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

GA4GH phenopacket-driven characterization of genotype-phenotype correlations in Mendelian disorders

GA4GH表型包驱动的孟德尔遗传病基因型-表型相关性表征

Rekerle, Lauren; Danis, Daniel; Rehburg, Filip; Graefe, Adam S L; Bily, Viktor; Caballero-Oteyza, Andrés; Cacheiro, Pilar; Chimirri, Leonardo; Chong, Jessica X; Connelly, Evan; de Vries, Bert B A; Dingemans, Alexander J M; Duyzend, Michael H; Freiberger, Tomas; Gehle, Petra; Groza, Tudor; Hansen, Peter; Jacobsen, Julius O B; Klocperk, Adam; Ladewig, Markus S; Love, Michael I; Marcello, Allison J; Mordhorst, Alexander; Munoz-Torres, Monica C; Reese, Justin; Schuetz, Catharina; Smedley, Damian; Strauss, Timmy; Vladyka, Ondrej; Zocche, David; Thun, Sylvia; Mungall, Christopher J; Haendel, Melissa A; Robinson, Peter N

Functional characterization of pathogenic SATB2 missense variants identifies distinct effects on chromatin binding and transcriptional activity

对致病性SATB2错义变异体的功能表征揭示了其对染色质结合和转录活性的不同影响

den Hoed, Joery; Semmekrot, Fleur; Verseput, Jolijn; Dingemans, Alexander J M; Schijven, Dick; Francks, Clyde; Zarate, Yuri A; Fisher, Simon E

Pulmonary Malignancies in Adults With Congenital Lung Malformations: A Scoping Review

成人先天性肺畸形合并肺部恶性肿瘤:范围综述

Dossche, Louis W J R; Heuff, M H T; Heijne den Bak, A M; Dingemans, A C; Kamphuis, L S; Schnater, J Marco

Experienced financial toxicity among long-term cancer survivors: results from a national cross-sectional survey

长期癌症幸存者所经历的经济毒性:一项全国横断面调查的结果

Klok, Jente M; Duijts, Saskia F A; Engelen, Vivian; Masselink, Roel; Dingemans, Anne-Marie C; Aerts, Joachim G J V; Lingsma, Hester F; van Klaveren, David

SETBP1 variants outside the degron disrupt DNA-binding, transcription and neuronal differentiation capacity to cause a heterogeneous neurodevelopmental disorder

SETBP1基因降解子以外的变异会破坏其DNA结合、转录和神经元分化能力,从而导致异质性神经发育障碍。

Wong, Maggie M K; Kampen, Rosalie A; Braden, Ruth O; Alagöz, Gökberk; Hildebrand, Michael S; Dingemans, Alexander J M; Corbally, Jean; den Hoed, Joery; Mendoza, Ezequiel; Claassen, Willemijn J J; Barnett, Christopher; Barnett, Meghan; Brusco, Alfredo; Carli, Diana; de Vries, Bert B A; Elmslie, Frances; Ferrero, Giovanni Battista; Jansen, Nadieh A; van de Laar, Ingrid M B H; Moroni, Alice; Mowat, David; Murray, Lucinda; Novara, Francesca; Peron, Angela; Scheffer, Ingrid E; Sirchia, Fabio; Turner, Samantha J; Vignoli, Aglaia; Vino, Arianna; Weber, Sacha; Chung, Wendy K; Gerard, Marion; López-González, Vanesa; Palmer, Elizabeth; Morgan, Angela T; van Bon, Bregje W; Fisher, Simon E

Consistent performance of large language models in rare disease diagnosis across ten languages and 4917 cases

大型语言模型在十种语言和 4917 个病例的罕见病诊断中表现出一致的性能

Chimirri, Leonardo; Caufield, J Harry; Bridges, Yasemin; Matentzoglu, Nicolas; Gargano, Michael; Cazalla, Mario; Chen, Shihan; Danis, Daniel; Dingemans, Alexander J M; Gehle, Klara; Gehle, Petra; Graefe, Adam S L; Gu, Weihong; Ladewig, Markus S; Lapunzina, Pablo; Nevado, Julián; Niyonkuru, Enock; Ogishima, Soichi; Seelow, Dominik; Tenorio Castaño, Jair A; Turnovec, Marek; de Vries, Bert B A; Wang, Kai; Wissink, Kyran; Yüksel, Zafer; Zucca, Gabriele; Haendel, Melissa A; Mungall, Christopher J; Reese, Justin; Robinson, Peter N

Transformer-based AI approach to unravel long-term, time-dependent prognostic complexity in patients with advanced NSCLC and PD-L1 ≥50%: insights from the pembrolizumab 5-year global registry

基于Transformer的AI方法揭示晚期非小细胞肺癌(NSCLC)且PD-L1表达≥50%患者的长期、时间依赖性预后复杂性:来自帕博利珠单抗5年全球注册研究的启示

Cortellini, Alessio; Santo, Valentina; Brunetti, Leonardo; Garbo, Edoardo; Pinato, David J; La Cava, Giulia; Naidoo, Jarushka; Katz, Artur; Loza, Monica; Neal, Joel W; Genova, Carlo; Gettinger, Scott; Kim, So Yeon; Jayakrishnan, Ritujith; El Zarif, Talal; Russano, Marco; Pecci, Federica; Di Federico, Alessandro; Alessi, Joao V; Montrone, Michele; Owen, Dwight H; Ramella, Sara; Signorelli, Diego; Fidler, Mary Jo; Li, Mingjia; Camerini, Andrea; Halmos, Balazs; Vincenzi, Bruno; Metro, Giulio; Passiglia, Francesco; Yendamuri, Sai; Guida, Annalisa; Ghidini, Michele; D'Alessio, Antonio; Banna, Giuseppe L; Fulgenzi, Claudia A M; Grisanti, Salvatore; Grossi, Francesco; D'Incecco, Armida; Josephides, Eleni; Van Hemelrijck, Mieke; Russo, Alessandro; Gelibter, Alain; Spinelli, Gianpaolo; Verrico, Monica; Tomasik, Bartłomiej; Giusti, Raffaele; Balachandran, Kirsty; Bria, Emilio; Sebastian, Martin; Rost, Maximilian; Forster, Martin; Mukherjee, Uma; Landi, Lorenza; Mazzoni, Francesca; Aujayeb, Avinash; Dupont, Manuel; Curioni-Fontecedro, Alessandra; Chiari, Rita; Sforza, Vincenzo; Tiseo, Marcello; Friedlaender, Alex; Addeo, Alfredo; Zoratto, Federica; De Tursi, Michele; Cantini, Luca; Roca, Elisa; Mountzios, Giannis; Rocco, Danilo; Della Gravara, Luigi; Kalvapudi, Sukumar; Inno, Alessandro; Bironzo, Paolo; Di Marco Barros, Rafael; O'Reilly, David; Fitzpatrick, Orla; Karapanagiotou, Eleni; Monnet, Isabelle; Baena, Javier; Macerelli, Marianna; Piedra, Aida; Agustoni, Francesco; Cortinovis, Diego Luigi; Tonini, Giuseppe; Minuti, Gabriele; Bennati, Chiara; Mezquita, Laura; Gorría, Teresa; Servetto, Alberto; Beninato, Teresa; Lo Russo, Giuseppe; Prelaj, Arsela; De Giglio, Andrea; Rogado, Jacobo; Moliner, Laura; Nadal, Ernest; Biello, Federica; Nana, Frank Aboubakar; Dingemans, Anne-Marie; Aerts, Joachim G J V; Ferrara, Roberto; Abu Hejleh, Taher; Takada, Kazuki; Naqash, Abdul Rafeh; Garassino, Marina Chiara; Peters, Solange; Wakelee, Heather A; Nassar, Amin H; Ricciuti, Biagio; Soda, Paolo; Caruso, Camillo Maria; Guarrasi, Valerio

Determinants of 5-year survival in patients with advanced NSCLC with PD-L1≥50% treated with first-line pembrolizumab outside of clinical trials: results from the Pembro-real 5Y global registry

在临床试验之外,接受一线帕博利珠单抗治疗的PD-L1≥50%晚期非小细胞肺癌患者的5年生存率决定因素:来自Pembro-real 5Y全球注册研究的结果

Cortellini, Alessio; Brunetti, Leonardo; Di Fazio, Giuseppina Rita; Garbo, Edoardo; Pinato, David J; Naidoo, Jarushka; Katz, Artur; Loza, Monica; Neal, Joel W; Genova, Carlo; Gettinger, Scott; Kim, So Yeon; Jayakrishnan, Ritujith; El Zarif, Talal; Russano, Marco; Pecci, Federica; Di Federico, Alessandro; Awad, Mark; Alessi, Joao V; Montrone, Michele; Owen, Dwight Hall; Signorelli, Diego; Fidler, Mary Jo; Li, Mingjia; Camerini, Andrea; De Giglio, Andrea; Young, Lauren; Vincenzi, Bruno; Metro, Giulio; Passiglia, Francesco; Yendamuri, Sai; Guida, Annalisa; Ghidini, Michele; Awosika, Nichola O; Napolitano, Andrea; Fulgenzi, Claudia A M; Grisanti, Salvatore; Grossi, Francesco; D'Incecco, Armida; Josephides, Eleni; Van Hemelrijck, Mieke; Russo, Alessandro; Gelibter, Alain; Spinelli, Gianpaolo; Verrico, Monica; Tomasik, Bartłomiej; Giusti, Raffaele; Newsom-Davis, Thomas; Bria, Emilio; Sebastian, Martin; Rost, Maximilian; Forster, Martin; Mukherjee, Uma; Landi, Lorenza; Mazzoni, Francesca; Aujayeb, Avinash; Dupont, Manuel; Curioni-Fontecedro, Alessandra; Chiari, Rita; Pantano, Francesco; Morabito, Alessandro; Leonetti, Alessandro; Friedlaender, Alex; Addeo, Alfredo; Zoratto, Federica; De Tursi, Michele; Cantini, Luca; Roca, Elisa; Mountzios, Giannis; Della Gravara, Luigi; Kalvapudi, Sukumar; Inno, Alessandro; Bironzo, Paolo; Di Marco Barros, Rafael; O'Reilly, David; Bell, Jack; Karapanagiotou, Eleni; Monnet, Isabelle; Baena, Javier; Macerelli, Marianna; Majem, Margarita; Agustoni, Francesco; Cortinovis, Diego Luigi; Tonini, Giuseppe; Minuti, Gabriele; Bennati, Chiara; Mezquita, Laura; Gorría, Teresa; Servetto, Alberto; Beninato, Teresa; Lo Russo, Giuseppe; Rogado, Jacobo; Moliner, Laura; Biello, Federica; Aboubakar Nana, Frank; Dingemans, Anne-Marie; Aerts, Joachim G J V; Ferrara, Roberto; Torri, Valter; Hejleh, Taher Abu; Takada, Kazuki; Naqash, Abdul Rafeh; Garassino, Marina; Peters, Solange; Wakelee, Heather; Nassar, Amin H; Ricciuti, Biagio

A framework for evaluating less-than-lifetime exposures: advancing toxicological risk assessment for drinking water quality

评估非终生暴露的框架:推进饮用水质量毒理学风险评估

Majid, Sanah; Reus, Astrid; Hoondert, Renske; Blokker, Mirjam; Dash, Amitosh; Houtman, Corine; Schriks, Merijn; Dingemans, Milou M L

Folinic Acid Prophylaxis and Dose Adjustments Enable Safe Treatment with Pemetrexed in Patients with Renal Impairment

叶酸预防和剂量调整可确保肾功能不全患者安全使用培美曲塞治疗。

de Rouw, Nikki; Otten, Leila-Sophie; Kicken, Mart P; Piet, Berber; Biesma, Bonne; van Veggel, Bianca; Steendam, Christi M J; van den Borne, Ben; Hendriks, Lizza E L; Croes, Sander; Dingemans, Anne-Marie C; Dumoulin, Daphne W; Mathijssen, Ron H J; Burgers, Jacobus A; Huitema, Alwin D R; Derijks, Hieronymus J; Deenen, Maarten J; van den Heuvel, Michel M; Ter Heine, Rob