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

Functional and clinical insights into nuclear receptor variants for advancing precision diagnostics in male infertility.

核受体变异体的功能和临床见解,以推进男性不育症的精准诊断

Gaikwad Avinash S, Wyrwoll Margot J, Koser Sophie A, Emich Jana, Kuß Johanna, Aravina Mariya, Krallmann Claudia, Gromoll Jörg, Kliesch Sabine, Laurentino Sandra, Stallmeyer Birgit, Friedrich Corinna, Tüttelmann Frank

How exome sequencing improves the diagnostics and management of men with non-syndromic infertility

外显子组测序如何改善非综合征性不育男性的诊断和治疗

Stallmeyer, Birgit; Dicke, Ann-Kristin; Tüttelmann, Frank

DDX3Y is likely the key spermatogenic factor in the AZFa region that contributes to human non-obstructive azoospermia

DDX3Y可能是AZFa区域中导致人类非梗阻性无精子症的关键生精因子。

Dicke, Ann-Kristin; Pilatz, Adrian; Wyrwoll, Margot J; Punab, Margus; Ruckert, Christian; Nagirnaja, Liina; Aston, Kenneth I; Conrad, Donald F; Di Persio, Sara; Neuhaus, Nina; Fietz, Daniela; Laan, Maris; Stallmeyer, Birgit; Tüttelmann, Frank

Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility

全基因组关联分析发现了新的布鲁加达综合征风险位点,并揭示了钠通道调控在疾病易感性中的新机制。

Barc, Julien; Tadros, Rafik; Glinge, Charlotte; Chiang, David Y; Jouni, Mariam; Simonet, Floriane; Jurgens, Sean J; Baudic, Manon; Nicastro, Michele; Potet, Franck; Offerhaus, Joost A; Walsh, Roddy; Choi, Seung Hoan; Verkerk, Arie O; Mizusawa, Yuka; Anys, Soraya; Minois, Damien; Arnaud, Marine; Duchateau, Josselin; Wijeyeratne, Yanushi D; Muir, Alison; Papadakis, Michael; Castelletti, Silvia; Torchio, Margherita; Ortuño, Cristina Gil; Lacunza, Javier; Giachino, Daniela F; Cerrato, Natascia; Martins, Raphaël P; Campuzano, Oscar; Van Dooren, Sonia; Thollet, Aurélie; Kyndt, Florence; Mazzanti, Andrea; Clémenty, Nicolas; Bisson, Arnaud; Corveleyn, Anniek; Stallmeyer, Birgit; Dittmann, Sven; Saenen, Johan; Noël, Antoine; Honarbakhsh, Shohreh; Rudic, Boris; Marzak, Halim; Rowe, Matthew K; Federspiel, Claire; Le Page, Sophie; Placide, Leslie; Milhem, Antoine; Barajas-Martinez, Hector; Beckmann, Britt-Maria; Krapels, Ingrid P; Steinfurt, Johannes; Winkel, Bo Gregers; Jabbari, Reza; Shoemaker, Moore B; Boukens, Bas J; Škorić-Milosavljević, Doris; Bikker, Hennie; Manevy, Federico; Lichtner, Peter; Ribasés, Marta; Meitinger, Thomas; Müller-Nurasyid, Martina; Veldink, Jan H; van den Berg, Leonard H; Van Damme, Philip; Cusi, Daniele; Lanzani, Chiara; Rigade, Sidwell; Charpentier, Eric; Baron, Estelle; Bonnaud, Stéphanie; Lecointe, Simon; Donnart, Audrey; Le Marec, Hervé; Chatel, Stéphanie; Karakachoff, Matilde; Bézieau, Stéphane; London, Barry; Tfelt-Hansen, Jacob; Roden, Dan; Odening, Katja E; Cerrone, Marina; Chinitz, Larry A; Volders, Paul G; van de Berg, Maarten P; Laurent, Gabriel; Faivre, Laurence; Antzelevitch, Charles; Kääb, Stefan; Arnaout, Alain Al; Dupuis, Jean-Marc; Pasquie, Jean-Luc; Billon, Olivier; Roberts, Jason D; Jesel, Laurence; Borggrefe, Martin; Lambiase, Pier D; Mansourati, Jacques; Loeys, Bart; Leenhardt, Antoine; Guicheney, Pascale; Maury, Philippe; Schulze-Bahr, Eric; Robyns, Tomas; Breckpot, Jeroen; Babuty, Dominique; Priori, Silvia G; Napolitano, Carlo; de Asmundis, Carlo; Brugada, Pedro; Brugada, Ramon; Arbelo, Elena; Brugada, Josep; Mabo, Philippe; Behar, Nathalie; Giustetto, Carla; Molina, Maria Sabater; Gimeno, Juan R; Hasdemir, Can; Schwartz, Peter J; Crotti, Lia; McKeown, Pascal P; Sharma, Sanjay; Behr, Elijah R; Haissaguerre, Michel; Sacher, Frédéric; Rooryck, Caroline; Tan, Hanno L; Remme, Carol A; Postema, Pieter G; Delmar, Mario; Ellinor, Patrick T; Lubitz, Steven A; Gourraud, Jean-Baptiste; Tanck, Michael W; George, Alfred L Jr; MacRae, Calum A; Burridge, Paul W; Dina, Christian; Probst, Vincent; Wilde, Arthur A; Schott, Jean-Jacques; Redon, Richard; Bezzina, Connie R

Whole Exome Sequencing Identifies a Heterozygous Variant in the Cav1.3 Gene CACNA1D Associated with Familial Sinus Node Dysfunction and Focal Idiopathic Epilepsy

全外显子组测序发现Cav1.3基因CACNA1D中的杂合变异与家族性窦房结功能障碍和局灶性特发性癫痫相关

Rinné, Susanne; Stallmeyer, Birgit; Pinggera, Alexandra; Netter, Michael F; Matschke, Lina A; Dittmann, Sven; Kirchhefer, Uwe; Neudorf, Ulrich; Opp, Joachim; Striessnig, Jörg; Decher, Niels; Schulze-Bahr, Eric

Non-syndromal mitral valve prolapse (MVP): a common entity, but not commonly associated with DCHS1 or FLNA mutations

非综合征性二尖瓣脱垂(MVP):一种常见疾病,但通常与DCHS1或FLNA基因突变无关。

Uphoff, Katharina; Dittmann, Sven; Ott, Patricia; Stallmeyer, Birgit; Schulze-Bahr, Eric

Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls

通过对联盟疾病队列和人群对照进行定量分析,增强对遗传性心律失常中罕见变异的解读。

Walsh, Roddy; Lahrouchi, Najim; Tadros, Rafik; Kyndt, Florence; Glinge, Charlotte; Postema, Pieter G; Amin, Ahmad S; Nannenberg, Eline A; Ware, James S; Whiffin, Nicola; Mazzarotto, Francesco; Škorić-Milosavljević, Doris; Krijger, Christian; Arbelo, Elena; Babuty, Dominique; Barajas-Martinez, Hector; Beckmann, Britt M; Bézieau, Stéphane; Bos, J Martijn; Breckpot, Jeroen; Campuzano, Oscar; Castelletti, Silvia; Celen, Candan; Clauss, Sebastian; Corveleyn, Anniek; Crotti, Lia; Dagradi, Federica; de Asmundis, Carlo; Denjoy, Isabelle; Dittmann, Sven; Ellinor, Patrick T; Ortuño, Cristina Gil; Giustetto, Carla; Gourraud, Jean-Baptiste; Hazeki, Daisuke; Horie, Minoru; Ishikawa, Taisuke; Itoh, Hideki; Kaneko, Yoshiaki; Kanters, Jørgen K; Kimoto, Hiroki; Kotta, Maria-Christina; Krapels, Ingrid P C; Kurabayashi, Masahiko; Lazarte, Julieta; Leenhardt, Antoine; Loeys, Bart L; Lundin, Catarina; Makiyama, Takeru; Mansourati, Jacques; Martins, Raphaël P; Mazzanti, Andrea; Mörner, Stellan; Napolitano, Carlo; Ohkubo, Kimie; Papadakis, Michael; Rudic, Boris; Molina, Maria Sabater; Sacher, Frédéric; Sahin, Hatice; Sarquella-Brugada, Georgia; Sebastiano, Regina; Sharma, Sanjay; Sheppard, Mary N; Shimamoto, Keiko; Shoemaker, M Benjamin; Stallmeyer, Birgit; Steinfurt, Johannes; Tanaka, Yuji; Tester, David J; Usuda, Keisuke; van der Zwaag, Paul A; Van Dooren, Sonia; Van Laer, Lut; Winbo, Annika; Winkel, Bo G; Yamagata, Kenichiro; Zumhagen, Sven; Volders, Paul G A; Lubitz, Steven A; Antzelevitch, Charles; Platonov, Pyotr G; Odening, Katja E; Roden, Dan M; Roberts, Jason D; Skinner, Jonathan R; Tfelt-Hansen, Jacob; van den Berg, Maarten P; Olesen, Morten S; Lambiase, Pier D; Borggrefe, Martin; Hayashi, Kenshi; Rydberg, Annika; Nakajima, Tadashi; Yoshinaga, Masao; Saenen, Johan B; Kääb, Stefan; Brugada, Pedro; Robyns, Tomas; Giachino, Daniela F; Ackerman, Michael J; Brugada, Ramon; Brugada, Josep; Gimeno, Juan R; Hasdemir, Can; Guicheney, Pascale; Priori, Silvia G; Schulze-Bahr, Eric; Makita, Naomasa; Schwartz, Peter J; Shimizu, Wataru; Aiba, Takeshi; Schott, Jean-Jacques; Redon, Richard; Ohno, Seiko; Probst, Vincent; Behr, Elijah R; Barc, Julien; Bezzina, Connie R

An International Multicenter Evaluation of Type 5 Long QT Syndrome: A Low Penetrant Primary Arrhythmic Condition

一项针对5型长QT间期综合征的国际多中心评估:一种低外显率的原发性心律失常疾病

Roberts, Jason D; Asaki, S Yukiko; Mazzanti, Andrea; Bos, J Martijn; Tuleta, Izabela; Muir, Alison R; Crotti, Lia; Krahn, Andrew D; Kutyifa, Valentina; Shoemaker, M Benjamin; Johnsrude, Christopher L; Aiba, Takeshi; Marcondes, Luciana; Baban, Anwar; Udupa, Sharmila; Dechert, Brynn; Fischbach, Peter; Knight, Linda M; Vittinghoff, Eric; Kukavica, Deni; Stallmeyer, Birgit; Giudicessi, John R; Spazzolini, Carla; Shimamoto, Keiko; Tadros, Rafik; Cadrin-Tourigny, Julia; Duff, Henry J; Simpson, Christopher S; Roston, Thomas M; Wijeyeratne, Yanushi D; El Hajjaji, Imane; Yousif, Maisoon D; Gula, Lorne J; Leong-Sit, Peter; Chavali, Nikhil; Landstrom, Andrew P; Marcus, Gregory M; Dittmann, Sven; Wilde, Arthur A M; Behr, Elijah R; Tfelt-Hansen, Jacob; Scheinman, Melvin M; Perez, Marco V; Kaski, Juan Pablo; Gow, Robert M; Drago, Fabrizio; Aziz, Peter F; Abrams, Dominic J; Gollob, Michael H; Skinner, Jonathan R; Shimizu, Wataru; Kaufman, Elizabeth S; Roden, Dan M; Zareba, Wojciech; Schwartz, Peter J; Schulze-Bahr, Eric; Etheridge, Susan P; Priori, Silvia G; Ackerman, Michael J

Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome

跨种族全基因组关联研究揭示长QT综合征的遗传结构和遗传性

Lahrouchi, Najim; Tadros, Rafik; Crotti, Lia; Mizusawa, Yuka; Postema, Pieter G; Beekman, Leander; Walsh, Roddy; Hasegawa, Kanae; Barc, Julien; Ernsting, Marko; Turkowski, Kari L; Mazzanti, Andrea; Beckmann, Britt M; Shimamoto, Keiko; Diamant, Ulla-Britt; Wijeyeratne, Yanushi D; Kucho, Yu; Robyns, Tomas; Ishikawa, Taisuke; Arbelo, Elena; Christiansen, Michael; Winbo, Annika; Jabbari, Reza; Lubitz, Steven A; Steinfurt, Johannes; Rudic, Boris; Loeys, Bart; Shoemaker, M Ben; Weeke, Peter E; Pfeiffer, Ryan; Davies, Brianna; Andorin, Antoine; Hofman, Nynke; Dagradi, Federica; Pedrazzini, Matteo; Tester, David J; Bos, J Martijn; Sarquella-Brugada, Georgia; Campuzano, Óscar; Platonov, Pyotr G; Stallmeyer, Birgit; Zumhagen, Sven; Nannenberg, Eline A; Veldink, Jan H; van den Berg, Leonard H; Al-Chalabi, Ammar; Shaw, Christopher E; Shaw, Pamela J; Morrison, Karen E; Andersen, Peter M; Müller-Nurasyid, Martina; Cusi, Daniele; Barlassina, Cristina; Galan, Pilar; Lathrop, Mark; Munter, Markus; Werge, Thomas; Ribasés, Marta; Aung, Tin; Khor, Chiea C; Ozaki, Mineo; Lichtner, Peter; Meitinger, Thomas; van Tintelen, J Peter; Hoedemaekers, Yvonne; Denjoy, Isabelle; Leenhardt, Antoine; Napolitano, Carlo; Shimizu, Wataru; Schott, Jean-Jacques; Gourraud, Jean-Baptiste; Makiyama, Takeru; Ohno, Seiko; Itoh, Hideki; Krahn, Andrew D; Antzelevitch, Charles; Roden, Dan M; Saenen, Johan; Borggrefe, Martin; Odening, Katja E; Ellinor, Patrick T; Tfelt-Hansen, Jacob; Skinner, Jonathan R; van den Berg, Maarten P; Olesen, Morten Salling; Brugada, Josep; Brugada, Ramón; Makita, Naomasa; Breckpot, Jeroen; Yoshinaga, Masao; Behr, Elijah R; Rydberg, Annika; Aiba, Takeshi; Kääb, Stefan; Priori, Silvia G; Guicheney, Pascale; Tan, Hanno L; Newton-Cheh, Christopher; Ackerman, Michael J; Schwartz, Peter J; Schulze-Bahr, Eric; Probst, Vincent; Horie, Minoru; Wilde, Arthur A; Tanck, Michael W T; Bezzina, Connie R

Sodium permeable and "hypersensitive" TREK-1 channels cause ventricular tachycardia

钠离子通透性高且“高敏感性”的TREK-1通道可引起室性心动过速

Decher, Niels; Ortiz-Bonnin, Beatriz; Friedrich, Corinna; Schewe, Marcus; Kiper, Aytug K; Rinné, Susanne; Seemann, Gunnar; Peyronnet, Rémi; Zumhagen, Sven; Bustos, Daniel; Kockskämper, Jens; Kohl, Peter; Just, Steffen; González, Wendy; Baukrowitz, Thomas; Stallmeyer, Birgit; Schulze-Bahr, Eric