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

Interpreting the functional impact of genetic variants: The need for context qualifiers

解读基因变异的功能影响:需要上下文限定词

Martinelli, Simone; Cavé, Hélène; De Luca, Alessandro; DiStefano, Marina; Karchin, Rachel; Lugones, Ana Clara; O'Donnell-Luria, Anne; Ritter, Deborah I; Tamborero, David; Tolstorukov, Michael Y; Campregher, Paulo Vidal; Tartaglia, Marco; Sonkin, Dmitriy

Genotype-phenotype correlations with autism spectrum disorder-related traits in noonan syndrome and noonan syndrome with multiple lentigines: a cross-sectional study

努南综合征和伴有多发性雀斑的努南综合征中基因型-表型与自闭症谱系障碍相关性的横断面研究

McGhee, Chloe Alexa; Plank, Julia R; Pannone, Luca; Russo, Odeya; Fuhrmann, Naomi; Ruggeri, Aurora; Radio, Francesca Clementina; Martinelli, Simone; Tartaglia, Marco; Green, Tamar

Bridging the educational gaps of health professionals in oncogenomics: results from a pilot e-learning course

弥合卫生专业人员在肿瘤基因组学方面的教育差距:一项试点在线学习课程的结果

Stellacci, Emilia; Martinelli, Simone; Carbone, Pietro; Demuru, Elena; Genuardi, Maurizio; Ghiorzo, Paola; Novelli, Giuseppe; Di Pucchio, Alessandra; Regini, Federica Maria; Guerrera, Debora; Vittozzi, Andrea; Barbina, Donatella; Venanzi, Serenella; van den Bulcke, Marc; Boccia, Stefania; Mazzaccara, Alfonso; De Nicolo, Arcangela; De Angelis, Roberta

Reply to: Partially Levodopa-Responsive Parkinsonism in a Carrier of a Novel Pathogenic CLTC Variant

回复:携带新型致病性 CLTC 变异体的患者出现对左旋多巴部分有效的帕金森病

Nardecchia, Francesca; Martinelli, Simone; Pollini, Luca; Leuzzi, Vincenzo

Immunological and hematological findings as major features in a patient with a new germline pathogenic CBL variant.

免疫学和血液学发现是具有新的生殖系致病性 CBL 变异的患者的主要特征

Stellacci Emilia, Carter Jennefer N, Pannone Luca, Stevenson David, Moslehi Dorsa, Venanzi Serenella, Bernstein Jonathan A, Tartaglia Marco, Martinelli Simone

Improvement of Movement Disorder and Neurodevelopment under Selegiline in a CLTC-Deficient Patient

司来吉兰治疗CLTC缺乏症患者的运动障碍和神经发育改善

Nardecchia, Francesca; Bove, Rossella; Pollini, Luca; Giannini, Maria Teresa; Manti, Filippo; De Giorgi, Agnese; Papoff, Paola; Martinelli, Simone; Leuzzi, Vincenzo

De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus

新生DHDDS变异会导致伴有肌阵挛的神经发育和神经退行性疾病

Galosi, Serena; Edani, Ban H; Martinelli, Simone; Hansikova, Hana; Eklund, Erik A; Caputi, Caterina; Masuelli, Laura; Corsten-Janssen, Nicole; Srour, Myriam; Oegema, Renske; Bosch, Daniëlle G M; Ellis, Colin A; Amlie-Wolf, Louise; Accogli, Andrea; Atallah, Isis; Averdunk, Luisa; Barañano, Kristin W; Bei, Roberto; Bagnasco, Irene; Brusco, Alfredo; Demarest, Scott; Alaix, Anne-Sophie; Di Bonaventura, Carlo; Distelmaier, Felix; Elmslie, Frances; Gan-Or, Ziv; Good, Jean-Marc; Gripp, Karen; Kamsteeg, Erik-Jan; Macnamara, Ellen; Marcelis, Carlo; Mercier, Noëlle; Peeden, Joseph; Pizzi, Simone; Pannone, Luca; Shinawi, Marwan; Toro, Camilo; Verbeek, Nienke E; Venkateswaran, Sunita; Wheeler, Patricia G; Zdrazilova, Lucie; Zhang, Rong; Zorzi, Giovanna; Guerrini, Renzo; Sessa, William C; Lefeber, Dirk J; Tartaglia, Marco; Hamdan, Fadi F; Grabińska, Kariona A; Leuzzi, Vincenzo

A new laser device for ultra-rapid and sustainable aerosol sterilization

一种用于超快速和可持续气溶胶灭菌的新型激光装置

Roman Vuerich, Valentina Martinelli, Simone Vodret, Iris Bertani, Tea Carletti, Lorena Zentilin, Vittorio Venturi, Alessandro Marcello, Serena Zacchigna

"Atypical" Krabbe disease in two siblings harboring biallelic GALC mutations including a deep intronic variant

两名携带双等位基因 GALC 突变(包括一个深内含子变异)的兄弟姐妹患有“非典型”克拉伯病

Nicita, Francesco; Stregapede, Fabrizia; Deodato, Federica; Pizzi, Simone; Martinelli, Simone; Pagliara, Daria; Aiello, Chiara; Cumbo, Francesca; Piemonte, Fiorella; D'Amico, Jessica; Pro, Stefano; Longo, Daniela; Genovese, Silvia; Tartaglia, Marco; Escolar, Maria L; Bertini, Enrico; Travaglini, Lorena

Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis

对TLK2变体及其近端相互作用组的功能分析表明,激酶活性受损和染色质维持缺陷与其致病机制有关。

Pavinato, Lisa; Villamor-Payà, Marina; Sanchiz-Calvo, Maria; Andreoli, Cristina; Gay, Marina; Vilaseca, Marta; Arauz-Garofalo, Gianluca; Ciolfi, Andrea; Bruselles, Alessandro; Pippucci, Tommaso; Prota, Valentina; Carli, Diana; Giorgio, Elisa; Radio, Francesca Clementina; Antona, Vincenzo; Giuffrè, Mario; Ranguin, Kara; Colson, Cindy; De Rubeis, Silvia; Dimartino, Paola; Buxbaum, Joseph D; Ferrero, Giovanni Battista; Tartaglia, Marco; Martinelli, Simone; Stracker, Travis H; Brusco, Alfredo