日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

A novel spliceosomopathy caused by de novo SF3B3 variants.

一种由新生SF3B3变异引起的新型剪接体病。

Musante Luciana, Janos Pavel, Pianigiani Giulia, Cappelli Sara, Longo Alessandra, Alves Carolina, Schwaibold Eva Mc, Wagner Matias, Costain Gregory, Fridriksdottir Run, Stefansson Kari, Sulem Patrick, Lichtenbelt Klaske D, van Binsbergen Ellen, van Jaarsveld Richard H, Brusco Alfredo, Pavinato Lisa, Biamino Elisa, Spano Alessandra, Hildebrandt Clara C, Chan Yee-Ming, Groopman Emily, Berkenstadt Michal, Koboldt Daniel, Williamson Rachel, Brunner Han G, Vissers Lisenka Elm, Torring Pernille M, Hao Qin, Gelb Bruce D, Goldmuntz Elizabeth, Reed Kristen, Bedoukian Emma C, Vecchio Davide, Salzano Emanuela, Piccione Maria, Zanus Caterina, Mio Catia, Eichler Evan E, Wang Tianyun, Patterson Wesley G, Butler Kameryn M, Piotrowski Mattie, Mercier Sandra, Cogné Benjamin, Wentzensen Ingrid M, Buratti Emanuele, Magistrato Alessandra, Faletra Flavio

A Systems Biology Approach for Prioritizing ASD Genes in Large or Noisy Datasets

利用系统生物学方法对大型或噪声数据集中的自闭症谱系障碍基因进行优先级排序

Remori, Veronica; Bondi, Heather; Airoldi, Manuel; Pavinato, Lisa; Borini, Giulia; Carli, Diana; Brusco, Alfredo; Fasano, Mauro

RICTOR variants are associated with neurodevelopmental disorders

RICTOR基因变异与神经发育障碍相关

Carapito, Raphael; Molitor, Anne; Pavinato, Lisa; Skeyni, Alaa; Lambert, Magalie; Pichot, Angélique; Jiang, Jiuhong; Spinnhirny, Perrine; Zimmermann, Lucie; Boucher, Philippe; Chung, Clara W T; Elserafy, Noha; Blair, Edward M; Li, Dong; Elisabeth, Bhoj; Kotzaeridou, Urania; Karch, Stephanie; Wagner, Matias; Lunsing, Roelineke J; Pfundt, Rolph; Boycott, Kym M; Bruel, Ange-Line; Mau-Them, Frédéric Tran; Moutton, Sébastien; Conti, Valerio; Mei, Davide; Cetica, Valentina; Guerrini, Renzo; Brunet, Theresa; Rump, Patrick; Mussa, Alessandro; Brusco, Alfredo; Lemire, Gabrielle; de Vries, Bert B A; Miao, Zhichao; Isidor, Bertrand; Bahram, Seiamak

Skipping of Exon 20 in EP300: A Novel Variant Linked to Rubinstein-Taybi Syndrome With Atypical and Severe Clinical Manifestations

EP300基因第20外显子跳跃:一种与鲁宾斯坦-泰比综合征相关的新型变异,具有非典型和严重的临床表现

Pavinato, Lisa; Carestiato, Silvia; Trajkova, Slavica; Sorasio, Lorena; Mantovani, Giovanna; De Sanctis, Luisa; Kerkhof, Jennifer; McConkey, Haley; Rzasa, Jessica; Todd, Emily; Balzo, Maria; Cardaropoli, Simona; Bruselles, Alessandro; De Rubeis, Silvia; Buxbaum, Joseph D; Tartaglia, Marco; Sadikovic, Bekim; Ferrero, Giovanni Battista; Brusco, Alfredo

Characterization of CTNND2-related neurodevelopmental disease, phenotype-genotype spectrum and WNT dynamics in early neurogenesis

CTNND2相关神经发育疾病的特征、表型-基因型谱以及早期神经发生过程中WNT信号通路的动态变化

Shahsavani, Mansoureh; Wincent, Josephine; Reiter, Ricarda; Soltysova, Andrea; Schuy, Jakob; Helgadottir, Hafdis T; Eisfeldt, Jesper; Ek, Marlene; Ficek, Andrej; Druschke, Lotta; Kusikova, Katarina; Hsieh, Tzung-Chien; Krichhoff, Aron; Krawitz, Peter; Li, Jing-Mei; Webersinke, Gerald; Gorokhova, Svetlana; Missirian, Chantal; Riccardi, Florence; Pavinato, Lisa; Brusco, Alfredo; Mandrile, Giorgia; Trajkova, Slavica; Pintus, Francesco; Gagachovska, Biljana; Waisfisz, Quinten; van Hagen, Annet; Bedoukian, Emma; Izumi, Kosuke; Granger, Leslie; Petersen, Andrea; Oegema, Renske; Huibers, Manon; Demurger, Florence; Brischoux-Boucher, Elise; Julia, Sophie; Banneau, Guillaume; Zavala, M Jesus; Lagos, Catalina; Repetto, Gabriela M; Jouret, Guillaume; Kentros, Catherine; Ganapathi, Mythily; Chung, Wendy K; May, Halie; Hiatt, Susan M; Kelley, Whitley V; Förster, Alisa; Olfe, Lisa; Shillington, Amelle; Dauriat, Benjamin; Mercier, Sandra; Cogné, Benjamin; Engel, Camille; Dahlen, Eric; Rosenberger, Georg; Sauvigny, Thomas; Abdallah, Hamza Hadj; Courtin, Thomas; Stray-Pedersen, Asbjørg; Bernat, John A; Paolillo, Vitoria K; Viso, Florencia Del; Alaimo, Joseph T; Thiffault, Isabelle; Farrow, Emily G; Cohen, Ana S A; Weis, Serge; Duba, Hans-Christoph; Nordgren, Ann; Falk, Anna; Weis, Denisa; Lindstrand, Anna

Identification of the DNA methylation signature of Mowat-Wilson syndrome

莫瓦特-威尔逊综合征DNA甲基化特征的鉴定

Caraffi, Stefano Giuseppe; van der Laan, Liselot; Rooney, Kathleen; Trajkova, Slavica; Zuntini, Roberta; Relator, Raissa; Haghshenas, Sadegheh; Levy, Michael A; Baldo, Chiara; Mandrile, Giorgia; Lauzon, Carolyn; Cordelli, Duccio Maria; Ivanovski, Ivan; Fetta, Anna; Sukarova, Elena; Brusco, Alfredo; Pavinato, Lisa; Pullano, Verdiana; Zollino, Marcella; McConkey, Haley; Tartaglia, Marco; Ferrero, Giovanni Battista; Sadikovic, Bekim; Garavelli, Livia

DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity

对神经发育障碍患者进行DNA甲基化分析,可以提高变异解读的准确性并揭示其复杂性。

Trajkova, Slavica; Kerkhof, Jennifer; Rossi Sebastiano, Matteo; 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

Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes.

未解决的神经发育疾病病例中 X 染色体失活偏倚可指导对 X 连锁基因的重新评估

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

Rare coding variation provides insight into the genetic architecture and phenotypic context of autism

罕见的编码变异有助于深入了解自闭症的遗传结构和表型背景。

Fu, Jack M; Satterstrom, F Kyle; Peng, Minshi; Brand, Harrison; Collins, Ryan L; Dong, Shan; Wamsley, Brie; Klei, Lambertus; Wang, Lily; Hao, Stephanie P; Stevens, Christine R; Cusick, Caroline; Babadi, Mehrtash; Banks, Eric; Collins, Brett; Dodge, Sheila; Gabriel, Stacey B; Gauthier, Laura; Lee, Samuel K; Liang, Lindsay; Ljungdahl, Alicia; Mahjani, Behrang; Sloofman, Laura; Smirnov, Andrey N; Barbosa, Mafalda; Betancur, Catalina; Brusco, Alfredo; Chung, Brian H Y; Cook, Edwin H; Cuccaro, Michael L; Domenici, Enrico; Ferrero, Giovanni Battista; Gargus, J Jay; Herman, Gail E; Hertz-Picciotto, Irva; Maciel, Patricia; Manoach, Dara S; Passos-Bueno, Maria Rita; Persico, Antonio M; Renieri, Alessandra; Sutcliffe, James S; Tassone, Flora; Trabetti, Elisabetta; Campos, Gabriele; Cardaropoli, Simona; Carli, Diana; Chan, Marcus C Y; Fallerini, Chiara; Giorgio, Elisa; Girardi, Ana Cristina; Hansen-Kiss, Emily; Lee, So Lun; Lintas, Carla; Ludena, Yunin; Nguyen, Rachel; Pavinato, Lisa; Pericak-Vance, Margaret; Pessah, Isaac N; Schmidt, Rebecca J; Smith, Moyra; Costa, Claudia I S; Trajkova, Slavica; Wang, Jaqueline Y T; Yu, Mullin H C; Cutler, David J; De Rubeis, Silvia; Buxbaum, Joseph D; Daly, Mark J; Devlin, Bernie; Roeder, Kathryn; Sanders, Stephan J; Talkowski, Michael E

The Emerging Roles of Long Non-Coding RNAs in Intellectual Disability and Related Neurodevelopmental Disorders

长链非编码RNA在智力障碍及相关神经发育障碍中的新兴作用

Liaci, Carla; Prandi, Lucia; Pavinato, Lisa; Brusco, Alfredo; Maldotti, Mara; Molineris, Ivan; Oliviero, Salvatore; Merlo, Giorgio R