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

Nanopore Long-Read Sequencing as a First-Tier Diagnostic Test to Detect Repeat Expansions in Neurological Disorders.

纳米孔长读长测序作为检测神经系统疾病中重复序列扩增的一线诊断测试

de Boer Eddy N, Scheper Arjen J, Hendriksen Dennis, Charbon Bart, van der Vries Gerben, Ten Berge Annelies M, Grootscholten Petra M, Lemmink Henny H, Jongbloed Jan D H, Bosscher Laura, Knoers Nine V A M, Swertz Morris A, Sikkema-Raddatz Birgit, Dijkstra Dorieke J, Johansson Lennart F, van Diemen Cleo C

Systemic barriers and opportunities for equity in early implementation of genetic testing and counseling for cardiomyopathies in Tanzania

坦桑尼亚在早期实施心肌病基因检测和咨询方面存在的系统性障碍和公平机遇

Alimohamed, Mohamed Zahir; Kiula, Abdilahi; Fundikira, Lulu; Letara, Nuru; Mayala, Henry; Sijmons, Rolf; Jongbloed, Jan D H; Hershberger, Ray E; Williams, Scott M; Asselbergs, Folkert W; Chillo, Pilly

Titin-related familial dilated cardiomyopathy: factors associated with disease onset

肌联蛋白相关家族性扩张型心肌病:与疾病发病相关的因素

Johnson, Renee; Fletcher, Robert A; Peters, Stacey; Ohanian, Monique; Soka, Magdalena; Smolnikov, Andrei; Abihider, Katherine E; Ackerman, Michael J; Ader, Flavie; Akhtar, Mohammed M; Amin, Ahmad S; Ashley, Euan A; Atherton, John J; Austin, Rachel; Baas, Annette F; Bagnall, Richard D; Ross, Samantha Barratt; Blouin, Jean-Louis; Brown, Emily E; Bundgaard, Henning; Cannie, Douglas; Chmielewski, Przemyslaw; Correnti, Gemma; Crespo-Leiro, Maria Generosa; Dal Ferro, Matteo; Dellefave-Castillo, Lisa M; Dominguez, Fernando; Dooijes, Dennis; Dybro, Anne M; Ed Demri, Youssef; El Hachmi, Mohamed; Escobar-Lopez, Luis; Foye, Sarah Jajesnica; Franaszczyk, Maria; Gigli, Marta; Lopez, Esther Gonzalez; Goudal, Adeline; Graw, Sharon; Guipponi, Michel; Haan, Eric; Haas, Jan; Hammersley, Daniel J; Hansen, Frederikke G; Hayward, Christopher S; Hey, Thomas Morris; Heymans, Stephane; Ho, Carolyn Y; Houweling, Arjan C; Ingles, Jodie; Ingrey, Angela; Jabbour, Andrew; James, Paul A; Jansweijer, Joeri A; Jongbloed, Jan D H; Keogh, Anne M; Larrañaga-Moreira, Jose M; Lekanne Deprez, Ronald H; Macciocca, Ivan; Macdonald, Peter S; Mansencal, Nicolas; Mansour, Julia; Martinez-Veira, Cristina; McDonough, Barbara; McGaughran, Julie; Medo, Kristen; Merlo, Marco; Michalak, Ewa; Monserrat, Lorenzo; Mountain, Helen; Muller, Steven A; Murphy, Anne M; Murray, Brittney; Oates, Emily C; Ormondroyd, Elizabeth; Pachter, Nicholas; Paldino, Alessia; Palmyre, Aurélien; Pereira, Naveen L; Picard, Kermshlise C; Poplawski, Nicola; Prasad, Sanjay; Proukhnitzky, Julie; Pruny, Jean-Francois; Reant, Patricia; Richard, Pascale; Ronan, Anne; Sedaghat-Hamedani, Farbod; Semsarian, Christopher; Storm, Garrett; Stroeks, Sophie; Syrris, Petros; Taylor, Matthew R G; Thomson, Kate; Thompson, Tina; van Tintelen, J Peter; Vissing, Christoffer Rasmus; Waddell-Smith, Kathryn E; Wallis, Mathew; Zentner, Dominica; Arnott, Clare; Marian, Ali J; Oh, Jaewon; Fokstuen, Siv; James, Cynthia A; Barriales-Villa, Roberto; Meder, Benjamin; Wahbi, Karim; Giudicessi, John R; Parikh, Victoria N; Ware, James S; Piriou, Nicolas; Rooryck, Caroline; Lakdawala, Neal K; Mestroni, Luisa; Sinagra, Gianfranco; Elliott, Perry M; Watkins, Hugh; McNally, Elizabeth M; Charron, Philippe; van Spaendonck-Zwarts, Karin Y; Garcia-Pavia, Pablo; Peña-Peña, Maria Luisa; Mogensen, Jens; Christensen, Alex Hoerby; Bilińska, Zofia T; Rasmussen, Torsten B; Seidman, Jonathan G; Seidman, Christine E; Te Riele, Anneline S J M; Verdonschot, Job A J; Pinto, Yigal M; Christiaans, Imke; Fatkin, Diane

Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin (DSP) Truncating Variant

变异位点是导致致心律失常性心肌病患者的新型风险因素,该病由桥粒蛋白(DSP)截断变异引起

Hoorntje, Edgar T; Burns, Charlotte; Marsili, Luisa; Corden, Ben; Parikh, Victoria N; Te Meerman, Gerard J; Gray, Belinda; Adiyaman, Ahmet; Bagnall, Richard D; Barge-Schaapveld, Daniela Q C M; van den Berg, Maarten P; Bootsma, Marianne; Bosman, Laurens P; Correnti, Gemma; Duflou, Johan; Eppinga, Ruben N; Fatkin, Diane; Fietz, Michael; Haan, Eric; Jongbloed, Jan D H; Hauer, Arnaud D; Lam, Lien; van Lint, Freyja H M; Lota, Amrit; Marcelis, Carlo; McCarthy, Hugh J; van Mil, Anneke M; Oldenburg, Rogier A; Pachter, Nicholas; Planken, R Nils; Reuter, Chloe; Semsarian, Christopher; van der Smagt, Jasper J; Thompson, Tina; Vohra, Jitendra; Volders, Paul G A; van Waning, Jaap I; Whiffin, Nicola; van den Wijngaard, Arthur; Amin, Ahmad S; Wilde, Arthur A M; van Woerden, Gijs; Yeates, Laura; Zentner, Dominica; Ashley, Euan A; Wheeler, Matthew T; Ware, James S; van Tintelen, J Peter; Ingles, Jodie

Untargeted Metabolomics Identifies Potential Hypertrophic Cardiomyopathy Biomarkers in Carriers of MYBPC3 Founder Variants

非靶向代谢组学鉴定MYBPC3创始变异携带者中潜在的肥厚型心肌病生物标志物

Jansen, Mark; Schuldt, Maike; van Driel, Beau O; Schmidt, Amand F; Christiaans, Imke; van der Crabben, Saskia N; Hoedemaekers, Yvonne M; Dooijes, Dennis; Jongbloed, Jan D H; Boven, Ludolf G; Deprez, Ronald H Lekanne; Wilde, Arthur A M; Jans, Judith J M; van der Velden, Jolanda; de Boer, Rudolf A; van Tintelen, J Peter; Asselbergs, Folkert W; Baas, Annette F

Phenotypic and Genetic Factors Associated with Absence of Cardiomyopathy Symptoms in PLN:c.40_42delAGA Carriers

PLN:c.40_42delAGA 携带者无心肌病症状的表型和遗传因素

Lopera-Maya, Esteban A; Li, Shuang; de Brouwer, Remco; Nolte, Ilja M; van Breen, Justin; Jongbloed, Jan D H; Swertz, Morris A; Snieder, Harold; Franke, Lude; Wijmenga, Cisca; de Boer, Rudolf A; Deelen, Patrick; van der Zwaag, Paul A; Sanna, Serena

MYH7 p.(Arg1712Gln) is pathogenic founder variant causing hypertrophic cardiomyopathy with overall relatively delayed onset

MYH7 p.(Arg1712Gln) 是一种致病性创始变异,可导致肥厚型心肌病,但总体发病时间相对较晚。

Marsili, Luisa; van Lint, Freyja H M; Russo, Francesco; van Spaendonck-Zwarts, Karin Y; Ader, Flavie; Bichon, Marie-Line; Faivre, Laurence; Houweling, Arjan C; Isidor, Bertrand; Lekanne Deprez, Ronald H; Cox, Moniek G P J; Wilde, Arthur A M; Mazel, Benoit; Mercier, Sandra; Dooijes, Dennis; Millat, Gilles; Nguyen, Karine; Post, Jan G; Richard, Pascale; van de Beek, Irma; Vermeer, Alexa M C; Boven, Ludolf; Jongbloed, Jan D H; van Tintelen, J Peter

A new prediction model for ventricular arrhythmias in arrhythmogenic right ventricular cardiomyopathy

心律失常性右室心肌病室性心律失常的新预测模型

Cadrin-Tourigny, Julia; Bosman, Laurens P; Nozza, Anna; Wang, Weijia; Tadros, Rafik; Bhonsale, Aditya; Bourfiss, Mimount; Fortier, Annik; Lie, Øyvind H; Saguner, Ardan M; Svensson, Anneli; Andorin, Antoine; Tichnell, Crystal; Murray, Brittney; Zeppenfeld, Katja; van den Berg, Maarten P; Asselbergs, Folkert W; Wilde, Arthur A M; Krahn, Andrew D; Talajic, Mario; Rivard, Lena; Chelko, Stephen; Zimmerman, Stefan L; Kamel, Ihab R; Crosson, Jane E; Judge, Daniel P; Yap, Sing Chien; van der Heijden, Jeroen F; Tandri, Harikrishna; Jongbloed, Jan D H; Guertin, Marie Claude; van Tintelen, J Peter; Platonov, Pyotr G; Duru, Firat; Haugaa, Kristina H; Khairy, Paul; Hauer, Richard N W; Calkins, Hugh; Te Riele, Anneline S J M; James, Cynthia A

KBTBD13 is a novel cardiomyopathy gene

KBTBD13 是一种新型心肌病基因

de Winter, Josine M; Bouman, Karlijn; Strom, Joshua; Methawasin, Mei; Jongbloed, Jan D H; van der Roest, Wilma; Wijngaarden, Jan van; Timmermans, Janneke; Nijveldt, Robin; van den Heuvel, Frederik; Kamsteeg, Erik-Jan; van Engelen, Baziel G; Galli, Ricardo; Bogaards, Sylvia J P; Boon, Reinier A; van der Pijl, Robbert J; Granzier, Henk; Koeleman, Bobby; Amin, Ahmad S; van der Velden, Jolanda; van Tintelen, J Peter; van den Berg, Maarten P; van Spaendonck-Zwarts, Karin Y; Voermans, Nicol C; Ottenheijm, Coen A C

Functional investigation of two simultaneous or separately segregating DSP variants within a single family supports the theory of a dose-dependent disease severity

对同一家族中两种同时或分别分离的DSP变异体进行功能研究,支持了剂量依赖性疾病严重程度的理论。

Vermeer, Mathilde C S C; Andrei, Daniela; Kramer, Duco; Nijenhuis, Albertine M; Hoedemaekers, Yvonne M; Westers, Helga; Jongbloed, Jan D H; Pas, Hendri H; van den Berg, Maarten P; Silljé, Herman H W; van der Meer, Peter; Bolling, Maria C