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

Exploring the hereditary genetic mutational landscape of breast and ovarian cancer in Estonia

探索爱沙尼亚乳腺癌和卵巢癌的遗传基因突变图谱

Tooming, Mikk; Toome, Kadri; Rekker, Kadri; Roht, Laura; Laidre, Piret; Fjodorova, Olga; Roomere, Hanno; Murumets, Ülle; Šamarina, Ustina; Pajusalu, Sander; Žordania, Riina; Tael, Kristi; Vaidla, Eve; Kurvinen, Elvira; Tõnisson, Neeme; Ilisson, Mihkel; Padrik, Peeter; Lehtsaar, Jaak; Kütner, Riina; Vettus, Elen; Vahar, Helen; Peets, Pilleriin; Õunap, Katrin; Kahre, Tiina

Nationwide Study of Pediatric Drug-Resistant Epilepsy in Estonia: Lower Incidence and Insights into Etiology

爱沙尼亚全国儿童耐药性癫痫研究:发病率较低及病因学见解

Lilles, Stella; Heidmets, Klari; Oja, Kaisa Teele; Reinson, Karit; Roht, Laura; Pajusalu, Sander; Wojcik, Monica H; Õunap, Katrin; Talvik, Inga

Systematic evaluation of medication adherence determinants across 137 active substances on population-level real-world health data

基于人群真实世界健康数据,对137种活性物质的用药依从性决定因素进行系统评估

Mooses, Kerli; Oja, Marek; Malk, Maria; Loorents, Helene; Pajusalu, Maarja; Umov, Nikita; Tamm, Sirli; Holm, Johannes; Keidong, Hanna; Tillmann, Taavi; Reisberg, Sulev; Vilo, Jaak; Kolde, Raivo

Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing data sets

利用基因组、外显子组和panel测序数据集诊断漏诊的脊髓性肌萎缩症病例

Weisburd, Ben; Sharma, Rakshya; Pata, Villem; Reimand, Tiia; Ganesh, Vijay S; Austin-Tse, Christina; Osei-Owusu, Ikeoluwa; O'Heir, Emily; O'Leary, Melanie; Pais, Lynn; Stafki, Seth A; Daugherty, Audrey L; Folland, Chiara; Peric, Stojan; Fahmy, Nagia; Udd, Bjarne; Horáková, Magda; Łusakowska, Anna; Manoj, Rajanna; Nalini, Atchayaram; Karcagi, Veronika; Polavarapu, Kiran; Lochmüller, Hanns; Horvath, Rita; Bönnemann, Carsten G; Donkervoort, Sandra; Haliloğlu, Göknur; Herguner, Ozlem; Kang, Peter B; Ravenscroft, Gianina; Laing, Nigel; Scott, Hamish S; Töpf, Ana; Straub, Volker; Pajusalu, Sander; Õunap, Katrin; Tiao, Grace; Rehm, Heidi L; O'Donnell-Luria, Anne

Genome and transcriptome sequencing for inborn errors of immunity: a feasible multi-omics diagnostic approach

基因组和转录组测序在先天性免疫缺陷诊断中的应用:一种可行的多组学诊断方法

Rozevska, Marija; Daila Neiburga-Vigante, Katrina; Nartisa, Inga; Lucane, Zane; Ozola, Lota; Bardina, Livija; Jaunalksne, Inta; Gerula, Natalija; Krike, Petra; Taurina, Gita; Nokalna-Spale, Ieva; Micule, Ieva; Vilne, Baiba; Kisand, Kai; Pajusalu, Sander; Gailite, Linda; Rots, Dmitrijs; Kurjane, Natalja

Guidance for the Clinical Use of the Breast Cancer Polygenic Risk Scores

乳腺癌多基因风险评分临床应用指南

Padrik, Peeter; Tõnisson, Neeme; Hovda, Tone; Sahlberg, Kristine Kleivi; Hovig, Eivind; Costa, Luís; Nogueira da Costa, Gonçalo; Feldman, Inna; Sampaio, Filipa; Pajusalu, Sander; Ojamaa, Kristiina; Kallak, Kersti; Tihamäe, Ave-Triin; Roht, Laura; Kahre, Tiina; Lepland, Anni; Sõber, Siim; Kruuv-Käo, Krista; Tamm, Madli; Varghese, Jajini; Evans, Dafydd Gareth

Exploratory analysis of epilepsy biomarkers using untargeted metabolomics across multiple cohorts

利用非靶向代谢组学对多个队列中的癫痫生物标志物进行探索性分析

Oja, Kaisa T; Ilisson, Mihkel; Reinson, Karit; Muru, Kai; Reimand, Tiia; Peterson, Hedi; Fishman, Dmytro; Haller, Toomas; Kronberg, Jaanika; Estonian Biobank Research Team; Wojcik, Monica H; Kennedy, Adam D; Sommerville, Laura; Michelotti, Gregory; O'Donnell-Luria, Anne; Õiglane-Shlik, Eve; Pajusalu, Sander; Õunap, Katrin

Genome Sequencing for Diagnosing Rare Diseases

基因组测序在罕见病诊断中的应用

Wojcik, Monica H; Lemire, Gabrielle; Berger, Eva; Zaki, Maha S; Wissmann, Mariel; Win, Wathone; White, Susan M; Weisburd, Ben; Wieczorek, Dagmar; Waddell, Leigh B; Verboon, Jeffrey M; VanNoy, Grace E; Töpf, Ana; Tan, Tiong Yang; Syrbe, Steffen; Strehlow, Vincent; Straub, Volker; Stenton, Sarah L; Snow, Hana; Singer-Berk, Moriel; Silver, Josh; Shril, Shirlee; Seaby, Eleanor G; Schneider, Ronen; Sankaran, Vijay G; Sanchis-Juan, Alba; Russell, Kathryn A; Reinson, Karit; Ravenscroft, Gianina; Radtke, Maximilian; Popp, Denny; Polster, Tilman; Platzer, Konrad; Pierce, Eric A; Place, Emily M; Pajusalu, Sander; Pais, Lynn; Õunap, Katrin; Osei-Owusu, Ikeoluwa; Opperman, Henry; Okur, Volkan; Oja, Kaisa Teele; O'Leary, Melanie; O'Heir, Emily; Morel, Chantal F; Merkenschlager, Andreas; Marchant, Rhett G; Mangilog, Brian E; Madden, Jill A; MacArthur, Daniel; Lovgren, Alysia; Lerner-Ellis, Jordan P; Lin, Jasmine; Laing, Nigel; Hildebrandt, Friedhelm; Hentschel, Julia; Groopman, Emily; Goodrich, Julia; Gleeson, Joseph G; Ghaoui, Roula; Genetti, Casie A; Gburek-Augustat, Janina; Gazda, Hanna T; Ganesh, Vijay S; Ganapathi, Mythily; Gallacher, Lyndon; Fu, Jack M; Evangelista, Emily; England, Eleina; Donkervoort, Sandra; DiTroia, Stephanie; Cooper, Sandra T; Chung, Wendy K; Christodoulou, John; Chao, Katherine R; Cato, Liam D; Bujakowska, Kinga M; Bryen, Samantha J; Brand, Harrison; Bönnemann, Carsten G; Beggs, Alan H; Baxter, Samantha M; Bartolomaeus, Tobias; Agrawal, Pankaj B; Talkowski, Michael; Austin-Tse, Christina; Abou Jamra, Rami; Rehm, Heidi L; O'Donnell-Luria, Anne

Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease

在一组未确诊罕见遗传病家族中开展外显子组拷贝数变异的检测、分析和分类

Lemire, Gabrielle; Sanchis-Juan, Alba; Russell, Kathryn; Baxter, Samantha; Chao, Katherine R; Singer-Berk, Moriel; Groopman, Emily; Wong, Isaac; England, Eleina; Goodrich, Julia; Pais, Lynn; Austin-Tse, Christina; DiTroia, Stephanie; O'Heir, Emily; Ganesh, Vijay S; Wojcik, Monica H; Evangelista, Emily; Snow, Hana; Osei-Owusu, Ikeoluwa; Fu, Jack; Singh, Mugdha; Mostovoy, Yulia; Huang, Steve; Garimella, Kiran; Kirkham, Samantha L; Neil, Jennifer E; Shao, Diane D; Walsh, Christopher A; Argilli, Emanuela; Le, Carolyn; Sherr, Elliott H; Gleeson, Joseph G; Shril, Shirlee; Schneider, Ronen; Hildebrandt, Friedhelm; Sankaran, Vijay G; Madden, Jill A; Genetti, Casie A; Beggs, Alan H; Agrawal, Pankaj B; Bujakowska, Kinga M; Place, Emily; Pierce, Eric A; Donkervoort, Sandra; Bönnemann, Carsten G; Gallacher, Lyndon; Stark, Zornitza; Tan, Tiong Yang; White, Susan M; Töpf, Ana; Straub, Volker; Fleming, Mark D; Pollak, Martin R; Õunap, Katrin; Pajusalu, Sander; Donald, Kirsten A; Bruwer, Zandre; Ravenscroft, Gianina; Laing, Nigel G; MacArthur, Daniel G; Rehm, Heidi L; Talkowski, Michael E; Brand, Harrison; O'Donnell-Luria, Anne

The Comet Interceptor Mission

彗星拦截器任务

Jones, Geraint H; Snodgrass, Colin; Tubiana, Cecilia; Küppers, Michael; Kawakita, Hideyo; Lara, Luisa M; Agarwal, Jessica; André, Nicolas; Attree, Nicholas; Auster, Uli; Bagnulo, Stefano; Bannister, Michele; Beth, Arnaud; Bowles, Neil; Coates, Andrew; Colangeli, Luigi; Corral van Damme, Carlos; Da Deppo, Vania; De Keyser, Johan; Della Corte, Vincenzo; Edberg, Niklas; El-Maarry, Mohamed Ramy; Faggi, Sara; Fulle, Marco; Funase, Ryu; Galand, Marina; Goetz, Charlotte; Groussin, Olivier; Guilbert-Lepoutre, Aurélie; Henri, Pierre; Kasahara, Satoshi; Kereszturi, Akos; Kidger, Mark; Knight, Matthew; Kokotanekova, Rosita; Kolmasova, Ivana; Kossacki, Konrad; Kührt, Ekkehard; Kwon, Yuna; La Forgia, Fiorangela; Levasseur-Regourd, Anny-Chantal; Lippi, Manuela; Longobardo, Andrea; Marschall, Raphael; Morawski, Marek; Muñoz, Olga; Näsilä, Antti; Nilsson, Hans; Opitom, Cyrielle; Pajusalu, Mihkel; Pommerol, Antoine; Prech, Lubomir; Rando, Nicola; Ratti, Francesco; Rothkaehl, Hanna; Rotundi, Alessandra; Rubin, Martin; Sakatani, Naoya; Sánchez, Joan Pau; Simon Wedlund, Cyril; Stankov, Anamarija; Thomas, Nicolas; Toth, Imre; Villanueva, Geronimo; Vincent, Jean-Baptiste; Volwerk, Martin; Wurz, Peter; Wielders, Arno; Yoshioka, Kazuo; Aleksiejuk, Konrad; Alvarez, Fernando; Amoros, Carine; Aslam, Shahid; Atamaniuk, Barbara; Baran, Jędrzej; Barciński, Tomasz; Beck, Thomas; Behnke, Thomas; Berglund, Martin; Bertini, Ivano; Bieda, Marcin; Binczyk, Piotr; Busch, Martin-Diego; Cacovean, Andrei; Capria, Maria Teresa; Carr, Chris; Castro Marín, José María; Ceriotti, Matteo; Chioetto, Paolo; Chuchra-Konrad, Agata; Cocola, Lorenzo; Colin, Fabrice; Crews, Chiaki; Cripps, Victoria; Cupido, Emanuele; Dassatti, Alberto; Davidsson, Björn J R; De Roche, Thierry; Deca, Jan; Del Togno, Simone; Dhooghe, Frederik; Donaldson Hanna, Kerri; Eriksson, Anders; Fedorov, Andrey; Fernández-Valenzuela, Estela; Ferretti, Stefano; Floriot, Johan; Frassetto, Fabio; Fredriksson, Jesper; Garnier, Philippe; Gaweł, Dorota; Génot, Vincent; Gerber, Thomas; Glassmeier, Karl-Heinz; Granvik, Mikael; Grison, Benjamin; Gunell, Herbert; Hachemi, Tedjani; Hagen, Christian; Hajra, Rajkumar; Harada, Yuki; Hasiba, Johann; Haslebacher, Nico; Herranz De La Revilla, Miguel Luis; Hestroffer, Daniel; Hewagama, Tilak; Holt, Carrie; Hviid, Stubbe; Iakubivskyi, Iaroslav; Inno, Laura; Irwin, Patrick; Ivanovski, Stavro; Jansky, Jiri; Jernej, Irmgard; Jeszenszky, Harald; Jimenéz, Jaime; Jorda, Laurent; Kama, Mihkel; Kameda, Shingo; Kelley, Michael S P; Klepacki, Kamil; Kohout, Tomáš; Kojima, Hirotsugu; Kowalski, Tomasz; Kuwabara, Masaki; Ladno, Michal; Laky, Gunter; Lammer, Helmut; Lan, Radek; Lavraud, Benoit; Lazzarin, Monica; Le Duff, Olivier; Lee, Qiu-Mei; Lesniak, Cezary; Lewis, Zoe; Lin, Zhong-Yi; Lister, Tim; Lowry, Stephen; Magnes, Werner; Markkanen, Johannes; Martinez Navajas, Ignacio; Martins, Zita; Matsuoka, Ayako; Matyjasiak, Barbara; Mazelle, Christian; Mazzotta Epifani, Elena; Meier, Mirko; Michaelis, Harald; Micheli, Marco; Migliorini, Alessandra; Millet, Aude-Lyse; Moreno, Fernando; Mottola, Stefano; Moutounaick, Bruno; Muinonen, Karri; Müller, Daniel R; Murakami, Go; Murata, Naofumi; Myszka, Kamil; Nakajima, Shintaro; Nemeth, Zoltan; Nikolajev, Artiom; Nordera, Simone; Ohlsson, Dan; Olesk, Aire; Ottacher, Harald; Ozaki, Naoya; Oziol, Christophe; Patel, Manish; Savio Paul, Aditya; Penttilä, Antti; Pernechele, Claudio; Peterson, Joakim; Petraglio, Enrico; Piccirillo, Alice Maria; Plaschke, Ferdinand; Polak, Szymon; Postberg, Frank; Proosa, Herman; Protopapa, Silvia; Puccio, Walter; Ranvier, Sylvain; Raymond, Sean; Richter, Ingo; Rieder, Martin; Rigamonti, Roberto; Ruiz Rodriguez, Irene; Santolik, Ondrej; Sasaki, Takahiro; Schrödter, Rolf; Shirley, Katherine; Slavinskis, Andris; Sodor, Balint; Soucek, Jan; Stephenson, Peter; Stöckli, Linus; Szewczyk, Paweł; Troznai, Gabor; Uhlir, Ludek; Usami, Naoto; Valavanoglou, Aris; Vaverka, Jakub; Wang, Wei; Wang, Xiao-Dong; Wattieaux, Gaëtan; Wieser, Martin; Wolf, Sebastian; Yano, Hajime; Yoshikawa, Ichiro; Zakharov, Vladimir; Zawistowski, Tomasz; Zuppella, Paola; Rinaldi, Giovanna; Ji, Hantao