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

Bi-allelic variants in POPDC2 cause an autosomal recessive syndrome presenting with cardiac conduction defects and hypertrophic cardiomyopathy

POPDC2基因的双等位基因变异会导致一种常染色体隐性遗传综合征,其特征为心脏传导缺陷和肥厚型心肌病。

Nicastro, Michele; Vermeer, Alexa M C; Postema, Pieter G; Tadros, Rafik; Bowling, Forrest Z; Aegisdottir, Hildur M; Tragante, Vinicius; Mach, Lukas; Postma, Alex V; Lodder, Elisabeth M; van Duijvenboden, Karel; Zwart, Rob; Beekman, Leander; Wu, Lingshuang; Jurgens, Sean J; van der Zwaag, Paul A; Alders, Mariëlle; Allouba, Mona; Aguib, Yasmine; Santome, J Luis; de Una, David; Monserrat, Lorenzo; Miranda, Antonio M A; Kanemaru, Kazumasa; Cranley, James; van Zeggeren, Ingeborg E; Aronica, Eleonora M A; Ripolone, Michela; Zanotti, Simona; Sveinbjornsson, Gardar; Ivarsdottir, Erna V; Hólm, Hilma; Guðbjartsson, Daníel F; Skúladóttir, Ástrós Th; Stefánsson, Kári; Nadauld, Lincoln; Knowlton, Kirk U; Ostrowski, Sisse Rye; Sørensen, Erik; Vesterager Pedersen, Ole Birger; Ghouse, Jonas; Rand, Søren A; Bundgaard, Henning; Ullum, Henrik; Erikstrup, Christian; Aagaard, Bitten; Bruun, Mie Topholm; Christiansen, Mette; Jensen, Henrik K; Carere, Deanna Alexis; Cummings, Christopher T; Fishler, Kristen; Tørring, Pernille Mathiesen; Brusgaard, Klaus; Juul, Trine Maxel; Saaby, Lotte; Winkel, Bo Gregers; Mogensen, Jens; Fortunato, Francesco; Comi, Giacomo Pietro; Ronchi, Dario; van Tintelen, J Peter; Noseda, Michela; Airola, Michael V; Christiaans, Imke; Wilde, Arthur A M; Wilders, Ronald; Clur, Sally-Ann; Verkerk, Arie O; Bezzina, Connie R; Lahrouchi, Najim

Risk of Sudden Infant Death Syndrome Among Siblings of Children Who Died of Sudden Infant Death Syndrome in Denmark

丹麦婴儿猝死综合征患儿兄弟姐妹罹患婴儿猝死综合征的风险

Glinge, Charlotte; Rossetti, Sára; Oestergaard, Louise Bruun; Stampe, Niels Kjær; Lynge, Thomas Hadberg; Skals, Regitze; Winkel, Bo Gregers; Lodder, Elisabeth M; Bezzina, Connie R; Gislason, Gunnar; Banner, Jytte; Behr, Elijah R; Torp-Pedersen, Christian; Jabbari, Reza; Tfelt-Hansen, Jacob

Genetic Burden of TNNI3K in Diagnostic Testing of Patients With Dilated Cardiomyopathy and Supraventricular Arrhythmias

TNNI3K基因在扩张型心肌病和室上性心律失常患者诊断检测中的遗传负担

Pham, Caroline; Andrzejczyk, Karolina; Jurgens, Sean J; Lekanne Deprez, Ronald; Palm, Kaylin C A; Vermeer, Alexa M C; Nijman, Janneke; Christiaans, Imke; Barge-Schaapveld, Daniela Q C M; van Dessel, Pascal F H M; Beekman, Leander; Choi, Seung Hoan; Lubitz, Steven A; Skoric-Milosavljevic, Doris; van den Bersselaar, Lisa; Jansen, Philip R; Copier, Jaël S; Ellinor, Patrick T; Wilde, Arthur A M; Bezzina, Connie R; Lodder, Elisabeth M

Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries

常见基因变异会增加大动脉转位的风险

Škorić-Milosavljević, Doris; Tadros, Rafik; Bosada, Fernanda M; Tessadori, Federico; van Weerd, Jan Hendrik; Woudstra, Odilia I; Tjong, Fleur V Y; Lahrouchi, Najim; Bajolle, Fanny; Cordell, Heather J; Agopian, A J; Blue, Gillian M; Barge-Schaapveld, Daniela Q C M; Gewillig, Marc; Preuss, Christoph; Lodder, Elisabeth M; Barnett, Phil; Ilgun, Aho; Beekman, Leander; van Duijvenboden, Karel; Bokenkamp, Regina; Müller-Nurasyid, Martina; Vliegen, Hubert W; Konings, Thelma C; van Melle, Joost P; van Dijk, Arie P J; van Kimmenade, Roland R J; Roos-Hesselink, Jolien W; Sieswerda, Gertjan T; Meijboom, Folkert; Abdul-Khaliq, Hashim; Berger, Felix; Dittrich, Sven; Hitz, Marc-Phillip; Moosmann, Julia; Riede, Frank-Thomas; Schubert, Stephan; Galan, Pilar; Lathrop, Mark; Munter, Hans M; Al-Chalabi, Ammar; Shaw, Christopher E; Shaw, Pamela J; Morrison, Karen E; Veldink, Jan H; van den Berg, Leonard H; Evans, Sylvia; Nobrega, Marcelo A; Aneas, Ivy; Radivojkov-Blagojević, Milena; Meitinger, Thomas; Oechslin, Erwin; Mondal, Tapas; Bergin, Lynn; Smythe, John F; Altamirano-Diaz, Luis; Lougheed, Jane; Bouma, Berto J; Chaix, Marie-A; Kline, Jennie; Bassett, Anne S; Andelfinger, Gregor; van der Palen, Roel L F; Bouvagnet, Patrice; Clur, Sally-Ann B; Breckpot, Jeroen; Kerstjens-Frederikse, Wilhelmina S; Winlaw, David S; Bauer, Ulrike M M; Mital, Seema; Goldmuntz, Elizabeth; Keavney, Bernard; Bonnet, Damien; Mulder, Barbara J; Tanck, Michael W T; Bakkers, Jeroen; Christoffels, Vincent M; Boogerd, Cornelis J; Postma, Alex V; Bezzina, Connie R

Targeting the Microtubule EB1-CLASP2 Complex Modulates Na(V)1.5 at Intercalated Discs

靶向微管EB1-CLASP2复合物调节闰盘中的Na(V)1.5

Marchal, Gerard A; Jouni, Mariam; Chiang, David Y; Pérez-Hernández, Marta; Podliesna, Svitlana; Yu, Nuo; Casini, Simona; Potet, Franck; Veerman, Christiaan C; Klerk, Mischa; Lodder, Elisabeth M; Mengarelli, Isabella; Guan, Kaomei; Vanoye, Carlos G; Rothenberg, Eli; Charpentier, Flavien; Redon, Richard; George, Alfred L Jr; Verkerk, Arie O; Bezzina, Connie R; MacRae, Calum A; Burridge, Paul W; Delmar, Mario; Galjart, Niels; Portero, Vincent; Remme, Carol Ann

Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy

PLD1基因的双等位基因功能缺失变异会导致先天性右侧心脏瓣膜缺陷和新生儿心肌病。

Lahrouchi, Najim; Postma, Alex V; Salazar, Christian M; De Laughter, Daniel M; Tjong, Fleur; Piherová, Lenka; Bowling, Forrest Z; Zimmerman, Dominic; Lodder, Elisabeth M; Ta-Shma, Asaf; Perles, Zeev; Beekman, Leander; Ilgun, Aho; Gunst, Quinn; Hababa, Mariam; Škorić-Milosavljević, Doris; Stránecký, Viktor; Tomek, Viktor; de Knijff, Peter; de Leeuw, Rick; Robinson, Jamille Y; Burn, Sabrina C; Mustafa, Hiba; Ambrose, Matthew; Moss, Timothy; Jacober, Jennifer; Niyazov, Dmitriy M; Wolf, Barry; Kim, Katherine H; Cherny, Sara; Rousounides, Andreas; Aristidou-Kallika, Aphrodite; Tanteles, George; Ange-Line, Bruel; Denommé-Pichon, Anne-Sophie; Francannet, Christine; Ortiz, Damara; Haak, Monique C; Ten Harkel, Arend DJ; Manten, Gwendolyn Tr; Dutman, Annemiek C; Bouman, Katelijne; Magliozzi, Monia; Radio, Francesca Clementina; Santen, Gijs We; Herkert, Johanna C; Brown, H Alex; Elpeleg, Orly; van den Hoff, Maurice Jb; Mulder, Barbara; Airola, Michael V; Kmoch, Stanislav; Barnett, Joey V; Clur, Sally-Ann; Frohman, Michael A; Bezzina, Connie R

Two siblings with early repolarization syndrome: clinical and genetic characterization by whole-exome sequencing

两名患有早期复极综合征的兄弟姐妹:通过全外显子组测序进行临床和遗传特征分析

Steinfurt, Johannes; Bezzina, Connie R; Biermann, Jürgen; Staudacher, Dawid; Marschall, Christoph; Trolese, Luca; Faber, Thomas S; Duerschmied, Daniel; Zehender, Manfred; Bode, Christoph; Wilde, Arthur A M; Odening, Katja E; Lodder, Elisabeth M

Systematic large-scale assessment of the genetic architecture of left ventricular noncompaction reveals diverse etiologies

对左心室致密化不全的遗传结构进行系统的大规模评估,揭示了其多种病因。

Mazzarotto, Francesco; Hawley, Megan H; Beltrami, Matteo; Beekman, Leander; de Marvao, Antonio; McGurk, Kathryn A; Statton, Ben; Boschi, Beatrice; Girolami, Francesca; Roberts, Angharad M; Lodder, Elisabeth M; Allouba, Mona; Romeih, Soha; Aguib, Yasmine; Baksi, A John; Pantazis, Antonis; Prasad, Sanjay K; Cerbai, Elisabetta; Yacoub, Magdi H; O'Regan, Declan P; Cook, Stuart A; Ware, James S; Funke, Birgit; Olivotto, Iacopo; Bezzina, Connie R; Barton, Paul J R; Walsh, Roddy

Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot

编码 VEGF 受体 2 的 KDR 基因的罕见变异与法洛四联症相关。

Škorić-Milosavljević, Doris; Lahrouchi, Najim; Bosada, Fernanda M; Dombrowsky, Gregor; Williams, Simon G; Lesurf, Robert; Tjong, Fleur V Y; Walsh, Roddy; El Bouchikhi, Ihssane; Breckpot, Jeroen; Audain, Enrique; Ilgun, Aho; Beekman, Leander; Ratbi, Ilham; Strong, Alanna; Muenke, Maximilian; Heide, Solveig; Muir, Alison M; Hababa, Mariam; Cross, Laura; Zhou, Dihong; Pastinen, Tomi; Zackai, Elaine; Atmani, Samir; Ouldim, Karim; Adadi, Najlae; Steindl, Katharina; Rauch, Anita; Brook, David; Wilsdon, Anna; Kuipers, Irene; Blom, Nico A; Mulder, Barbara J; Mefford, Heather C; Keren, Boris; Joset, Pascal; Kruszka, Paul; Thiffault, Isabelle; Sheppard, Sarah E; Roberts, Amy; Lodder, Elisabeth M; Keavney, Bernard D; Clur, Sally-Ann B; Mital, Seema; Hitz, Marc-Philip; Christoffels, Vincent M; Postma, Alex V; Bezzina, Connie R

Correction to: Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot

更正:KDR基因(编码VEGF受体2)的罕见变异与法洛四联症相关

Škorić-Milosavljević, Doris; Lahrouchi, Najim; Bosada, Fernanda M; Dombrowsky, Gregor; Williams, Simon G; Lesurf, Robert; Tjong, Fleur V Y; Walsh, Roddy; El Bouchikhi, Ihssane; Breckpot, Jeroen; Audain, Enrique; Ilgun, Aho; Beekman, Leander; Ratbi, Ilham; Strong, Alanna; Muenke, Maximilian; Heide, Solveig; Muir, Alison M; Hababa, Mariam; Cross, Laura; Zhou, Dihong; Pastinen, Tomi; Zackai, Elaine; Atmani, Samir; Ouldim, Karim; Adadi, Najlae; Steindl, Katharina; Rauch, Anita; Brook, David; Wilsdon, Anna; Kuipers, Irene; Blom, Nico A; Mulder, Barbara J; Mefford, Heather C; Keren, Boris; Joset, Pascal; Kruszka, Paul; Thiffault, Isabelle; Sheppard, Sarah E; Roberts, Amy; Lodder, Elisabeth M; Keavney, Bernard D; Clur, Sally-Ann B; Mital, Seema; Hitz, Marc-Philip; Christoffels, Vincent M; Postma, Alex V; Bezzina, Connie R