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

Atrial Fibrillation and Primary Cilia-Associated Genes: The Role of CEP68

心房颤动与原纤毛相关基因:CEP68 的作用

Dong, Zhenyu; Al-Shama, Rushd F M; van den Berg, Nicoline W E; Kawasaki, Makiri; Terpstra, Marc M; Arrarte Terreros, Nerea; Hulsman, Elise L; Jongejan, Aldo; Arora, Rishi A; van Boven, Wim Jan P; Driessen, Antoine H G; Bezzina, Connie R; Jurgens, Sean J; de Groot, Joris R

Discovery of cerebrospinal fluid biomarkers for different dementias using mass spectrometry-based proteomics

利用基于质谱的蛋白质组学发现不同痴呆症的脑脊液生物标志物

Stokkel, Marijke E; Vermunt, Lisa; Knol, Jaco C; Chiasserini, Davide; Parnetti, Lucilla; Piersma, Sander R; Pham, Thang V; de Goeij-de Haas, Richard R; Lemstra, Afina W; Pijnenburg, Yolande A L; Visser, Pieter J; Tijms, Betty M; Teunissen, Charlotte E; Jimenez, Connie R

Reduced Versus Oxidized NAD(+) Precursors Drive Distinct Transcriptomic, Proteomic, and Metabolic Profiles in Hepatocytes

还原型与氧化型 NAD(+) 前体驱动肝细胞中不同的转录组、蛋白质组和代谢谱

Vinten, Kasper T; Schomakers, Bauke V; Denis, Simone; van Weeghel, Michel; Jongejan, Aldo; Ofman, Rob; Piersma, Sander R; Jimenez, Connie R; Janssens, Georges E; Zapata-Pérez, Rubén; Houtkooper, Riekelt H

Contemporary Perspectives on J-Wave Syndromes: An Expert Consensus Statement

J波综合征的当代观点:专家共识声明

Nademanee, Koonlawee; Wilde, Arthur A; Ackerman, Michael J; R Behr, Elijah; Bezzina, Connie R; Chen, Peng-Sheng; Chung, Fa Po; Coronel, Ruben; Haissaguerre, Michel; Jiang, Chenyang; Juang, Jyh-Ming Jimmy; Khongphatthanayothin, Apichai; Makita, Naomasa; Morita, Hiroshi; Nakagawa, Hiroshi; Ngarmukos, Tachapong; Nogami, Akihiko; Pappone, Carlo; Priori, Silvia G; Rosso, Raphael; Shimizu, Wataru; Veerakul, Gumpanart; Viskin, Sami

A resource of "bottom-line" variant associations for 1,281 complex traits by integrating data across published genome-wide association studies

通过整合已发表的全基因组关联研究数据,我们获得了1281个复杂性状的“最终”变异关联资源。

Nguyen, Trang; Büyükgöl, Furkan; Smadbeck, Patrick; Massung, Jeffrey; Costanzo, Maria C; Ruiz, Monica; Dornbos, Peter; Yoshiji, Satoshi; Koesterer, Ryan; Nguyen, Thanh Long; Jang, Dongkeun; Hoang, Quy; Ji, Yue; McMahon, Aoife; Sengupta, Sebanti; Yin, Xianyong; Ryan, Brady; Welch, Ryan P; Treur, Jorien; Bezzina, Connie R; Abecasis, Goncalo; Boehnke, Michael; Burtt, Noël P; Flannick, Jason

DNA methylation analysis of NOTCH1 variants reveals the first episignature for non-syndromic congenital heart defects

NOTCH1 变异体的 DNA 甲基化分析揭示了非综合征型先天性心脏缺陷的首个表观遗传特征

Dombrowsky, Gregor; van der Laan, Liselot; Silva, Ananília; Breckpot, Jeroen; Audain, Enrique; Wilsdon, Anna; Levy, Michael A; Vos, Niels; Mannens, Marcel; Wang, Jiao; Jain, Anjali; Lesurf, Robert; Winlaw, David; Bezzina, Connie R; Thomas, Mary Ann; Caliebe, Almuth; Klaassen, Sabine; Berger, Felix; Dittrich, Sven; Stiller, Brigitte; Abdul-Khaliq, Hashim; Dähnert, Ingo; Bu'Lock, Frances; Loughna, Siobhan; Brook, J David; Mital, Seema; Russell, Robert B; Pickardt, Thomas; Bauer, Ulrike; Kramer, Hans-Heiner; Uebing, Anselm; Henneman, Peter; Sadikovic, Bekim; Postma, Alex; Hitz, Marc-Phillip

Leveraging the shared and opposing genetic mechanisms in the heritable cardiomyopathies

利用遗传性心肌病中共同的和相反的遗传机制

Kramarenko, Daria R; Haydarlou, Poeya; Powell, George J; Rämö, Joel T; Janan, Riyad; Prince, Claire; Zimmerman, Dominic S; Theotokis, Pantazis; Thami, Prisca K; Haas, Jan; Garnier, Sophie; Rühle, Frank; Poel, Edwin; Schmidt, Amand F; Day, Sharlene; Helms, Adam; Lampert, Rachel; Parikh, Victoria; Ingles, Jodie; Olivotto, Iacopo; Lakdawala, Neal; Owens, Anjali; Saberi, Sara; Stendhal, John; Ashley, Euan; Gray, Belinda; Russell, Mark W; Ryan, Thomas D; Rossano, Joseph W; Abrams, Dominic; Miller, Erin; Lin, Kimberly; Maurizi, Niccolo; Argiro, Alessia; Berry, Colin; Cooper, Rob; Flett, Andrew S; Gardner, Roy S; Greenwood, John P; Halliday, Brian P; Hutchings, David; Mahmod, Masliza; McCann, Gerry P; Page, Stephen P; Peebles, Charles; Raman, Betty; Swoboda, Peter; Varnava, Amanda; Wright, David; Prasad, Sanjay; Cook, Stuart; Tayal, Upsala Paz; Buchan, Rachel; Walsh, Roddy; Wilde, Arthur A M; Meder, Benjamin; Charron, Philippe; Goel, Anuj; Amin, Ahmad S; Ellinor, Patrick T; Aragam, Krishna G; Tadros, Rafik; Pinto, Yigal M; Ho, Carolyn Y; Watkins, Hugh; Ware, James S; Bezzina, Connie R; Jurgens, Sean J

Genetic modifiers and ascertainment drive variable expressivity of complex disorders

遗传修饰因子和检测结果驱动复杂疾病的变异性表达

Jensen, Matthew; Smolen, Corrine; Tyryshkina, Anastasia; Pizzo, Lucilla; Sun, Jiawan; Noss, Serena; Banerjee, Deepro; Oetjens, Matthew; Shimelis, Hermela; Taylor, Cora M; Pounraja, Vijay Kumar; Song, Hyebin; Rohan, Laura; Huber, Emily; El Khattabi, Laila; van de Laar, Ingrid; Tadros, Rafik; Bezzina, Connie R; van Slegtenhorst, Marjon; Kammeraad, Janneke; Prontera, Paolo; Caberg, Jean-Hubert; Fraser, Harry; Banka, Siddharth; Van Dijck, Anke; Schwartz, Charles; Voorhoeve, Els; Callier, Patrick; Mosca-Boidron, Anne-Laure; Marle, Nathalie; Lefebvre, Mathilde; Pope, Kate; Snell, Penny; Boys, Amber; Lockhart, Paul J; Ashfaq, Myla; McCready, Elizabeth; Nowacyzk, Margaret; Castiglia, Lucia; Galesi, Ornella; Avola, Emanuela; Mattina, Teresa; Fichera, Marco; Bruccheri, Maria Grazia; Mandarà, Giuseppa Maria Luana; Mari, Francesca; Privitera, Flavia; Longo, Ilaria; Curró, Aurora; Renieri, Alessandra; Keren, Boris; Charles, Perrine; Cuinat, Silvestre; Nizon, Mathilde; Pichon, Olivier; Bénéteau, Claire; Stoeva, Radka; Martin-Coignard, Dominique; Blesson, Sophia; Le Caignec, Cedric; Mercier, Sandra; Vincent, Marie; Martin, Christa L; Mannik, Katrin; Reymond, Alexandre; Faivre, Laurence; Sistermans, Erik; Kooy, R Frank; Amor, David J; Romano, Corrado; Andrieux, Joris; Girirajan, Santhosh

A Rare Noncoding Enhancer Variant in SCN5A Contributes to the High Prevalence of Brugada Syndrome in Thailand

泰国SCN5A基因中一种罕见的非编码增强子变异导致布鲁加达综合征高发

Walsh, Roddy; Mauleekoonphairoj, John; Mengarelli, Isabella; Bosada, Fernanda M; Verkerk, Arie O; van Duijvenboden, Karel; Poovorawan, Yong; Wongcharoen, Wanwarang; Sutjaporn, Boosamas; Wandee, Pharawee; Chimparlee, Nitinan; Chokesuwattanaskul, Ronpichai; Vongpaisarnsin, Kornkiat; Dangkao, Piyawan; Wu, Cheng-I; Tadros, Rafik; Amin, Ahmad S; Lieve, Krystien V V; Postema, Pieter G; Kooyman, Maarten; Beekman, Leander; Sahasatas, Dujdao; Amnueypol, Montawatt; Krittayaphong, Rungroj; Prechawat, Somchai; Anannab, Alisara; Makarawate, Pattarapong; Ngarmukos, Tachapong; Phusanti, Keerapa; Veerakul, Gumpanart; Kingsbury, Zoya; Newington, Taksina; Maheswari, Uma; Ross, Mark T; Grace, Andrew; Lambiase, Pier D; Behr, Elijah R; Schott, Jean-Jacques; Redon, Richard; Barc, Julien; Christoffels, Vincent M; Wilde, Arthur A M; Nademanee, Koonlawee; Bezzina, Connie R; Khongphatthanayothin, Apichai

Automated patch clamp data improve variant classification and penetrance stratification for SCN5A-Brugada syndrome

自动化膜片钳数据可提高SCN5A-布鲁加达综合征的变异分类和外显率分层。

O'Neill, Matthew J; Ma, Joanne G; Aldridge, Jessa L; Solus, Joseph F; Harvey, Genevieve R; Roberson, Paige H; Barc, Julien; Bezzina, Connie R; Roden, Dan M; Walsh, Roddy; Vandenberg, Jamie I; Glazer, Andrew M; Ng, Chai-Ann