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

International Mouse Phenotyping Consortium Portal: facilitating investigation of gene function and providing insights into human disease

国际小鼠表型分析联盟门户网站:促进基因功能研究,并为人类疾病研究提供见解

Wilson, Robert; Bülbül Ataç, Tuğba; Cheng, Tsz Kwan; Frost, Anthony; Güneş, Osman; Kan, Marina; Keskivali-Bond, Piia; López Gómez, Federico; McLaughlin, James; Mucha, Jakub; Munava, Tawanda; Oliveira, Carla; Pava, Diego; Peña Estrada, Jose Francisco; Selkirk, Ewan; Vardal, Bora; Wells, Sara; Cacheiro, Pilar; Smedley, Damian; Parkinson, Helen

Guillain-Barré Syndrome and Visual Impairment Associated with Emerging Oropouche Virus Lineage, Brazil, 2024

2024年巴西新出现的奥罗普切病毒谱系与格林-巴利综合征和视力障碍相关

Filho, Carlos Garcia; Carvalho, Fernanda Martins Maia; Neto, Antonio Silva Lima; Maia, Ana Maria Cabral; Rossi, Matheus Andrighetti; Pitombeira, Milena Sales; Matos, Paula Camila Alves de Assis Pereira; Coelho, Tania Mara Silva; Neto, Lauro Vieira Perdigão; de Almeida, Lívia Mendes; Naveca, Felipe Gomes; de Oliveira, Carla Santos; de Bruycker-Nogueira, Fernanda; de Filippis, Ana Maria Bispo; Luz, Kleber Giovanni; Ribas Freitas, André Ricardo; de Góes Cavalcanti, Luciano Pamplona

Genome Sequencing of Undiagnosed European Patients Suspected of Hereditary Cancer: Diagnostic Yield and Identification of Candidate Causative Variants

对疑似患有遗传性癌症的未确诊欧洲患者进行基因组测序:诊断率和候选致病变异的鉴定

Martins, Nelson; Terradas, Mariona; Garcia-Pelaez, José; Sommer, Anna K; Demidov, German; Matalonga, Leslie; Ramos-Muntada, Mireia; Te Paske, Iris B A W; Spier, Isabel; Mensenkamp, Arjen; Schuurs-Hoeijmakers, Janneke; Gullo, Irene; São José, Celina; Pedro, Ana Maria; Gouveia Silva, Raquel; Sousa, Ana Berta; Amoroso Canão, Pedro; Fernandes, Susana; Garrido, Luzia; Dupont, Juliette; Maia, Sofia; Sousa, Gabriela; Irmejs, Arvids; Barili, Valeria; Blatnik, Ana; Rofes, Paula; Brunet, Joan; Capellá, Gabriel; Laurie, Steven; Lázaro, Conxi; Hoogerbrugge, Nicoline; de Voer, Richarda M; Aretz, Stefan; Oliveira, Carla; Valle, Laura

Sustained Oropouche virus transmission in Rio de Janeiro's Atlantic Forest: genomic evidence over a two-year period

里约热内卢大西洋森林中奥罗普切病毒的持续传播:两年的基因组证据

Arantes, Ighor; Bruycker-Nogueira, Fernanda de; Oliveira, Carla de; Sequeira, Patrícia Carvalho; Lupi, Otília; Borges, Michele; Melo, Carolina Lopes; Brendolin, Michelle; Braga, Antonio; Velasque, Luciane de Souza; Cavalcanti, Andréa Cony; Camargo, Adriana Cardoso; Costa, Fábio Burack da; Moreira, Cristiane Gomes de Castro; Dias, Vanessa Zaquieu; Sousa, Thiago de Jesus; Gatti, Felipe Donateli; Mendonça, Gabriela Colombo de; Nodari, Joana Zorzal; Ribeiro-Rodrigues, Rodrigo; Delatorre, Edson; Calvet, Guilherme; Naveca, Felipe Gomes; Brasil, Patricia; Filippis, Ana Maria Bispo de; Bello, Gonzalo

Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses

对泛欧洲罕见病资源进行基因组重新分析,得出新的诊断结果

Laurie, Steven; Steyaert, Wouter; de Boer, Elke; Polavarapu, Kiran; Schuermans, Nika; Sommer, Anna K; Demidov, German; Ellwanger, Kornelia; Paramonov, Ida; Thomas, Coline; Aretz, Stefan; Baets, Jonathan; Benetti, Elisa; Bullich, Gemma; Chinnery, Patrick F; Clayton-Smith, Jill; Cohen, Enzo; Danis, Daniel; de Sainte Agathe, Jean-Madeleine; Denommé-Pichon, Anne-Sophie; Diaz-Manera, Jordi; Efthymiou, Stephanie; Faivre, Laurence; Fernandez-Callejo, Marcos; Freeberg, Mallory; Garcia-Pelaez, José; Guillot-Noel, Lena; Haack, Tobias B; Hanna, Mike; Hengel, Holger; Horvath, Rita; Houlden, Henry; Jackson, Adam; Johansson, Lennart; Johari, Mridul; Kamsteeg, Erik-Jan; Kellner, Melanie; Kleefstra, Tjitske; Lacombe, Didier; Lochmüller, Hanns; López-Martín, Estrella; Macaya, Alfons; Marcé-Grau, Anna; Maver, Aleš; Morsy, Heba; Muntoni, Francesco; Musacchia, Francesco; Nelson, Isabelle; Nigro, Vincenzo; Olimpio, Catarina; Oliveira, Carla; Paulasová Schwabová, Jaroslava; Pauly, Martje G; Peterlin, Borut; Peters, Sophia; Pfundt, Rolph; Piluso, Giulio; Piscia, Davide; Posada, Manuel; Reich, Selina; Renieri, Alessandra; Ryba, Lukas; Šablauskas, Karolis; Savarese, Marco; Schöls, Ludger; Schütz, Leon; Steinke-Lange, Verena; Stevanin, Giovanni; Straub, Volker; Sturm, Marc; Swertz, Morris A; Tartaglia, Marco; Te Paske, Iris B A W; Thompson, Rachel; Torella, Annalaura; Trainor, Christina; Udd, Bjarne; Van de Vondel, Liedewei; van de Warrenburg, Bart; van Reeuwijk, Jeroen; Vandrovcova, Jana; Vitobello, Antonio; Vos, Janet; Vyhnálková, Emílie; Wijngaard, Robin; Wilke, Carlo; William, Doreen; Xu, Jishu; Yaldiz, Burcu; Zalatnai, Luca; Zurek, Birte; Brookes, Anthony J; Evangelista, Teresinha; Gilissen, Christian; Graessner, Holm; Hoogerbrugge, Nicoline; Ossowski, Stephan; Riess, Olaf; Schüle, Rebecca; Synofzik, Matthis; Verloes, Alain; Matalonga, Leslie; Brunner, Han G; Lohmann, Katja; de Voer, Richarda M; Töpf, Ana; Vissers, Lisenka E L M; Beltran, Sergi; Hoischen, Alexander

Publisher Correction: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses

出版商更正:对泛欧洲罕见病资源进行基因组重新分析,得出新的诊断结果

Laurie, Steven; Steyaert, Wouter; de Boer, Elke; Polavarapu, Kiran; Schuermans, Nika; Sommer, Anna K; Demidov, German; Ellwanger, Kornelia; Paramonov, Ida; Thomas, Coline; Aretz, Stefan; Baets, Jonathan; Benetti, Elisa; Bullich, Gemma; Chinnery, Patrick F; Clayton-Smith, Jill; Cohen, Enzo; Danis, Daniel; de Sainte Agathe, Jean-Madeleine; Denommé-Pichon, Anne-Sophie; Diaz-Manera, Jordi; Efthymiou, Stephanie; Faivre, Laurence; Fernandez-Callejo, Marcos; Freeberg, Mallory; Garcia-Pelaez, José; Guillot-Noel, Lena; Haack, Tobias B; Hanna, Mike; Hengel, Holger; Horvath, Rita; Houlden, Henry; Jackson, Adam; Johansson, Lennart; Johari, Mridul; Kamsteeg, Erik-Jan; Kellner, Melanie; Kleefstra, Tjitske; Lacombe, Didier; Lochmüller, Hanns; López-Martín, Estrella; Macaya, Alfons; Marcé-Grau, Anna; Maver, Aleš; Morsy, Heba; Muntoni, Francesco; Musacchia, Francesco; Nelson, Isabelle; Nigro, Vincenzo; Olimpio, Catarina; Oliveira, Carla; Paulasová Schwabová, Jaroslava; Pauly, Martje G; Peterlin, Borut; Peters, Sophia; Pfundt, Rolph; Piluso, Giulio; Piscia, Davide; Posada, Manuel; Reich, Selina; Renieri, Alessandra; Ryba, Lukas; Šablauskas, Karolis; Savarese, Marco; Schöls, Ludger; Schütz, Leon; Steinke-Lange, Verena; Stevanin, Giovanni; Straub, Volker; Sturm, Marc; Swertz, Morris A; Tartaglia, Marco; Te Paske, Iris B A W; Thompson, Rachel; Torella, Annalaura; Trainor, Christina; Udd, Bjarne; Van de Vondel, Liedewei; van de Warrenburg, Bart; van Reeuwijk, Jeroen; Vandrovcova, Jana; Vitobello, Antonio; Vos, Janet; Vyhnálková, Emílie; Wijngaard, Robin; Wilke, Carlo; William, Doreen; Xu, Jishu; Yaldiz, Burcu; Zalatnai, Luca; Zurek, Birte; Brookes, Anthony J; Evangelista, Teresinha; Gilissen, Christian; Graessner, Holm; Hoogerbrugge, Nicoline; Ossowski, Stephan; Riess, Olaf; Schüle, Rebecca; Synofzik, Matthis; Verloes, Alain; Matalonga, Leslie; Brunner, Han G; Lohmann, Katja; de Voer, Richarda M; Töpf, Ana; Vissers, Lisenka E L M; Beltran, Sergi; Hoischen, Alexander

Tree species hyperdominance and rarity in the South American Cerrado

南美塞拉多草原的树种优势和稀有性

Alvarez, Facundo; Marimon-Junior, Ben Hur; Marimon, Beatriz S; Ter Steege, Hans; Phillips, Oliver L; Dias Françoso Brandão, Renata; Matricardi, Eraldo A Trondoli; Pinto, José Roberto Rodrigues; Guimarães Guilherme, Frederico Augusto; Leandro Bueno, Marcelo; Miranda, Sabrina; Walter, Bruno Machado Teles; Rodrigues Munhoz, Cássia B; de Souza Lima, Edson; Aquino, Fabiana de Góis; Mews, Henrique Augusto; Ribeiro, José Felipe; Carniello, Maria Antônia; Bustamante, Mercedes Maria da Cunha; Haidar, Ricardo; Morandi, Paulo Sérgio; de Oliveira, Edmar Almeida; Finger, Zenésio; Neves, Eder Carvalho das; Elias, Fernando; Oliveras Menor, Immaculada; Machado Parreira, Ana Lyz; Lenza de Oliveira, Eddie; Marques, Eduardo Queiróz; Exavier, Reginal; Luz de Oliveira, Carla Heloísa; Prestes, Nayane Cristina Candida Dos Santos; Matias de Almeida Reis, Simone; Jonatar Alves da Cruz, Wesley; Feldpausch, Ted R

Decoding migraine disorders: parathyroid hormone-related peptide receptors as key genetic drivers

解读偏头痛:甲状旁腺激素相关肽受体作为关键遗传驱动因素

Dias, Andreia; Ferreira, Marta; Santos, Mariana; Sousa, Alda; Oliveira, Carla; Alves-Ferreira, Miguel; Lemos, Carolina

TP53 p.R181H is enriched in the Swedish cohort (SWEP53) and associated with a distinct breast and prostate phenotype

TP53 p.R181H 在瑞典人群队列 (SWEP53) 中富集,并与独特的乳腺癌和前列腺癌表型相关。

Sun Zhang, Alexander; Omran, Meis; Arthur, Cecilia; Malmgren, Helena; Barbosa-Matos, Rita; Seixas, Susana; Oliveira, Carla; Tham, Emma; Bajalica-Lagercrantz, Svetlana

New insights into nuclear import and nucleolar localization of yeast RNA exosome subunits

酵母RNA外泌体亚基核输入和核仁定位的新见解

Neto, Valdir Gomes; Cepeda, Leidy Paola P; Queiroz, Bruno R S; Cantaloube, Sylvain; Leger-Silvestre, Isabelle; Mangeat, Thomas; Albert, Benjamin; Gadal, Olivier; Oliveira, Carla C