1. 163 Genetic Modifiers in Carriers of the SCN5A E1784K Mutation with Variable Phenotypic Expression - Long QT3 / Brugada Syndrome Overlap Disease. (31st May 2014) Authors: Dullewe Wijeyeratne, Yanushi; Muggenthaler, Martina; Tanck, Michael W; Schott, Jean-Jacques; Kyndt, Florence; Probst, Vincent; Borggrefe, Martin; McKeown, Pascal; Veltmann, Christian; Crotti, Lia; Schwartz, Peter; Sharma, Sanjay; Makita, Naomasa; Roden, Dan; Behr, Elijah R Journal: Heart Issue: Volume 100:(2014)Supplement 3 Page Start: A94 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A rare KCNE1 polymorphism, D85N, as a genetic modifier of long QT syndrome. Issue 3 (26th October 2013) Authors: Hasegawa, Kanae; Ohno, Seiko; Itoh, Hideki; Makiyama, Takeru; Aiba, Takeshi; Nakano, Yasutaka; Shimizu, Wataru; Matsuura, Hiroshi; Makita, Naomasa; Horie, Minoru Journal: Journal of arrhythmia Issue: Volume 30:Issue 3(2014) Page Start: 161 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Calmodulin mutations and life-threatening cardiac arrhythmias: insights from the International Calmodulinopathy Registry. (6th June 2019) Authors: Crotti, Lia; Spazzolini, Carla; Tester, David J; Ghidoni, Alice; Baruteau, Alban-Elouen; Beckmann, Britt-Maria; Behr, Elijah R; Bennett, Jeffrey S; Bezzina, Connie R; Bhuiyan, Zahurul A; Celiker, Alpay; Cerrone, Marina; Dagradi, Federica; De Ferrari, Gaetano M; Etheridge, Susan P; Fatah, Meena; G... Journal: European heart journal Issue: Volume 40:Number 35(2019) Page Start: 2964 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Cardiac Emerinopathy: A Nonsyndromic Nuclear Envelopathy With Increased Risk of Thromboembolic Stroke Due to Progressive Atrial Standstill and Left Ventricular Noncompaction. (October 2020) Authors: Ishikawa, Taisuke; Mishima, Hiroyuki; Barc, Julien; Takahashi, Masanori P.; Hirono, Keiichi; Terada, Shigenori; Kowase, Shinya; Sato, Teruki; Mukai, Yasushi; Yui, Yoshiaki; Ohkubo, Kimie; Kimoto, Hiroki; Watanabe, Hiroyuki; Hata, Yukiko; Aiba, Takeshi; Ohno, Seiko; Chishaki, Akiko; Shimizu, Watar... Journal: Circulation Issue: Volume 13:Number 10(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Dynamic QT response to cold‐water face immersion in long‐QT syndrome type 3. Issue 8 (6th August 2020) Authors: Takahashi, Kazuhiro; Shimizu, Wataru; Makita, Naomasa; Nakayashiro, Mami Journal: Pediatrics international Issue: Volume 62:Issue 8(2020) Page Start: 899 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Estimating the Posttest Probability of Long QT Syndrome Diagnosis for Rare KCNH2 Variants. (26th July 2021) Authors: Kozek, Krystian; Wada, Yuko; Sala, Luca; Denjoy, Isabelle; Egly, Christian; O'Neill, Matthew J.; Aiba, Takeshi; Shimizu, Wataru; Makita, Naomasa; Ishikawa, Taisuke; Crotti, Lia; Spazzolini, Carla; Kotta, Maria-Christina; Dagradi, Federica; Castelletti, Silvia; Pedrazzini, Matteo; Gnecchi, Massimi... Journal: Circulation Issue: Volume 14:Number 4(2021) Page Start: e003289 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the state of genetic testing for cardiac diseases. Issue 4 (31st May 2022) Authors: Wilde, Arthur A. M.; Semsarian, Christopher; Márquez, Manlio F.; Sepehri Shamloo, Alireza; Ackerman, Michael J.; Ashley, Euan A.; Sternick Eduardo, Back; Barajas‐Martinez, Héctor; Behr, Elijah R.; Bezzina, Connie R.; Breckpot, Jeroen; Charron, Philippe; Chockalingam, Priya; Crotti, Lia; Gollob, M... Journal: Journal of arrhythmia Issue: Volume 38:Issue 4(2022) Page Start: 491 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the state of genetic testing for cardiac diseases . Issue 8 (4th April 2022) Authors: Wilde, Arthur A M; Semsarian, Christopher; Márquez, Manlio F; Shamloo, Alireza Sepehri; Ackerman, Michael J; Ashley, Euan A; Sternick, Eduardo Back; Barajas-Martinez, Héctor; Behr, Elijah R; Bezzina, Connie R; Breckpot, Jeroen; Charron, Philippe; Chockalingam, Priya; Crotti, Lia; Gollob, Michael ... Journal: Europace Issue: Volume 24:Issue 8(2022) Page Start: 1307 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Functional Characterization of Rare Variants Implicated in Susceptibility to Lone Atrial Fibrillation. (October 2015) Authors: Hayashi, Kenshi; Konno, Tetsuo; Tada, Hayato; Tani, Satoyuki; Liu, Li; Fujino, Noboru; Nohara, Atsushi; Hodatsu, Akihiko; Tsuda, Toyonobu; Tanaka, Yoshihiro; Kawashiri, Masa-aki; Ino, Hidekazu; Makita, Naomasa; Yamagishi, Masakazu Journal: Circulation Issue: Volume 8:Number 5(2015) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Functionally validated SCN5A variants allow interpretation of pathogenicity and prediction of lethal events in Brugada syndrome. (5th June 2021) Authors: Ishikawa, Taisuke; Kimoto, Hiroki; Mishima, Hiroyuki; Yamagata, Kenichiro; Ogata, Soshiro; Aizawa, Yoshiyasu; Hayashi, Kenshi; Morita, Hiroshi; Nakajima, Tadashi; Nakano, Yukiko; Nagase, Satoshi; Murakoshi, Nobuyuki; Kowase, Shinya; Ohkubo, Kimie; Aiba, Takeshi; Morimoto, Shimpei; Ohno, Seiko; Ka... Journal: European heart journal Issue: Volume 42:Number 29(2021) Page Start: 2854 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗