KCNQ1 c.386+18089T>C

Variant ID: 11-2484803-T-C

NM_000218.2(KCNQ1):c.386+18089T>C

This variant was identified in 31 publications

View GRCh38 version.




Publications:


Culture intelligent workflow, structure, and steps.

Frontiers In Artificial Intelligence
Henry, James Andrew JA
Publication Date: 2023

Variant appearance in text: rs2074238
PubMed Link: 36925615
Variant Present in the following documents:
  • Main text
  • frai-06-985469.pdf
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Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs2074238
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
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Global chromatin landscapes identify candidate noncoding modifiers of cardiac rhythm.

The Journal Of Clinical Investigation
Bhattacharyya, Samadrita S; Kollipara, Rahul K RK; Orquera-Tornakian, Gabriela G; Goetsch, Sean S; Zhang, Minzhe M; Perry, Cameron C; Li, Boxun B; Shelton, John M JM; Bhakta, Minoti M; Duan, Jialei J; Xie, Yang Y; Xiao, Guanghua G; Evers, Bret M BM; Hon, Gary C GC; Kittler, Ralf R; Munshi, Nikhil V NV
Publication Date: 2022-12-01

Variant appearance in text: rs2074238
PubMed Link: 36454649
Variant Present in the following documents:
  • jci-133-153635-s057.pdf
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Deciphering Common Long QT Syndrome Using CRISPR/Cas9 in Human-Induced Pluripotent Stem Cell-Derived Cardiomyocytes.

Frontiers In Cardiovascular Medicine
Song, Yongfei Y; Zheng, Zequn Z; Lian, Jiangfang J
Publication Date: 2022

Variant appearance in text: rs2074238
PubMed Link: 35647048
Variant Present in the following documents:
  • Main text
  • fcvm-09-889519.pdf
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Genomic and pleiotropic analyses of resting QT interval identifies novel loci and overlap with atrial electrical disorders.

Human Molecular Genetics
van Duijvenboden, Stefan S; Ramírez, Julia J; Young, William J WJ; Orini, Michele M; Mifsud, Borbala B; Tinker, Andrew A; Lambiase, Pier D PD; Munroe, Patricia B PB
Publication Date: 2021-11-30

Variant appearance in text: rs2074238
PubMed Link: 34274964
Variant Present in the following documents:
  • Main text
  • ddab197.pdf
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Long QT syndrome - Bench to bedside.

Heart Rhythm O2
Ponce-Balbuena, Daniela D; Deschênes, Isabelle I
Publication Date: 2021-02

Variant appearance in text: rs2074238
PubMed Link: 34113909
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



KCNQ1 and Long QT Syndrome in 1/45 Amish: The Road From Identification to Implementation of Culturally Appropriate Precision Medicine.

Circulation. Genomic And Precision Medicine
Streeten, Elizabeth A EA; See, Vincent Y VY; Jeng, Linda B J LBJ; Maloney, Kristin A KA; Lynch, Megan M; Glazer, Andrew M AM; Yang, Tao T; Roden, Dan D; Pollin, Toni I TI; Daue, Melanie M; Ryan, Kathleen A KA; Van Hout, Cristopher C; Gosalia, Nehal N; Gonzaga-Jauregui, Claudia C; Economides, Aris A; Perry, James A JA; O'Connell, Jeffrey J; Beitelshees, Amber A; Palmer, Kathleen K; Mitchell, Braxton D BD; Shuldiner, Alan R AR; ,
Publication Date: 2020-12

Variant appearance in text: rs2074238
PubMed Link: 33141630
Variant Present in the following documents:
  • hcg-13-e003133-s001.pdf
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The Genetic Makeup of the Electrocardiogram.

Cell Systems
Verweij, Niek N; Benjamins, Jan-Walter JW; Morley, Michael P MP; van de Vegte, Yordi J YJ; Teumer, Alexander A; Trenkwalder, Teresa T; Reinhard, Wibke W; Cappola, Thomas P TP; van der Harst, Pim P
Publication Date: 2020-09-23

Variant appearance in text: rs2074238
PubMed Link: 32916098
Variant Present in the following documents:
  • Main text
View BVdb publication page



Validation and Disease Risk Assessment of Previously Reported Genome-Wide Genetic Variants Associated With Brugada Syndrome: SADS-TW BrS Registry.

Circulation. Genomic And Precision Medicine
Jimmy Juang, Jyh-Ming JM; Liu, Yen-Bin YB; Julius Chen, Ching-Yu CY; Yu, Qi-You QY; Chattopadhyay, Amrita A; Lin, Lian-Yu LY; Chen, Wen-Jone WJ; Yu, Chih-Chien CC; Huang, Hui-Chun HC; Ho, Li-Ting LT; Lai, Ling-Ping LP; Hwang, Juey-Jen JJ; Lin, Ting-Tse TT; Liao, Min-Tsun MT; Chen, Jien-Jiun JJ; Sherri Yeh, Shih-Fan SF; Chuang, Jing-Yuan JY; Yang, Dun-Hui DH; Lin, Jiunn-Lee JL; Lu, Tzu-Pin TP; Chuang, Eric Y EY; Ackerman, Michael J MJ
Publication Date: 2020-08

Variant appearance in text: rs2074238
PubMed Link: 32490690
Variant Present in the following documents:
  • hcg-13-e002797-s001.pdf
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ExomeChip-Wide Analysis of 95 626 Individuals Identifies 10 Novel Loci Associated With QT and JT Intervals.

Circulation. Genomic And Precision Medicine
Bihlmeyer, Nathan A NA; Brody, Jennifer A JA; Smith, Albert Vernon AV; Warren, Helen R HR; Lin, Honghuang H; Isaacs, Aaron A; Liu, Ching-Ti CT; Marten, Jonathan J; Radmanesh, Farid F; Hall, Leanne M LM; Grarup, Niels N; Mei, Hao H; Müller-Nurasyid, Martina M; Huffman, Jennifer E JE; Verweij, Niek N; Guo, Xiuqing X; Yao, Jie J; Li-Gao, Ruifang R; van den Berg, Marten M; Weiss, Stefan S; Prins, Bram P BP; van Setten, Jessica J; Haessler, Jeffrey J; Lyytikäinen, Leo-Pekka LP; Li, Man M; Alonso, Alvaro A; Soliman, Elsayed Z EZ; Bis, Joshua C JC; Austin, Tom T; Chen, Yii-Der Ida YI; Psaty, Bruce M BM; Harrris, Tamara B TB; Launer, Lenore J LJ; Padmanabhan, Sandosh S; Dominiczak, Anna A; Huang, Paul L PL; Xie, Zhijun Z; Ellinor, Patrick T PT; Kors, Jan A JA; Campbell, Archie A; Murray, Alison D AD; Nelson, Christopher P CP; Tobin, Martin D MD; Bork-Jensen, Jette J; Hansen, Torben T; Pedersen, Oluf O; Linneberg, Allan A; Sinner, Moritz F MF; Peters, Annette A; Waldenberger, Melanie M; Meitinger, Thomas T; Perz, Siegfried S; Kolcic, Ivana I; Rudan, Igor I; de Boer, Rudolf A RA; van der Meer, Peter P; Lin, Henry J HJ; Taylor, Kent D KD; de Mutsert, Renée R; Trompet, Stella S; Jukema, J Wouter JW; Maan, Arie C AC; Stricker, Bruno H C BHC; Rivadeneira, Fernando F; Uitterlinden, André A; Völker, Uwe U; Homuth, Georg G; Völzke, Henry H; Felix, Stephan B SB; Mangino, Massimo M; Spector, Timothy D TD; Bots, Michiel L ML; Perez, Marco M; Raitakari, Olli T OT; Kähönen, Mika M; Mononen, Nina N; Gudnason, Vilmundur V; Munroe, Patricia B PB; Lubitz, Steven A SA; van Duijn, Cornelia M CM; Newton-Cheh, Christopher H CH; Hayward, Caroline C; Rosand, Jonathan J; Samani, Nilesh J NJ; Kanters, Jørgen K JK; Wilson, James G JG; Kääb, Stefan S; Polasek, Ozren O; van der Harst, Pim P; Heckbert, Susan R SR; Rotter, Jerome I JI; Mook-Kanamori, Dennis O DO; Eijgelsheim, Mark M; Dörr, Marcus M; Jamshidi, Yalda Y; Asselbergs, Folkert W FW; Kooperberg, Charles C; Lehtimäki, Terho T; Arking, Dan E DE; Sotoodehnia, Nona N
Publication Date: 2018-01

Variant appearance in text: rs2074238
PubMed Link: 29874175
Variant Present in the following documents:
  • Main text
  • hcg-11-e001758.pdf
  • hcg-11-e001758-s001.pdf
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GWAS of the electrocardiographic QT interval in Hispanics/Latinos generalizes previously identified loci and identifies population-specific signals.

Scientific Reports
Méndez-Giráldez, Raúl R; Gogarten, Stephanie M SM; Below, Jennifer E JE; Yao, Jie J; Seyerle, Amanda A AA; Highland, Heather M HM; Kooperberg, Charles C; Soliman, Elsayed Z EZ; Rotter, Jerome I JI; Kerr, Kathleen F KF; Ryckman, Kelli K KK; Taylor, Kent D KD; Petty, Lauren E LE; Shah, Sanjiv J SJ; Conomos, Matthew P MP; Sotoodehnia, Nona N; Cheng, Susan S; Heckbert, Susan R SR; Sofer, Tamar T; Guo, Xiuqing X; Whitsel, Eric A EA; Lin, Henry J HJ; Hanis, Craig L CL; Laurie, Cathy C CC; Avery, Christy L CL
Publication Date: 2017-12-06

Variant appearance in text: rs2074238
PubMed Link: 29213071
Variant Present in the following documents:
  • 41598_2017_17136_MOESM1_ESM.pdf
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iPSCORE: A Resource of 222 iPSC Lines Enabling Functional Characterization of Genetic Variation across a Variety of Cell Types.

Stem Cell Reports
Panopoulos, Athanasia D AD; D'Antonio, Matteo M; Benaglio, Paola P; Williams, Roy R; Hashem, Sherin I SI; Schuldt, Bernhard M BM; DeBoever, Christopher C; Arias, Angelo D AD; Garcia, Melvin M; Nelson, Bradley C BC; Harismendy, Olivier O; Jakubosky, David A DA; Donovan, Margaret K R MKR; Greenwald, William W WW; Farnam, KathyJean K; Cook, Megan M; Borja, Victor V; Miller, Carl A CA; Grinstein, Jonathan D JD; Drees, Frauke F; Okubo, Jonathan J; Diffenderfer, Kenneth E KE; Hishida, Yuriko Y; Modesto, Veronica V; Dargitz, Carl T CT; Feiring, Rachel R; Zhao, Chang C; Aguirre, Aitor A; McGarry, Thomas J TJ; Matsui, Hiroko H; Li, He H; Reyna, Joaquin J; Rao, Fangwen F; O'Connor, Daniel T DT; Yeo, Gene W GW; Evans, Sylvia M SM; Chi, Neil C NC; Jepsen, Kristen K; Nariai, Naoki N; Müller, Franz-Josef FJ; Goldstein, Lawrence S B LSB; Izpisua Belmonte, Juan Carlos JC; Adler, Eric E; Loring, Jeanne F JF; Berggren, W Travis WT; D'Antonio-Chronowska, Agnieszka A; Smith, Erin N EN; Frazer, Kelly A KA
Publication Date: 2017-04-11

Variant appearance in text: rs2074238
PubMed Link: 28410642
Variant Present in the following documents:
  • mmc7.pdf
  • main.pdf
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Fine mapping of QT interval regions in global populations refines previously identified QT interval loci and identifies signals unique to African and Hispanic descent populations.

Heart Rhythm
Avery, Christy L CL; Wassel, Christina L CL; Richard, Melissa A MA; Highland, Heather M HM; Bien, Stephanie S; Zubair, Niha N; Soliman, Elsayed Z EZ; Fornage, Myriam M; Bielinski, Suzette J SJ; Tao, Ran R; Seyerle, Amanda A AA; Shah, Sanjiv J SJ; Lloyd-Jones, Donald M DM; Buyske, Steven S; Rotter, Jerome I JI; Post, Wendy S WS; Rich, Stephen S SS; Hindorff, Lucia A LA; Jeff, Janina M JM; Shohet, Ralph V RV; Sotoodehnia, Nona N; Lin, Dan Yu DY; Whitsel, Eric A EA; Peters, Ulrike U; Haiman, Christopher A CA; Crawford, Dana C DC; Kooperberg, Charles C; North, Kari E KE
Publication Date: 2017-04

Variant appearance in text: rs2074238
PubMed Link: 27988371
Variant Present in the following documents:
  • Main text
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The ACVRL1 c.314-35A>G polymorphism is associated with organ vascular malformations in hereditary hemorrhagic telangiectasia patients with ENG mutations, but not in patients with ACVRL1 mutations.

American Journal Of Medical Genetics. Part A
Pawlikowska, Ludmila L; Nelson, Jeffrey J; Guo, Diana E DE; McCulloch, Charles E CE; Lawton, Michael T MT; Young, William L WL; Kim, Helen H; Faughnan, Marie E ME; ,
Publication Date: 2015-06

Variant appearance in text: rs2074238
PubMed Link: 25847705
Variant Present in the following documents:
  • Main text
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Analysis for Genetic Modifiers of Disease Severity in Patients With Long-QT Syndrome Type 2.

Circulation. Cardiovascular Genetics
Kolder, Iris C R M ICRM; Tanck, Michael W T MWT; Postema, Pieter G PG; Barc, Julien J; Sinner, Moritz F MF; Zumhagen, Sven S; Husemann, Anja A; Stallmeyer, Birgit B; Koopmann, Tamara T TT; Hofman, Nynke N; Pfeufer, Arne A; Lichtner, Peter P; Meitinger, Thomas T; Beckmann, Britt M BM; Myerburg, Robert J RJ; Bishopric, Nanette H NH; Roden, Dan M DM; Kääb, Stefan S; Wilde, Arthur A M AAM; Schott, Jean-Jacques JJ; Schulze-Bahr, Eric E; Bezzina, Connie R CR
Publication Date: 2015-06

Variant appearance in text: rs2074238
PubMed Link: 25737393
Variant Present in the following documents:
  • Main text
View BVdb publication page



Evidence of heterogeneity by race/ethnicity in genetic determinants of QT interval.

Epidemiology (Cambridge, Mass.)
Seyerle, Amanda A AA; Young, Alicia M AM; Jeff, Janina M JM; Melton, Phillip E PE; Jorgensen, Neal W NW; Lin, Yi Y; Carty, Cara L CL; Deelman, Ewa E; Heckbert, Susan R SR; Hindorff, Lucia A LA; Jackson, Rebecca D RD; Martin, Lisa W LW; Okin, Peter M PM; Perez, Marco V MV; Psaty, Bruce M BM; Soliman, Elsayed Z EZ; Whitsel, Eric A EA; North, Kari E KE; Laston, Sandra S; Kooperberg, Charles C; Avery, Christy L CL
Publication Date: 2014-11

Variant appearance in text: rs2074238
PubMed Link: 25166880
Variant Present in the following documents:
  • Main text
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AKAP9 is a genetic modifier of congenital long-QT syndrome type 1.

Circulation. Cardiovascular Genetics
de Villiers, Carin P CP; van der Merwe, Lize L; Crotti, Lia L; Goosen, Althea A; George, Alfred L AL; Schwartz, Peter J PJ; Brink, Paul A PA; Moolman-Smook, Johanna C JC; Corfield, Valerie A VA
Publication Date: 2014-10

Variant appearance in text: rs2074238
PubMed Link: 25087618
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.

Nature Genetics
Arking, Dan E DE; Pulit, Sara L SL; Crotti, Lia L; van der Harst, Pim P; Munroe, Patricia B PB; Koopmann, Tamara T TT; Sotoodehnia, Nona N; Rossin, Elizabeth J EJ; Morley, Michael M; Wang, Xinchen X; Johnson, Andrew D AD; Lundby, Alicia A; Gudbjartsson, Daníel F DF; Noseworthy, Peter A PA; Eijgelsheim, Mark M; Bradford, Yuki Y; Tarasov, Kirill V KV; Dörr, Marcus M; Müller-Nurasyid, Martina M; Lahtinen, Annukka M AM; Nolte, Ilja M IM; Smith, Albert Vernon AV; Bis, Joshua C JC; Isaacs, Aaron A; Newhouse, Stephen J SJ; Evans, Daniel S DS; Post, Wendy S WS; Waggott, Daryl D; Lyytikäinen, Leo-Pekka LP; Hicks, Andrew A AA; Eisele, Lewin L; Ellinghaus, David D; Hayward, Caroline C; Navarro, Pau P; Ulivi, Sheila S; Tanaka, Toshiko T; Tester, David J DJ; Chatel, Stéphanie S; Gustafsson, Stefan S; Kumari, Meena M; Morris, Richard W RW; Naluai, Åsa T ÅT; Padmanabhan, Sandosh S; Kluttig, Alexander A; Strohmer, Bernhard B; Panayiotou, Andrie G AG; Torres, Maria M; Knoflach, Michael M; Hubacek, Jaroslav A JA; Slowikowski, Kamil K; Raychaudhuri, Soumya S; Kumar, Runjun D RD; Harris, Tamara B TB; Launer, Lenore J LJ; Shuldiner, Alan R AR; Alonso, Alvaro A; Bader, Joel S JS; Ehret, Georg G; Huang, Hailiang H; Kao, W H Linda WH; Strait, James B JB; Macfarlane, Peter W PW; Brown, Morris M; Caulfield, Mark J MJ; Samani, Nilesh J NJ; Kronenberg, Florian F; Willeit, Johann J; , ; , ; Smith, J Gustav JG; Greiser, Karin H KH; Meyer Zu Schwabedissen, Henriette H; Werdan, Karl K; Carella, Massimo M; Zelante, Leopoldo L; Heckbert, Susan R SR; Psaty, Bruce M BM; Rotter, Jerome I JI; Kolcic, Ivana I; Polašek, Ozren O; Wright, Alan F AF; Griffin, Maura M; Daly, Mark J MJ; , ; Arnar, David O DO; Hólm, Hilma H; Thorsteinsdottir, Unnur U; , ; Denny, Joshua C JC; Roden, Dan M DM; Zuvich, Rebecca L RL; Emilsson, Valur V; Plump, Andrew S AS; Larson, Martin G MG; O'Donnell, Christopher J CJ; Yin, Xiaoyan X; Bobbo, Marco M; D'Adamo, Adamo P AP; Iorio, Annamaria A; Sinagra, Gianfranco G; Carracedo, Angel A; Cummings, Steven R SR; Nalls, Michael A MA; Jula, Antti A; Kontula, Kimmo K KK; Marjamaa, Annukka A; Oikarinen, Lasse L; Perola, Markus M; Porthan, Kimmo K; Erbel, Raimund R; Hoffmann, Per P; Jöckel, Karl-Heinz KH; Kälsch, Hagen H; Nöthen, Markus M MM; , ; den Hoed, Marcel M; Loos, Ruth J F RJ; Thelle, Dag S DS; Gieger, Christian C; Meitinger, Thomas T; Perz, Siegfried S; Peters, Annette A; Prucha, Hanna H; Sinner, Moritz F MF; Waldenberger, Melanie M; de Boer, Rudolf A RA; Franke, Lude L; van der Vleuten, Pieter A PA; Beckmann, Britt Maria BM; Martens, Eimo E; Bardai, Abdennasser A; Hofman, Nynke N; Wilde, Arthur A M AA; Behr, Elijah R ER; Dalageorgou, Chrysoula C; Giudicessi, John R JR; Medeiros-Domingo, Argelia A; Barc, Julien J; Kyndt, Florence F; Probst, Vincent V; Ghidoni, Alice A; Insolia, Roberto R; Hamilton, Robert M RM; Scherer, Stephen W SW; Brandimarto, Jeffrey J; Margulies, Kenneth K; Moravec, Christine E CE; del Greco M, Fabiola F; Fuchsberger, Christian C; O'Connell, Jeffrey R JR; Lee, Wai K WK; Watt, Graham C M GC; Campbell, Harry H; Wild, Sarah H SH; El Mokhtari, Nour E NE; Frey, Norbert N; Asselbergs, Folkert W FW; Mateo Leach, Irene I; Navis, Gerjan G; van den Berg, Maarten P MP; van Veldhuisen, Dirk J DJ; Kellis, Manolis M; Krijthe, Bouwe P BP; Franco, Oscar H OH; Hofman, Albert A; Kors, Jan A JA; Uitterlinden, André G AG; Witteman, Jacqueline C M JC; Kedenko, Lyudmyla L; Lamina, Claudia C; Oostra, Ben A BA; Abecasis, Gonçalo R GR; Lakatta, Edward G EG; Mulas, Antonella A; Orrú, Marco M; Schlessinger, David D; Uda, Manuela M; Markus, Marcello R P MR; Völker, Uwe U; Snieder, Harold H; Spector, Timothy D TD; Ärnlöv, Johan J; Lind, Lars L; Sundström, Johan J; Syvänen, Ann-Christine AC; Kivimaki, Mika M; Kähönen, Mika M; Mononen, Nina N; Raitakari, Olli T OT; Viikari, Jorma S JS; Adamkova, Vera V; Kiechl, Stefan S; Brion, Maria M; Nicolaides, Andrew N AN; Paulweber, Bernhard B; Haerting, Johannes J; Dominiczak, Anna F AF; Nyberg, Fredrik F; Whincup, Peter H PH; Hingorani, Aroon D AD; Schott, Jean-Jacques JJ; Bezzina, Connie R CR; Ingelsson, Erik E; Ferrucci, Luigi L; Gasparini, Paolo P; Wilson, James F JF; Rudan, Igor I; Franke, Andre A; Mühleisen, Thomas W TW; Pramstaller, Peter P PP; Lehtimäki, Terho J TJ; Paterson, Andrew D AD; Parsa, Afshin A; Liu, Yongmei Y; van Duijn, Cornelia M CM; Siscovick, David S DS; Gudnason, Vilmundur V; Jamshidi, Yalda Y; Salomaa, Veikko V; Felix, Stephan B SB; Sanna, Serena S; Ritchie, Marylyn D MD; Stricker, Bruno H BH; Stefansson, Kari K; Boyer, Laurie A LA; Cappola, Thomas P TP; Olsen, Jesper V JV; Lage, Kasper K; Schwartz, Peter J PJ; Kääb, Stefan S; Chakravarti, Aravinda A; Ackerman, Michael J MJ; Pfeufer, Arne A; de Bakker, Paul I W PI; Newton-Cheh, Christopher C
Publication Date: 2014-08

Variant appearance in text: rs2074238
PubMed Link: 24952745
Variant Present in the following documents:
  • NIHMS600569-supplement-1.pdf
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Arrhythmia risk in long QT syndrome: beyond the disease-causative mutation.

Circulation. Cardiovascular Genetics
Giudicessi, John R JR; Ackerman, Michael J MJ
Publication Date: 2013-08

Variant appearance in text: rs2074238
PubMed Link: 23963159
Variant Present in the following documents:
  • Main text
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Identification of a KCNQ1 polymorphism acting as a protective modifier against arrhythmic risk in long-QT syndrome.

Circulation. Cardiovascular Genetics
Duchatelet, Sabine S; Crotti, Lia L; Peat, Rachel A RA; Denjoy, Isabelle I; Itoh, Hideki H; Berthet, Myriam M; Ohno, Seiko S; Fressart, Véronique V; Monti, Maria Cristina MC; Crocamo, Cristina C; Pedrazzini, Matteo M; Dagradi, Federica F; Vicentini, Alessandro A; Klug, Didier D; Brink, Paul A PA; Goosen, Althea A; Swan, Heikki H; Toivonen, Lauri L; Lahtinen, Annukka M AM; Kontula, Kimmo K; Shimizu, Wataru W; Horie, Minoru M; George, Alfred L AL; Trégouët, David-Alexandre DA; Guicheney, Pascale P; Schwartz, Peter J PJ
Publication Date: 2013-08

Variant appearance in text: rs2074238
PubMed Link: 23856471
Variant Present in the following documents:
  • Main text
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Long QT syndrome: beyond the causal mutation.

The Journal Of Physiology
Amin, Ahmad S AS; Pinto, Yigal M YM; Wilde, Arthur A M AA
Publication Date: 2013-09-01

Variant appearance in text: rs2074238
PubMed Link: 23753525
Variant Present in the following documents:
  • Main text
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Drug-gene interactions and the search for missing heritability: a cross-sectional pharmacogenomics study of the QT interval.

The Pharmacogenomics Journal
Avery, C L CL; Sitlani, C M CM; Arking, D E DE; Arnett, D K DK; Bis, J C JC; Boerwinkle, E E; Buckley, B M BM; Ida Chen, Y-D YD; de Craen, A J M AJ; Eijgelsheim, M M; Enquobahrie, D D; Evans, D S DS; Ford, I I; Garcia, M E ME; Gudnason, V V; Harris, T B TB; Heckbert, S R SR; Hochner, H H; Hofman, A A; Hsueh, W-C WC; Isaacs, A A; Jukema, J W JW; Knekt, P P; Kors, J A JA; Krijthe, B P BP; Kristiansson, K K; Laaksonen, M M; Liu, Y Y; Li, X X; Macfarlane, P W PW; Newton-Cheh, C C; Nieminen, M S MS; Oostra, B A BA; Peloso, G M GM; Porthan, K K; Rice, K K; Rivadeneira, F F FF; Rotter, J I JI; Salomaa, V V; Sattar, N N; Siscovick, D S DS; Slagboom, P E PE; Smith, A V AV; Sotoodehnia, N N; Stott, D J DJ; Stricker, B H BH; Stürmer, T T; Trompet, S S; Uitterlinden, A G AG; van Duijn, C C; Westendorp, R G J RG; Witteman, J C JC; Whitsel, E A EA; Psaty, B M BM
Publication Date: 2014-02

Variant appearance in text: rs2074238
PubMed Link: 23459443
Variant Present in the following documents:
  • Main text
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SNPs identified as modulators of ECG traits in the general population do not markedly affect ECG traits during acute myocardial infarction nor ventricular fibrillation risk in this condition.

Plos One
Pazoki, Raha R; de Jong, Jonas S S G JS; Marsman, Roos F RF; Bruinsma, Nienke N; Dekker, Lukas R C LR; Wilde, Arthur A M AA; Bezzina, Connie R CR; Tanck, Michael W T MW
Publication Date: 2013

Variant appearance in text: rs2074238
PubMed Link: 23437344
Variant Present in the following documents:
  • Main text
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Determinants of incomplete penetrance and variable expressivity in heritable cardiac arrhythmia syndromes.

Translational Research : The Journal Of Laboratory And Clinical Medicine
Giudicessi, John R JR; Ackerman, Michael J MJ
Publication Date: 2013-01

Variant appearance in text: rs2074238
PubMed Link: 22995932
Variant Present in the following documents:
  • Main text
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Linking disease associations with regulatory information in the human genome.

Genome Research
Schaub, Marc A MA; Boyle, Alan P AP; Kundaje, Anshul A; Batzoglou, Serafim S; Snyder, Michael M
Publication Date: 2012-09

Variant appearance in text: rs2074238
PubMed Link: 22955986
Variant Present in the following documents:
  • Main text
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Fine-mapping and initial characterization of QT interval loci in African Americans.

Plos Genetics
Avery, Christy L CL; Sethupathy, Praveen P; Buyske, Steven S; He, Qianchuan Q; Lin, Dan-Yu DY; Arking, Dan E DE; Carty, Cara L CL; Duggan, David D; Fesinmeyer, Megan D MD; Hindorff, Lucia A LA; Jeff, Janina M JM; Klein, Liviu L; Patton, Kristen K KK; Peters, Ulrike U; Shohet, Ralph V RV; Sotoodehnia, Nona N; Young, Alicia M AM; Kooperberg, Charles C; Haiman, Christopher A CA; Mohlke, Karen L KL; Whitsel, Eric A EA; North, Kari E KE
Publication Date: 2012

Variant appearance in text: rs2074238
PubMed Link: 22912591
Variant Present in the following documents:
  • Main text
  • pgen.1002870.pdf
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Epidemiology and genetics of sudden cardiac death.

Circulation
Deo, Rajat R; Albert, Christine M CM
Publication Date: 2012-01-31

Variant appearance in text: rs2074238
PubMed Link: 22294707
Variant Present in the following documents:
  • Main text
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Common genetic variants, QT interval, and sudden cardiac death in a Finnish population-based study.

Circulation. Cardiovascular Genetics
Noseworthy, Peter A PA; Havulinna, Aki S AS; Porthan, Kimmo K; Lahtinen, Annukka M AM; Jula, Antti A; Karhunen, Pekka J PJ; Perola, Markus M; Oikarinen, Lasse L; Kontula, Kimmo K KK; Salomaa, Veikko V; Newton-Cheh, Christopher C
Publication Date: 2011-06

Variant appearance in text: rs2074238
PubMed Link: 21511878
Variant Present in the following documents:
  • Main text
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Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction.

Nature Genetics
Sotoodehnia, Nona N; Isaacs, Aaron A; de Bakker, Paul I W PI; Dörr, Marcus M; Newton-Cheh, Christopher C; Nolte, Ilja M IM; van der Harst, Pim P; Müller, Martina M; Eijgelsheim, Mark M; Alonso, Alvaro A; Hicks, Andrew A AA; Padmanabhan, Sandosh S; Hayward, Caroline C; Smith, Albert Vernon AV; Polasek, Ozren O; Giovannone, Steven S; Fu, Jingyuan J; Magnani, Jared W JW; Marciante, Kristin D KD; Pfeufer, Arne A; Gharib, Sina A SA; Teumer, Alexander A; Li, Man M; Bis, Joshua C JC; Rivadeneira, Fernando F; Aspelund, Thor T; Köttgen, Anna A; Johnson, Toby T; Rice, Kenneth K; Sie, Mark P S MP; Wang, Ying A YA; Klopp, Norman N; Fuchsberger, Christian C; Wild, Sarah H SH; Mateo Leach, Irene I; Estrada, Karol K; Völker, Uwe U; Wright, Alan F AF; Asselbergs, Folkert W FW; Qu, Jiaxiang J; Chakravarti, Aravinda A; Sinner, Moritz F MF; Kors, Jan A JA; Petersmann, Astrid A; Harris, Tamara B TB; Soliman, Elsayed Z EZ; Munroe, Patricia B PB; Psaty, Bruce M BM; Oostra, Ben A BA; Cupples, L Adrienne LA; Perz, Siegfried S; de Boer, Rudolf A RA; Uitterlinden, André G AG; Völzke, Henry H; Spector, Timothy D TD; Liu, Fang-Yu FY; Boerwinkle, Eric E; Dominiczak, Anna F AF; Rotter, Jerome I JI; van Herpen, Gé G; Levy, Daniel D; Wichmann, H-Erich HE; van Gilst, Wiek H WH; Witteman, Jacqueline C M JC; Kroemer, Heyo K HK; Kao, W H Linda WH; Heckbert, Susan R SR; Meitinger, Thomas T; Hofman, Albert A; Campbell, Harry H; Folsom, Aaron R AR; van Veldhuisen, Dirk J DJ; Schwienbacher, Christine C; O'Donnell, Christopher J CJ; Volpato, Claudia Beu CB; Caulfield, Mark J MJ; Connell, John M JM; Launer, Lenore L; Lu, Xiaowen X; Franke, Lude L; Fehrmann, Rudolf S N RS; te Meerman, Gerard G; Groen, Harry J M HJ; Weersma, Rinse K RK; van den Berg, Leonard H LH; Wijmenga, Cisca C; Ophoff, Roel A RA; Navis, Gerjan G; Rudan, Igor I; Snieder, Harold H; Wilson, James F JF; Pramstaller, Peter P PP; Siscovick, David S DS; Wang, Thomas J TJ; Gudnason, Vilmundur V; van Duijn, Cornelia M CM; Felix, Stephan B SB; Fishman, Glenn I GI; Jamshidi, Yalda Y; Stricker, Bruno H Ch BH; Samani, Nilesh J NJ; Kääb, Stefan S; Arking, Dan E DE
Publication Date: 2010-12

Variant appearance in text: rs2074238
PubMed Link: 21076409
Variant Present in the following documents:
  • NIHMS247823-supplement-1.pdf
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Systems pharmacology of arrhythmias.

Science Signaling
Berger, Seth I SI; Ma'ayan, Avi A; Iyengar, Ravi R
Publication Date: 2010-04-20

Variant appearance in text: rs2074238
PubMed Link: 20407125
Variant Present in the following documents:
  • Main text
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Common variants at ten loci influence QT interval duration in the QTGEN Study.

Nature Genetics
Newton-Cheh, Christopher C; Eijgelsheim, Mark M; Rice, Kenneth M KM; de Bakker, Paul I W PI; Yin, Xiaoyan X; Estrada, Karol K; Bis, Joshua C JC; Marciante, Kristin K; Rivadeneira, Fernando F; Noseworthy, Peter A PA; Sotoodehnia, Nona N; Smith, Nicholas L NL; Rotter, Jerome I JI; Kors, Jan A JA; Witteman, Jacqueline C M JC; Hofman, Albert A; Heckbert, Susan R SR; O'Donnell, Christopher J CJ; Uitterlinden, André G AG; Psaty, Bruce M BM; Lumley, Thomas T; Larson, Martin G MG; Stricker, Bruno H Ch BH
Publication Date: 2009-04

Variant appearance in text: rs2074238
PubMed Link: 19305408
Variant Present in the following documents:
  • Main text
  • nihms100620.pdf
  • NIHMS100620-supplement-1.pdf
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