentina; Taccagni, Cecilia Maria; Garau, Jessica; Cattaneo, Luca; Boggioni, Monica; Gana, Simone; Battini, Roberta; Bertini, Enrico; Zanni, Ginevra; Boltshauser, Eugen; Borgatti, Renato; Romaniello, Romina; Signorini, Sabrina; Leuzzi, Vincenzo; Caputi, Caterina; Manti, Filippo; D'Arrigo, Stefano; De Laurentiis, Arianna; Graziano, Claudio; Lemke, Johannes R.; Morelli, Federica; Ramadza, Danijela Petkovic; Sirchia, Fabio; Giorgio, Elisa; Valente, Enza Maria
Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy

SNF8中的双等位基因变体引起的疾病谱从严重的发育性和癫痫性脑病到综合征性视神经萎缩

AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2024-03-014
OAAI
Brugger, Melanie; Lauri, Antonella; Zhen, Yan; Gramegna, Laura L.; Zott, Benedikt; Sekulic, Nikolina; Fasano, Giulia; Kopajtich, Robert; Cordeddu, Viviana; Radio, Francesca Clementina; Mancini, Cecilia; Pizzi, Simone; Paradisi, Graziamaria; Zanni, Ginevra; Vasco, Gessica; Carrozzo, Rosalba; Palombo, Flavia; Tonon, Caterina; Lodi, Raffaele; Morgia, Chiara La; Arelin, Maria; Blechschmidt, Cristiane; Finck, Tom; Sorensen, Vigdis; Kreiser, Kornelia; Strobl-Wildemann, Gertrud; Daum, Hagit; Michaelson-Cohen, Rachel; Ziccardi, Lucia; Zampino, Giuseppe; Prokisch, Holger; Jamra, Rami Abou; Fiorini, Claudio; Arzberger, Thomas; Winkelmann, Juliane; Caporali, Leonardo; Carelli, Valerio; Stenmark, Harald; Tartaglia, Marco; Wagner, Matias
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation
NATURE COMMUNICATIONS
IF15.7
2024-02-273
OAAI
Nashabat, Marwan; Nabavizadeh, Nasrinsadat; Saracoglu, Hilal Piril; Saribas, Burak; Avci, Sahin; Borklu, Esra; Beillard, Emmanuel; Yilmaz, Elanur; Uygur, Seyide Ecesu; Kayhan, Cavit Kerem; Bosco, Luca; Eren, Zeynep Bengi; Steindl, Katharina; Richter, Manuela Friederike; Bademci, Guney; Rauch, Anita; Fattahi, Zohreh; Valentino, Maria Lucia; Connolly, Anne M.; Bahr, Angela; Viola, Laura; Bergmann, Anke Katharina; Rocha, Maria Eugenia; Peart, Leshon; Castro-Rojas, Derly Liseth; Bueltmann, Eva; Khan, Suliman; Giarrana, Miriam Liliana; Teleanu, Raluca Ioana; Gonzalez, Joanna Michelle; Pini, Antonella; Schadlich, Ines Sophie; Vill, Katharina; Brugger, Melanie; Zuchner, Stephan; Pinto, Andreia; Donkervoort, Sandra; Bivona, Stephanie Ann; Riza, Anca; Streata, Ioana; Glaeser, Dieter; Baquero-Montoya, Carolina; Garcia-Restrepo, Natalia; Kotzaeridou, Urania; Brunet, Theresa; Epure, Diana Anamaria; Bertoli-Avella, Aida; Kariminejad, Ariana; Tekin, Mustafa; von Hardenberg, Sandra; Boennemann, Carsten G.; Stettner, Georg M.; Zanni, Ginevra; Kayserili, Huelya; Oflazer, Zehra Piraye; Escande-Beillard, Nathalie
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias

非扩张性脊髓小脑共济失调的极端表型异质性

AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2023-07-0116
OAAI
Cunha, Paulina; Petit, Emilien; Coutelier, Marie; Coarelli, Giulia; Mariotti, Caterina; Faber, Jennifer; Van Gaalen, Judith; Damasio, Joana; Fleszar, Zofia; Tosi, Michele; Rocca, Clarissa; De Michele, Giovanna; Minnerop, Martina; Ewenczyk, Claire; Santorelli, Filippo M.; Heinzmann, Anna; Bird, Thomas; Amprosi, Matthias; Indelicato, Elisabetta; Benussi, Alberto; Charles, Perrine; Stendel, Claudia; Romano, Silvia; Scarlato, Marina; Le Ber, Isabelle; Bassi, Maria Teresa; Serrano, Mercedes; Schmitz-Hubsch, Tanja; Doss, Sarah; Van Velzen, Gijs A. J.; Thomas, Quentin; Trabacca, Antonio; Ortigoza-Escobar, Juan Dario; D'Arrigo, Stefano; Timmann, Dagmar; Pantaleoni, Chiara; Martinuzzi, Andrea; Besse-Pinot, Elsa; Marsili, Luca; Cioffi, Ettore; Nicita, Francesco; Giorgetti, Alejandro; Moroni, Isabella; Romaniello, Romina; Casali, Carlo; Ponger, Penina; Casari, Giorgio; De Bot, Susanne T.; Ristori, Giovanni; Blumkin, Lubov; Borroni, Barbara; Goizet, Cyril; Marelli, Cecilia; Boesch, Sylvia; Anheim, Mathieu; Filla, Alessandro; Houlden, Henry; Bertini, Enrico; Klopstock, Thomas; Synofzik, Matthis; Riant, Florence; Zanni, Ginevra; Magri, Stefania; Di Bella, Daniela; Nanetti, Lorenzo; Sequeiros, Jorge; Oliveira, Jorge; Warrenburg, Bart Van de; Schoels, Ludger; Taroni, Franco; Brice, Alexis; Durr, Alexandra
Author Correction: Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects (vol 14, 3403, 2023)

作者更正: SART3中的变体引起以睾丸发育失败和神经元缺陷为特征的剪接病 (第14卷，3403卷，2023)

NATURE COMMUNICATIONS
IF15.7
2023-06-150
OAAI
Ayers, Katie L.; Eggers, Stefanie; Rollo, Ben N.; Smith, Katherine R.; Davidson, Nadia M.; Siddall, Nicole A.; Zhao, Liang; Bowles, Josephine; Weiss, Karin; Zanni, Ginevra; Burglen, Lydie; Ben-Shachar, Shay; Rosensaft, Jenny; Raas-Rothschild, Annick; Jorgensen, Anne; Schittenhelm, Ralf B.; Huang, Cheng; Robevska, Gorjana; van den Bergen, Jocelyn; Casagranda, Franca; Cyza, Justyna; Pachernegg, Svenja; Wright, David K.; Bahlo, Melanie; Oshlack, Alicia; O'Brien, Terrence J.; Kwan, Patrick; Koopman, Peter; Hime, Gary R.; Girard, Nadine; Hoffmann, Chen; Shilon, Yuval; Zung, Amnon; Bertini, Enrico; Milh, Mathieu; Ben Rhouma, Bochra; Belguith, Neila; Bashamboo, Anu; McElreavey, Kenneth; Banne, Ehud; Weintrob, Naomi; BenZeev, Bruria; Sinclair, Andrew H.
Responsiveness of the Scale for the Assessment and Rating of Ataxia and Natural History in 884 Recessive and Early Onset Ataxia Patients
ANNALS OF NEUROLOGY
IF7.7
2023-06-1219
OA
Traschuetz, Andreas D.; Adarmes-Gomez, Astrid; Anheim, Mathieu; Baets, Jonathan; Brais, Bernard; Gagnon, Cynthia; Gburek-Augustat, Janina; Doss, Sarah; Hanagasi, Hasmet A.; Kamm, Christoph; Klivenyi, Peter; Klockgether, Thomas; Klopstock, Thomas; Minnerop, Martina; Muenchau, Alexander; Renaud, Mathilde M.; Santorelli, Filippo; Schoels, Ludger; Thieme, Andreas; Vielhaber, Stefan P.; van de Warrenburg, Bart; Zanni, Ginevra; Hilgers, Ralf-Dieter; Synofzik, Matthis
Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects

SART3的变异引起以睾丸发育失败和神经元缺陷为特征的剪接病

NATURE COMMUNICATIONS
IF15.7
2023-06-096
OAAI
Ayers, Katie L.; Eggers, Stefanie; Rollo, Ben N.; Smith, Katherine R.; Davidson, Nadia M.; Siddall, Nicole A.; Zhao, Liang; Bowles, Josephine; Weiss, Karin; Zanni, Ginevra; Burglen, Lydie; Ben-Shachar, Shay; Rosensaft, Jenny; Raas-Rothschild, Annick; Jorgensen, Anne; Schittenhelm, Ralf B.; Huang, Cheng; Robevska, Gorjana; van den Bergen, Jocelyn; Casagranda, Franca; Cyza, Justyna; Pachernegg, Svenja; Wright, David K.; Bahlo, Melanie; Oshlack, Alicia; O'Brien, Terrence J.; Kwan, Patrick; Koopman, Peter; Hime, Gary R.; Girard, Nadine; Hoffmann, Chen; Shilon, Yuval; Zung, Amnon; Bertini, Enrico; Milh, Mathieu; Ben Rhouma, Bochra; Belguith, Neila; Bashamboo, Anu; MacElreavey, Kenneth; Banne, Ehud; Weintrob, Naomi; BenZeev, Bruria; Sinclair, Andrew H.
Autosomal Recessive Cerebellar Ataxias in Europe: Frequency, Onset, and Severity in 677 Patients
MOVEMENT DISORDERS
IF7.6
2023-04-078
OA
Traschuetz, Andreas; Adarmes-Gomez, Astrid D.; Anheim, Mathieu; Baets, Jonathan; Falkenburger, Bjoern H.; Gburek-Augustat, Janina; Doss, Sarah; Kamm, Christoph; Klivenyi, Peter; Grobe-Einsler, Marcus; Klopstock, Thomas; Minnerop, Martina; Munchau, Alexander; Pane, Chiara; Renaud, Mathilde; Santorelli, Filippo M.; Schoels, Ludger; Timmann, Dagmar; Vielhaber, Stefan; Haack, Tobias B.; van de Warrenburg, Bart P.; Zanni, Ginevra; Synofzik, Matthis
The ataxia-linked E1081Q mutation affects the sub-plasma membrane Ca2+-microdomains by tuning PMCA3 activity
CELL DEATH & DISEASE
IF9.6
2022-10-071
OAAI
Vallese, Francesca; Maso, Lorenzo; Giamogante, Flavia; Poggio, Elena; Barazzuol, Lucia; Salmaso, Andrea; Lopreiato, Raffaele; Cendron, Laura; Navazio, Lorella; Zanni, Ginevra; Weber, Yvonne; Kovacevic-Preradovic, Tatjana; Keren, Boris; Torraco, Alessandra; Carrozzo, Rosalba; Peretto, Francesco; Peggion, Caterina; Ferro, Stefania; Marin, Oriano; Zanotti, Giuseppe; Cali, Tito; Brini, Marisa; Carafoli, Ernesto
De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia
MOVEMENT DISORDERS
IF7.6
2022-02-1211
OA
Van de Vondel, Liedewei; De Winter, Jonathan; Beijer, Danique; Coarelli, Giulia; Wayand, Melanie; Palvadeau, Robin; Pauly, Martje G.; Klein, Katrin; Rautenberg, Maren; Guillot-Noel, Lena; Deconinck, Tine; Vural, Atay; Ertan, Sibel; Dogu, Okan; Uysal, Hilmi; Brankovic, Vesna; Herzog, Rebecca; Brice, Alexis; Durr, Alexandra; Klebe, Stephan; Stock, Friedrich; Bischoff, Almut Turid; Rattay, Tim W.; Sobrido, Maria-Jesus; De Michele, Giovanna; De Jonghe, Peter; Klopstock, Thomas; Lohmann, Katja; Zanni, Ginevra; Santorelli, Filippo M.; Timmerman, Vincent; Haack, Tobias B.; Zuchner, Stephan; Schuele, Rebecca; Stevanin, Giovanni; Synofzik, Matthis; Basak, A. Nazli; Baets, Jonathan
Expanding the Phenotypic Spectrum of GPI Anchoring Deficiency Due to Biallelic Variants in GPAA1
NEUROLOGY-GENETICS
IF3.7
2021-12-015
OAAI
Castle, Alison M. R.; Salian, Smrithi; Bassan, Haim; Sofrin-Drucker, Efrat; Cusmai, Raffaella; Herman, Kristin C.; Heron, Delphine; Keren, Boris; Johnstone, Devon L.; Mears, Wendy; Morlot, Susanne; Nguyen, Thi Tuyet Mai; Rock, Rachel; Stolerman, Elliot; Russo, Julia; Burns, William Boyce; Jones, Julie R.; Serpieri, Valentina; Wallaschek, Hannah; Zanni, Ginevra; Dyment, David A.; Campeau, Philippe M.
Clinical variability at the mild end of BRAT1-related spectrum: Evidence from two families with genotype-phenotype discordance
HUMAN MUTATION
IF3.7
2021-11-1512
OAAI
Nuovo, Sara; Baglioni, Valentina; De Mori, Roberta; Tardivo, Silvia; Caputi, Caterina; Ginevrino, Monia; Micalizzi, Alessia; Masuelli, Laura; Federici, Giulia; Casella, Antonella; Lorefice, Elisa; Anello, Danila; Tolve, Manuela; Farini, Donatella; Bertini, Enrico; Zanni, Ginevra; Travaglini, Lorena; Vasco, Gessica; Sette, Claudio; Carducci, Carla; Valente, Enza M.; Leuzzi, Vincenzo
SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum
JOURNAL OF MEDICAL GENETICS
IF3.7
2021-10-2123
OAAI
Serpieri, Valentina; D'Abrusco, Fulvio; Dempsey, Jennifer C.; Cheng, Yong-Han Hank; Arrigoni, Filippo; Baker, Janice; Battini, Roberta; Bertini, Enrico Silvio; Borgatti, Renato; Christman, Angela K.; Curry, Cynthia; D'Arrigo, Stefano; Fluss, Joel; Freilinger, Michael; Gana, Simone; Ishak, Gisele E.; Leuzzi, Vincenzo; Loucks, Hailey; Manti, Filippo; Mendelsohn, Nancy; Merlini, Laura; Miller, Caitlin, V; Muhammad, Ansar; Nuovo, Sara; Romaniello, Romina; Schmidt, Wolfgang; Signorini, Sabrina; Siliquini, Sabrina; Szczaluba, Krzysztof; Vasco, Gessica; Wilson, Meredith; Zanni, Ginevra; Boltshauser, Eugen; Doherty, Dan; Valente, Enza Maria

研究方向

暂未获取到该数据
E
Enrico Bertini
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Filippo M. Santorelli
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S
Sabina Barresi
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Romina Romaniello
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E
Enza Maria Valente
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S
Stefano D’Arrigo
H 指数:36论文数:181被引数:5,607
R
Renato Borgatti
H 指数:53论文数:494被引数:9,762
M
Marco Tartaglia
H 指数:78论文数:684被引数:2.6万
L
Lorena Travaglini
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G
Gessica Vasco
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