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

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

Complete Complement Factor I (CFI) deficiency: a systematic review of forty-nine patients including three novel cases

完全性补体因子I(CFI)缺乏症:对49例患者(包括3例新病例)的系统性回顾

Rajabi, Erta; Kheirabadi, Mahsa Choroom; Olyaei, Nasrin Alipour; Molitor, Anne; Khorshidi, Mohadese Sadat Mousavi; Heidari, Morteza; Abbasi, Arash; Rostami, Parastoo; Mahdavi, Mohadese; Carapito, Raphael; Shahrooei, Mohammad; Bahram, Seiamak; Parvaneh, Nima

[Mendelian randomization analysis of the causal relationships between human inflammatory proteins and keloids]

[人类炎症蛋白与瘢痕疙瘩因果关系的孟德尔随机化分析]

van der Linden, Tristan J; Arts, Rob J W; Biggs, Catherine M; Habibi, Laleh; Batlle-Masó, Laura; van Laarhoven, Arjan; Scheepmaker, Lisette M; Yousefi, Pariya; Gómez-Raccio, Andrea C; Alizadeh, Zahra; Mulders-Manders, Catharina M; Oever, Jaap Ten; Schuurs-Hoeijmakers, Janneke; Alipour-Olyei, Nasrin; Molitor, Anne; Di Giovanni, Daniela; Carapito, Raphael; Bahram, Seiamak; Seminario, Gisela; Bezrodnik, Liliana; Momenilandi, Mana; Shahrooei, Mohammad; Bustamante, Jacinta; Aksentijevich, Ivona; Kastner, Daniel; Fazlollahi, Mohammad R; Colobran, Roger; Turvey, Stuart E; van de Veerdonk, Frank L; Casanova, Jean-Laurent; Boisson, Bertrand; Bardoel, Bart W; Spaan, András N; 李, 涛; 朱, 晨晨; 陈, 今源; 李, 璞真; 金, 培生; 李, 雪阳

Deciphering HIV vaccine-induced antibody response according to ethnicity

根据种族解读艾滋病疫苗诱导的抗体反应

Lin, Li-Yun; Ferte, Thomas; Chachage, Mkunde; Casteano, Celso; Laumond, Géraldine; Schmidt, Sylvie; Tahar, Ouria; Carapito, Raphael; Bekker, Linda-Gail; Churchyard, Gavin; Keefer, Michael; Moodie, Zoe; Viegas, Edna; Geldmacher, Christof; Lhomme, Edouard; Moog, Christiane

Targeting the MAtrix REgulating MOtif abolishes several hallmarks of cancer, triggering antitumor immunity.

靶向 MAtrix REgulating MOtif 可消除癌症的几个标志性特征,从而触发抗肿瘤免疫

Li Chengbei, Kaur Amanpreet, Pavlidaki Alexia, Spenlé Caroline, Rajnpreht Irena, Donnadieu Emmanuel, Salomé Nathalie, Molitor Anne, Carapito Raphael, Wack Fanny, Erne William, Lefebvre Olivier, Averous Gerlinde, Mitrentsi Ioanna, Loustau Thomas, Orend Gertraud

Machine learning for precision diagnostics of autoimmunity

利用机器学习进行自身免疫性疾病的精准诊断

Kruta, Jan; Carapito, Raphael; Trendelenburg, Marten; Martin, Thierry; Rizzi, Marta; Voll, Reinhard E; Cavalli, Andrea; Natali, Eriberto; Meier, Patrick; Stawiski, Marc; Mosbacher, Johannes; Mollet, Annette; Santoro, Aurelia; Capri, Miriam; Giampieri, Enrico; Schkommodau, Erik; Miho, Enkelejda

Human IL-23 is essential for IFN-γ-dependent immunity to mycobacteria

人类IL-23对于IFN-γ依赖性抗分枝杆菌免疫至关重要

Philippot, Quentin; Ogishi, Masato; Bohlen, Jonathan; Puchan, Julia; Arias, Andrés Augusto; Nguyen, Tina; Martin-Fernandez, Marta; Conil, Clement; Rinchai, Darawan; Momenilandi, Mana; Mahdaviani, Seyed Alireza; Keramatipour, Mohammad; Rosain, Jérémie; Yang, Rui; Khan, Taushif; Neehus, Anna-Lena; Materna, Marie; Han, Ji Eun; Peel, Jessica; Mele, Federico; Weisshaar, Marc; Jovic, Sandra; Bastard, Paul; Lévy, Romain; Le Voyer, Tom; Zhang, Peng; Maglorius Renkilaraj, Majistor Raj Luxman; Arango-Franco, Carlos A; Pelham, Simon; Seeleuthner, Yoann; Pochon, Mathieu; Ata, Manar Mahmoud Ahmad; Al Ali, Fatima; Migaud, Mélanie; Soudée, Camille; Kochetkov, Tatiana; Molitor, Anne; Carapito, Raphael; Bahram, Seiamak; Boisson, Bertrand; Fieschi, Claire; Mansouri, Davood; Marr, Nico; Okada, Satoshi; Shahrooei, Mohammad; Parvaneh, Nima; Chavoshzadeh, Zahra; Cobat, Aurélie; Bogunovic, Dusan; Abel, Laurent; Tangye, Stuart G; Ma, Cindy S; Béziat, Vivien; Sallusto, Federica; Boisson-Dupuis, Stéphanie; Bustamante, Jacinta; Casanova, Jean-Laurent; Puel, Anne

Multiomics of three hematological malignancies in a patient reveal their origin from clonal hematopoietic stem cells

对一名患者体内三种血液系统恶性肿瘤的多组学分析揭示了它们起源于克隆性造血干细胞。

Mayeur, Sylvain; Molitor, Anne; Miguet, Laurent; Rigolot, Lucie; Naegely, Lydie; Stemmelen, Tristan; Meyer, Sébastien; Toussaint, Elise; Vallat, Laurent; Eischen, Alice; Chenard, Marie-Pierre; Tavian, Manuela; Bahram, Seiamak; Carapito, Raphael; Nicolae, Alina

Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy

罕见的EIF4A2变异与一种神经发育障碍有关,其特征是智力障碍、肌张力低下和癫痫。

Paul, Maimuna S; Duncan, Anna R; Genetti, Casie A; Pan, Hongling; Jackson, Adam; Grant, Patricia E; Shi, Jiahai; Pinelli, Michele; Brunetti-Pierri, Nicola; Garza-Flores, Alexandra; Shahani, Dave; Saneto, Russell P; Zampino, Giuseppe; Leoni, Chiara; Agolini, Emanuele; Novelli, Antonio; Blümlein Tobias B Haack, Ulrike; Heinritz, Wolfram; Matzker, Eva; Alhaddad, Bader; Jamra, Rami Abou; Bartolomaeus, Tobias; AlHamdan, Saber; Carapito, Raphael; Isidor, Bertrand; Bahram, Seiamak; Ritter, Alyssa; Izumi, Kosuke; Shakked, Ben Pode; Barel, Ortal; Ben Zeev, Bruria; Begtrup, Amber; Carere, Deanna Alexis; Mullegama, Sureni V; Palculict, Timothy Blake; Calame, Daniel G; Schwan, Katharina; Aycinena, Alicia R P; Traberg, Rasa; Douzgou, Sofia; Pirt, Harrison; Ismayilova, Naila; Banka, Siddharth; Chao, Hsiao-Tuan; Agrawal, Pankaj B

Genomic profiling of a metastatic anaplastic melanocytic neuroectodermal tumor arising from a mature thymic teratoma as part of a mediastinal germ cell tumor

对起源于纵隔生殖细胞肿瘤的成熟胸腺畸胎瘤的转移性间变性黑色素细胞神经外胚层肿瘤进行基因组分析

Mayeur, Sylvain; Lhermitte, Benoit; Gantzer, Justine; Molitor, Anne; Stemmelen, Tristan; Meyer, Sébastien; Kolmer, Aline; Kurtz, Jean-Emmanuel; Bahram, Seiamak; Carapito, Raphael