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

Leapfrogging with technology: introduction of a monitoring platform to support a large-scale Ebola vaccination program in Rwanda

利用技术实现跨越式发展:引入监测平台以支持卢旺达的大规模埃博拉疫苗接种计划

Mc Kenna, Paula; Masyn, Serge; Willems, Annik; De Paepe, Anne; Rutten, Romain; Mazarati, Jean Baptiste; Sayinzoga, Felix; Karita, Etienne; Nduwamungu, Jean Nepo; Mazzei, Amelia; Nyombayire, Julien; Ingabire, Rosine; Amponsah, Monica; Egoeh, Seth Gogo; Ezeanochie, Nnamdi

Zebrafish type I collagen mutants faithfully recapitulate human type I collagenopathies

斑马鱼I型胶原蛋白突变体忠实地重现了人类I型胶原蛋白病

Gistelinck, Charlotte; Kwon, Ronald Y; Malfait, Fransiska; Symoens, Sofie; Harris, Matthew P; Henke, Katrin; Hawkins, Michael B; Fisher, Shannon; Sips, Patrick; Guillemyn, Brecht; Bek, Jan Willem; Vermassen, Petra; De Saffel, Hanna; Witten, Paul Eckhard; Weis, MaryAnn; De Paepe, Anne; Eyre, David R; Willaert, Andy; Coucke, Paul J

Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures

先天性促性腺激素低下症和体质性生长发育和青春期延迟具有不同的遗传结构。

Cassatella, Daniele; Howard, Sasha R; Acierno, James S; Xu, Cheng; Papadakis, Georgios E; Santoni, Federico A; Dwyer, Andrew A; Santini, Sara; Sykiotis, Gerasimos P; Chambion, Caroline; Meylan, Jenny; Marino, Laura; Favre, Lucie; Li, Jiankang; Liu, Xuanzhu; Zhang, Jianguo; Bouloux, Pierre-Marc; Geyter, Christian De; Paepe, Anne De; Dhillo, Waljit S; Ferrara, Jean-Marc; Hauschild, Michael; Lang-Muritano, Mariarosaria; Lemke, Johannes R; Flück, Christa; Nemeth, Attila; Phan-Hug, Franziska; Pignatelli, Duarte; Popovic, Vera; Pekic, Sandra; Quinton, Richard; Szinnai, Gabor; l'Allemand, Dagmar; Konrad, Daniel; Sharif, Saba; Iyidir, Özlem Turhan; Stevenson, Brian J; Yang, Huanming; Dunkel, Leo; Pitteloud, Nelly

Pre- and post-testing counseling considerations for the provision of expanded carrier screening: exploration of European geneticists' views

扩大携带者筛查范围的检测前后咨询注意事项:欧洲遗传学家的观点探讨

Janssens, Sandra; Chokoshvili, Davit; Vears, Danya F; De Paepe, Anne; Borry, Pascal

Clinical utility gene card for: Hereditary thoracic aortic aneurysm and dissection including next-generation sequencing-based approaches

临床实用基因卡,适用于:遗传性胸主动脉瘤和夹层,包括基于下一代测序的方法

Arslan-Kirchner, Mine; Arbustini, Eloisa; Boileau, Catherine; Charron, Philippe; Child, Anne H; Collod-Beroud, Gwenaelle; De Backer, Julie; De Paepe, Anne; Dierking, Anna; Faivre, Laurence; Hoffjan, Sabine; Jondeau, Guillaume; Keyser, Britta; Loeys, Bart; Mayer, Karin; Robinson, Peter N; Schmidtke, Jörg

Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer

BRCA1和BRCA2基因突变类型及位置与乳腺癌和卵巢癌风险的关联

Rebbeck, Timothy R; Mitra, Nandita; Wan, Fei; Sinilnikova, Olga M; Healey, Sue; McGuffog, Lesley; Mazoyer, Sylvie; Chenevix-Trench, Georgia; Easton, Douglas F; Antoniou, Antonis C; Nathanson, Katherine L; Laitman, Yael; Kushnir, Anya; Paluch-Shimon, Shani; Berger, Raanan; Zidan, Jamal; Friedman, Eitan; Ehrencrona, Hans; Stenmark-Askmalm, Marie; Einbeigi, Zakaria; Loman, Niklas; Harbst, Katja; Rantala, Johanna; Melin, Beatrice; Huo, Dezheng; Olopade, Olufunmilayo I; Seldon, Joyce; Ganz, Patricia A; Nussbaum, Robert L; Chan, Salina B; Odunsi, Kunle; Gayther, Simon A; Domchek, Susan M; Arun, Banu K; Lu, Karen H; Mitchell, Gillian; Karlan, Beth Y; Walsh, Christine; Lester, Jenny; Godwin, Andrew K; Pathak, Harsh; Ross, Eric; Daly, Mary B; Whittemore, Alice S; John, Esther M; Miron, Alexander; Terry, Mary Beth; Chung, Wendy K; Goldgar, David E; Buys, Saundra S; Janavicius, Ramunas; Tihomirova, Laima; Tung, Nadine; Dorfling, Cecilia M; van Rensburg, Elizabeth J; Steele, Linda; Neuhausen, Susan L; Ding, Yuan Chun; Ejlertsen, Bent; Gerdes, Anne-Marie; Hansen, Thomas v O; Ramón y Cajal, Teresa; Osorio, Ana; Benitez, Javier; Godino, Javier; Tejada, Maria-Isabel; Duran, Mercedes; Weitzel, Jeffrey N; Bobolis, Kristie A; Sand, Sharon R; Fontaine, Annette; Savarese, Antonella; Pasini, Barbara; Peissel, Bernard; Bonanni, Bernardo; Zaffaroni, Daniela; Vignolo-Lutati, Francesca; Scuvera, Giulietta; Giannini, Giuseppe; Bernard, Loris; Genuardi, Maurizio; Radice, Paolo; Dolcetti, Riccardo; Manoukian, Siranoush; Pensotti, Valeria; Gismondi, Viviana; Yannoukakos, Drakoulis; Fostira, Florentia; Garber, Judy; Torres, Diana; Rashid, Muhammad Usman; Hamann, Ute; Peock, Susan; Frost, Debra; Platte, Radka; Evans, D Gareth; Eeles, Rosalind; Davidson, Rosemarie; Eccles, Diana; Cole, Trevor; Cook, Jackie; Brewer, Carole; Hodgson, Shirley; Morrison, Patrick J; Walker, Lisa; Porteous, Mary E; Kennedy, M John; Izatt, Louise; Adlard, Julian; Donaldson, Alan; Ellis, Steve; Sharma, Priyanka; Schmutzler, Rita Katharina; Wappenschmidt, Barbara; Becker, Alexandra; Rhiem, Kerstin; Hahnen, Eric; Engel, Christoph; Meindl, Alfons; Engert, Stefanie; Ditsch, Nina; Arnold, Norbert; Plendl, Hans Jörg; Mundhenke, Christoph; Niederacher, Dieter; Fleisch, Markus; Sutter, Christian; Bartram, C R; Dikow, Nicola; Wang-Gohrke, Shan; Gadzicki, Dorothea; Steinemann, Doris; Kast, Karin; Beer, Marit; Varon-Mateeva, Raymonda; Gehrig, Andrea; Weber, Bernhard H; Stoppa-Lyonnet, Dominique; Sinilnikova, Olga M; Mazoyer, Sylvie; Houdayer, Claude; Belotti, Muriel; Gauthier-Villars, Marion; Damiola, Francesca; Boutry-Kryza, Nadia; Lasset, Christine; Sobol, Hagay; Peyrat, Jean-Philippe; Muller, Danièle; Fricker, Jean-Pierre; Collonge-Rame, Marie-Agnès; Mortemousque, Isabelle; Nogues, Catherine; Rouleau, Etienne; Isaacs, Claudine; De Paepe, Anne; Poppe, Bruce; Claes, Kathleen; De Leeneer, Kim; Piedmonte, Marion; Rodriguez, Gustavo; Wakely, Katie; Boggess, John; Blank, Stephanie V; Basil, Jack; Azodi, Masoud; Phillips, Kelly-Anne; Caldes, Trinidad; de la Hoya, Miguel; Romero, Atocha; Nevanlinna, Heli; Aittomäki, Kristiina; van der Hout, Annemarie H; Hogervorst, Frans B L; Verhoef, Senno; Collée, J Margriet; Seynaeve, Caroline; Oosterwijk, Jan C; Gille, Johannes J P; Wijnen, Juul T; Gómez Garcia, Encarna B; Kets, Carolien M; Ausems, Margreet G E M; Aalfs, Cora M; Devilee, Peter; Mensenkamp, Arjen R; Kwong, Ava; Olah, Edith; Papp, Janos; Diez, Orland; Lazaro, Conxi; Darder, Esther; Blanco, Ignacio; Salinas, Mónica; Jakubowska, Anna; Lubinski, Jan; Gronwald, Jacek; Jaworska-Bieniek, Katarzyna; Durda, Katarzyna; Sukiennicki, Grzegorz; Huzarski, Tomasz; Byrski, Tomasz; Cybulski, Cezary; Toloczko-Grabarek, Aleksandra; Złowocka-Perłowska, Elżbieta; Menkiszak, Janusz; Arason, Adalgeir; Barkardottir, Rosa B; Simard, Jacques; Laframboise, Rachel; Montagna, Marco; Agata, Simona; Alducci, Elisa; Peixoto, Ana; Teixeira, Manuel R; Spurdle, Amanda B; Lee, Min Hyuk; Park, Sue K; Kim, Sung-Won; Friebel, Tara M; Couch, Fergus J; Lindor, Noralane M; Pankratz, Vernon S; Guidugli, Lucia; Wang, Xianshu; Tischkowitz, Marc; Foretova, Lenka; Vijai, Joseph; Offit, Kenneth; Robson, Mark; Rau-Murthy, Rohini; Kauff, Noah; Fink-Retter, Anneliese; Singer, Christian F; Rappaport, Christine; Gschwantler-Kaulich, Daphne; Pfeiler, Georg; Tea, Muy-Kheng; Berger, Andreas; Greene, Mark H; Mai, Phuong L; Imyanitov, Evgeny N; Toland, Amanda Ewart; Senter, Leigha; Bojesen, Anders; Pedersen, Inge Sokilde; Skytte, Anne-Bine; Sunde, Lone; Thomassen, Mads; Moeller, Sanne Traasdahl; Kruse, Torben A; Jensen, Uffe Birk; Caligo, Maria Adelaide; Aretini, Paolo; Teo, Soo-Hwang; Selkirk, Christina G; Hulick, Peter J; Andrulis, Irene

Gene panel sequencing in heritable thoracic aortic disorders and related entities - results of comprehensive testing in a cohort of 264 patients

遗传性胸主动脉疾病及相关疾病的基因组测序——264例患者队列的综合检测结果

Campens, Laurence; Callewaert, Bert; Muiño Mosquera, Laura; Renard, Marjolijn; Symoens, Sofie; De Paepe, Anne; Coucke, Paul; De Backer, Julie

Design and rationale of a prospective, collaborative meta-analysis of all randomized controlled trials of angiotensin receptor antagonists in Marfan syndrome, based on individual patient data: A report from the Marfan Treatment Trialists' Collaboration

基于个体患者数据,对马凡综合征所有血管紧张素受体拮抗剂随机对照试验进行前瞻性合作荟萃分析的设计和原理:马凡治疗试验协作组的报告

Pitcher, Alex; Emberson, Jonathan; Lacro, Ronald V; Sleeper, Lynn A; Stylianou, Mario; Mahony, Lynn; Pearson, Gail D; Groenink, Maarten; Mulder, Barbara J; Zwinderman, Aeilko H; De Backer, Julie; De Paepe, Anne M; Arbustini, Eloisa; Erdem, Guliz; Jin, Xu Yu; Flather, Marcus D; Mullen, Michael J; Child, Anne H; Forteza, Alberto; Evangelista, Arturo; Chiu, Hsin-Hui; Wu, Mei-Hwan; Sandor, George; Bhatt, Ami B; Creager, Mark A; Devereux, Richard B; Loeys, Bart; Forfar, J Colin; Neubauer, Stefan; Watkins, Hugh; Boileau, Catherine; Jondeau, Guillaume; Dietz, Harry C; Baigent, Colin

Occipital horn syndrome and classical Menkes Syndrome caused by deep intronic mutations, leading to the activation of ATP7A pseudo-exon

枕角综合征和经典门克斯综合征是由深内含子突变引起的,导致ATP7A假外显子激活。

Yasmeen, Saiqa; Lund, Katrine; De Paepe, Anne; De Bie, Sylvia; Heiberg, Arvid; Silva, João; Martins, Márcia; Skjørringe, Tina; Møller, Lisbeth B

Integrative genomic and transcriptomic analysis identified candidate genes implicated in the pathogenesis of hepatosplenic T-cell lymphoma

综合基因组学和转录组学分析确定了与肝脾 T 细胞淋巴瘤发病机制有关的候选基因

Julio Finalet Ferreiro, Leila Rouhigharabaei, Helena Urbankova, Jo-Anne van der Krogt, Lucienne Michaux, Shashirekha Shetty, Laszlo Krenacs, Thomas Tousseyn, Pascale De Paepe, Anne Uyttebroeck, Gregor Verhoef, Tom Taghon, Peter Vandenberghe, Jan Cools, Iwona Wlodarska