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

Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification

基因门户:将临床、功能和结构证据整合到罕见病变异分类中的框架

Brünger, Tobias; Krey, Ilona; Kim, Suyeon; Klöckner, Chiara; Myers, Scott J; Johannesen, Katrine M; Stefanski, Arthur; Taylor, Gary; Perez-Palma, Eduardo; Macnee, Marie; Schorge, Stephanie; Dahl, Rebekka S; Yuan, Hongjie; Perszyk, Riley E; Kim, Sukhan; Bajaj, Sunanjay; Helbig, Ingo; Pan, Jen Q; Farrant, Mark; Wollmuth, Lonnie; Wyllie, David J A; Kurganov, Erkin; Baez, David; Zuberi, Sameer; Boßelmann, Christian M; Lerche, Holger; Mantegazza, Massimo; Cestèle, Sandrine; May, Patrick; Ivaniuk, Alina; Meskis, Mary Anne; Hood, Veronica; Schust, Leah; Goodspeed, Kimberly; Kang, Jing-Qiong; Freed, Amber; Gati, Cornelius; Montanucci, Ludovica; Wuster, Arthur; Trinidad, Marena; Froelich, Steven; Deng, Alexander T; Serrano, Ángel Aledo; Borovikov, Artem; Sharkov, Artem; Bouman, Arjan; Hajianpour, M J; Pal, Deb K; Danvoye, Leslie; Lederer, Damien; Balci, Tugce R; Hagebeuk, Eveline E O; Heidlebaugh, Alexis; Oetjens, Kathryn; Hoffman, Trevor L; Striano, Pasquale; Williams, Sarah Drewes; van Engelen, Kalene; Howell, Katherine B; Khoury, Jean; Benke, Tim A; Strehlow, Vincent; Platzer, Konrad; Ramsey, Amy; Manaster, Lisa; Malepati, Sunitha; Fox, Pangkong; Noebels, Jeffrey; Chung, Wendy; Poduri, Annapurna; Stripe, Laina Lusk; Ruggiero, Sarah M; Cohen, Stacey; Smith, Lacey; Boesch, Sylvia; Wilmarth, Olivia; Prentice, Anna Jenne; Cha, Esther; Budnik, Nikita; Hommersom, Marina P; Kramer, Audra; Vanoye, Carlos G; Zhang, Guo-Qiang; Nothnagel, Michael; Palotie, Aarno; Daly, Mark J; George, Alfred L Jr; Zarate, Yuri A; Brunklaus, Andreas; Traynelis, Stephen F; Møller, Rikke S; Lemke, Johannes R; Lal, Dennis

Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes

保守的错义变异致病性和旁系同源基因的相关表型

Brünger, Tobias; Ivaniuk, Alina; Pérez-Palma, Eduardo; Montanucci, Ludovica; Cohen, Stacey; Smith, Lacey; Parthasarathy, Shridhar; Helbig, Ingo; Nothnagel, Michael; May, Patrick; Lal, Dennis

CYP1B1 Knockout in a Bovine Hepatocyte-like Cell Line (BFH12) Unveils Its Role in Liver Homeostasis and Aflatoxin B1-Induced Hepatotoxicity

牛肝细胞样细胞系(BFH12)中CYP1B1基因敲除揭示其在肝脏稳态和黄曲霉毒素B1诱导的肝毒性中的作用

Iori, Silvia; Montanucci, Ludovica; D'Onofrio, Caterina; Lahtela-Kakkonen, Maija; Lucatello, Lorena; Bardhi, Anisa; Barbarossa, Andrea; Capolongo, Francesca; Zaghini, Anna; Pauletto, Marianna; Dacasto, Mauro; Giantin, Mery

Ligand distances as key predictors of pathogenicity and function in NMDA receptors

配体距离是NMDA受体致病性和功能的关键预测因子

Montanucci, Ludovica; Brünger, Tobias; Bhattarai, Nisha; Boßelmann, Christian M; Kim, Sukhan; Allen, James P; Zhang, Jing; Klöckner, Chiara; Krey, Ilona; Fariselli, Piero; May, Patrick; Lemke, Johannes R; Myers, Scott J; Yuan, Hongjie; Traynelis, Stephen F; Lal, Dennis

Simulation of a field condition to evaluate the risk of enrofloxacin-resistant Pasteurella multocida strain selection in food producing rabbits treated via drinking water

模拟田间条件以评估通过饮用水治疗的食用兔中产生恩诺沙星耐药性多杀性巴氏杆菌菌株的风险

Circella, Elena; Lucatello, Lorena; Montanucci, Ludovica; Belloli, Chiara; Capolongo, Francesca

Expression Profile of Twelve Transcripts as a Supporting Tool for the Molecular Characterization of Canine Cutaneous Mast Cell Tumors at Diagnosis: Association with Histological Grading and Clinical Staging

十二种转录本的表达谱作为犬皮肤肥大细胞瘤诊断时分子特征分析的辅助工具:与组织学分级和临床分期的关联

Giantin, Mery; Montanucci, Ludovica; Lopparelli, Rosa Maria; Tolosi, Roberta; Dentini, Alfredo; Grieco, Valeria; Stefanello, Damiano; Sabattini, Silvia; Marconato, Laura; Pauletto, Marianna; Dacasto, Mauro

Genome-wide association study of copy number variations in Parkinson's disease

帕金森病拷贝数变异的全基因组关联研究

Landoulsi, Zied; Sreelatha, Ashwin Ashok Kumar; Kuznetsov, Nicole; Schulte, Claudia; Bobbili, Dheeraj Reddy; Montanucci, Ludovica; Leu, Costin; Niestroj, Lisa-Marie; Hassanin, Emadeldin; Domenighetti, Cloé; Sugier, Pierre-Emmanuel; Radivojkov-Blagojevic, Milena; Lichtner, Peter; Portugal, Berta; Edsall, Connor; Kru Ger, Jens; Hernandez, Dena G; Blauwendraat, Cornelis; Mellick, George D; Zimprich, Alexander; Pirker, Walter; Tan, Manuela; Rogaeva, Ekaterina; Lang, Anthony; Koks, Sulev; Taba, Pille; Lesage, Suzanne; Brice, Alexis; Corvol, Jean-Christophe; Chartier-Harlin, Marie-Christine; Mutez, Eugenie; Brockmann, Kathrin; Deutschländer, Angela B; Hadjigeorgiou, Georges M; Dardiotis, Efthimos; Stefanis, Leonidas; Simitsi, Athina Maria; Valente, Enza Maria; Petrucci, Simona; Straniero, Letizia; Zecchinelli, Anna; Pezzoli, Gianni; Brighina, Laura; Ferrarese, Carlo; Annesi, Grazia; Quattrone, Andrea; Gagliardi, Monica; Burbulla, Lena F; Matsuo, Hirotaka; Nakayama, Akiyoshi; Hattori, Nobutaka; Nishioka, Kenya; Chung, Sun Ju; Kim, Yun Joong; Pavelka, Lukas; Kolber, Pierre; van de Warrenburg, Bart Pc; Bloem, Bastiaan R; Singleton, Andrew B; Vitale, Dan; Toft, Mathias; Pihlstrom, Lasse; Guedes, Leonor Correia; Ferreira, Joaquim J; Bardien, Soraya; Carr, Jonathan; Tolosa, Eduardo; Ezquerra, Mario; Pastor, Pau; Wirdefeldt, Karin; Pedersen, Nancy L; Ran, Caroline; Belin, Andrea C; Puschmann, Andreas; Clarke, Carl E; Morrison, Karen E; Krainc, Dimitri; Farrer, Matt J; Lal, Dennis; Elbaz, Alexis; Gasser, Thomas; Krüger, Rejko; Sharma, Manu; May, Patrick

Evaluating novel in silico tools for accurate pathogenicity classification in epilepsy-associated genetic missense variants

评估新型计算机模拟工具在癫痫相关基因错义变异致病性分类中的准确性

Montanucci, Ludovica; Brünger, Tobias; Boßelmann, Christian M; Ivaniuk, Alina; Pérez-Palma, Eduardo; Lhatoo, Samden; Leu, Costin; Lal, Dennis

Impact of Missense Mutations on AFB1 Metabolism in Bovine Cytochrome P4503A Isoforms: A Computational Mutagenesis and Molecular Docking Analysis

错义突变对牛细胞色素P4503A同工酶中黄曲霉毒素B1代谢的影响:计算诱变和分子对接分析

Montanucci, Ludovica; Iori, Silvia; Lahtela-Kakkonen, Maija; Pauletto, Marianna; Giantin, Mery; Dacasto, Mauro

A Whole-Transcriptomic Analysis of Canine Oral Melanoma: A Chance to Disclose the Radiotherapy Effect and Outcome-Associated Gene Signature

犬口腔黑色素瘤的全转录组分析:揭示放射治疗效果和预后相关基因特征的机会

Mucignat, Greta; Montanucci, Ludovica; Elgendy, Ramy; Giantin, Mery; Laganga, Paola; Pauletto, Marianna; Mutinelli, Franco; Vascellari, Marta; Leone, Vito Ferdinando; Dacasto, Mauro; Granato, Anna