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

Carbon and nitrogen (δ(13)C, δ(15)N) isotope ratios of zooplankton in Lake Maggiore (Italy): a 13-year dataset

马焦雷湖(意大利)浮游动物碳氮同位素比值(δ¹³C、δ¹⁵N):13 年数据集

Piscia, Roberta; Caroni, Rossana; Bettinetti, Roberta; Manca, Marina

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

Acute kidney injury in hospitalized patients with real-life analysis of incidence and clinical impact in Italian hospitals (the SIN-AKI study)

意大利医院住院患者急性肾损伤发生率及临床影响的真实世界分析(SIN-AKI 研究)

Esposito, Pasquale; Cappadona, Francesca; Prenna, Stefania; Marengo, Marita; Fiorentino, Marco; Fabbrini, Paolo; Quercia, Alessandro Domenico; Naso, Erika; Garzotto, Francesco; Russo, Elisa; Zanetti, Valentina; Piscia, Riccardo; Capponi, Andrea; Castellano, Giuseppe; Cantaluppi, Vincenzo

ADP101 multifood oral immunotherapy for food-allergic patients: Harmony phase 1/2 randomized clinical trial

ADP101 多食物口服免疫疗法治疗食物过敏患者:Harmony 1/2 期随机临床试验

Kim, Edwin H; Carr, Warner W; Assa'ad, Amal H; Gogate, Shaila U; Petroni, Daniel H; Casale, Thomas B; Wang, Mei-Lun; Sullivan, Amy; Archer, Amy M; Wang, Ouhong; Piscia-Nichols, Cheri; Tuomi, Lisa; Levin-Young, Olga; Dombkowski, Ashley; McClintock, Dana

Phenotypic similarity-based approach for variant prioritization for unsolved rare disease: a preliminary methodological report

基于表型相似性的未解决罕见病变异优先级排序方法:初步方法学报告

Lagorce, David; Lebreton, Emeline; Matalonga, Leslie; Hongnat, Oscar; Chahdil, Maroua; Piscia, Davide; Paramonov, Ida; Ellwanger, Kornelia; Köhler, Sebastian; Robinson, Peter; Graessner, Holm; Beltran, Sergi; Lucano, Caterina; Hanauer, Marc; Rath, Ana

An interconnected data infrastructure to support large-scale rare disease research

构建互联互通的数据基础设施,以支持大规模罕见病研究

Johansson, Lennart F; Laurie, Steve; Spalding, Dylan; Gibson, Spencer; Ruvolo, David; Thomas, Coline; Piscia, Davide; de Andrade, Fernanda; Been, Gerieke; Bijlsma, Marieke; Brunner, Han; Cimerman, Sandi; Dizjikan, Farid Yavari; Ellwanger, Kornelia; Fernandez, Marcos; Freeberg, Mallory; van de Geijn, Gert-Jan; Kanninga, Roan; Maddi, Vatsalya; Mehtarizadeh, Mehdi; Neerincx, Pieter; Ossowski, Stephan; Rath, Ana; Roelofs-Prins, Dieuwke; Stok-Benjamins, Marloes; van der Velde, K Joeri; Veal, Colin; van der Vries, Gerben; Wadsley, Marc; Warren, Gregory; Zurek, Birte; Keane, Thomas; Graessner, Holm; Beltran, Sergi; Swertz, Morris A; Brookes, Anthony J

Remote visualization of large-scale genomic alignments for collaborative clinical research and diagnosis of rare diseases

利用远程可视化技术实现大规模基因组比对,以开展合作临床研究和罕见病诊断

Corvò, Alberto; Matalonga, Leslie; Spalding, Dylan; Senf, Alexander; Laurie, Steven; Picó-Amador, Daniel; Fernandez-Callejo, Marcos; Paramonov, Ida; Romero, Anna Foix; Garcia-Rios, Emilio; Ciges, Jorge Izquierdo; Mohan, Anand; Thomas, Coline; Silva Valencia, Andres Felipe; Halmagyi, Csaba; Freeberg, Mallory Ann; Töpf, Ana; Horvath, Rita; Saunders, Gary; Gut, Ivo; Keane, Thomas; Piscia, Davide; Beltran, Sergi

Wnt genes in colonic polyposis predisposition

Wnt基因与结肠息肉易感性

Quintana, Isabel; Terradas, Mariona; Mur, Pilar; Te Paske, Iris B A W; Peters, Sophia; Spier, Isabel; Steinke-Lange, Verena; Maestro, Claudia; Torrents, David; Puiggròs, Montserrat; Royo, Romina; Tonda, Raul; Parra, Genís; Piscia, Davide; Beltrán, Sergi; Navarro, Matilde; Piñol, Virginia; Brunet, Joan; Gonzalez-Abuin, Noemi; Aiza, Gemma; Sommer, Anna; van Herwaarden, Yasmijn; Astuti, Galuh; Holinski-Feder, Elke; Hoogerbrugge, Nicoline; de Voer, Richarda M; Aretz, Stefan; Capellá, Gabriel; Valle, Laura

The GA4GH Phenopacket schema defines a computable representation of clinical data

GA4GH Phenopacket 模式定义了临床数据的可计算表示。

Jacobsen, Julius O B; Baudis, Michael; Baynam, Gareth S; Beckmann, Jacques S; Beltran, Sergi; Buske, Orion J; Callahan, Tiffany J; Chute, Christopher G; Courtot, Mélanie; Danis, Daniel; Elemento, Olivier; Essenwanger, Andrea; Freimuth, Robert R; Gargano, Michael A; Groza, Tudor; Hamosh, Ada; Harris, Nomi L; Kaliyaperumal, Rajaram; Lloyd, Kevin C Kent; Khalifa, Aly; Krawitz, Peter M; Köhler, Sebastian; Laraway, Brian J; Lehväslaiho, Heikki; Matalonga, Leslie; McMurry, Julie A; Metke-Jimenez, Alejandro; Mungall, Christopher J; Munoz-Torres, Monica C; Ogishima, Soichi; Papakonstantinou, Anastasios; Piscia, Davide; Pontikos, Nikolas; Queralt-Rosinach, Núria; Roos, Marco; Sass, Julian; Schofield, Paul N; Seelow, Dominik; Siapos, Anastasios; Smedley, Damian; Smith, Lindsay D; Steinhaus, Robin; Sundaramurthi, Jagadish Chandrabose; Swietlik, Emilia M; Thun, Sylvia; Vasilevsky, Nicole A; Wagner, Alex H; Warner, Jeremy L; Weiland, Claus; Haendel, Melissa A; Robinson, Peter N