Concealed Substrates in Brugada Syndrome: Isolated Channelopathy or Associated Cardiomyopathy?
Genes
Di Resta, Chiara C; Berg, Jan J; Villatore, Andrea A; Maia, Marianna M; Pili, Gianluca G; Fioravanti, Francesco F; Tomaiuolo, Rossella R; Sala, Simone S; Benedetti, Sara S; Peretto, Giovanni G
A Polygenic Risk Score Based on a Cardioembolic Stroke Multitrait Analysis Improves a Clinical Prediction Model for This Stroke Subtype.
Frontiers In Cardiovascular Medicine
Cárcel-Márquez, Jara J; Muiño, Elena E; Gallego-Fabrega, Cristina C; Cullell, Natalia N; Lledós, Miquel M; Llucià-Carol, Laia L; Sobrino, Tomás T; Campos, Francisco F; Castillo, José J; Freijo, Marimar M; Arenillas, Juan Francisco JF; Obach, Victor V; Álvarez-Sabín, José J; Molina, Carlos A CA; Ribó, Marc M; Jiménez-Conde, Jordi J; Roquer, Jaume J; Muñoz-Narbona, Lucia L; Lopez-Cancio, Elena E; Millán, Mònica M; Diaz-Navarro, Rosa R; Vives-Bauza, Cristòfol C; Serrano-Heras, Gemma G; Segura, Tomás T; Ibañez, Laura L; Heitsch, Laura L; Delgado, Pilar P; Dhar, Rajat R; Krupinski, Jerzy J; Delgado-Mederos, Raquel R; Prats-Sánchez, Luis L; Camps-Renom, Pol P; Blay, Natalia N; Sumoy, Lauro L; de Cid, Rafael R; Montaner, Joan J; Cruchaga, Carlos C; Lee, Jin-Moo JM; Martí-Fàbregas, Joan J; Férnandez-Cadenas, Israel I
Identification of deleterious single nucleotide polymorphism (SNP)s in the human TBX5 gene & prediction of their structural & functional consequences: An in silico approach.
Biochemistry And Biophysics Reports
Mahfuz, A M U B AMUB; Khan, Md Arif MA; Deb, Promita P; Ansary, Sharmin Jahan SJ; Jahan, Rownak R
Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.
Npj Systems Biology And Applications
Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A
Genetic Determinants of Electrocardiographic P-Wave Duration and Relation to Atrial Fibrillation.
Circulation. Genomic And Precision Medicine
Weng, Lu-Chen LC; Hall, Amelia Weber AW; Choi, Seung Hoan SH; Jurgens, Sean J SJ; Haessler, Jeffrey J; Bihlmeyer, Nathan A NA; Grarup, Niels N; Lin, Honghuang H; Teumer, Alexander A; Li-Gao, Ruifang R; Yao, Jie J; Guo, Xiuqing X; Brody, Jennifer A JA; Müller-Nurasyid, Martina M; Schramm, Katharina K; Verweij, Niek N; van den Berg, Marten E ME; van Setten, Jessica J; Isaacs, Aaron A; Ramírez, Julia J; Warren, Helen R HR; Padmanabhan, Sandosh S; Kors, Jan A JA; de Boer, Rudolf A RA; van der Meer, Peter P; Sinner, Moritz F MF; Waldenberger, Melanie M; Psaty, Bruce M BM; Taylor, Kent D KD; Völker, Uwe U; Kanters, Jørgen K JK; Li, Man M; Alonso, Alvaro A; Perez, Marco V MV; Vaartjes, Ilonca I; Bots, Michiel L ML; Huang, Paul L PL; Heckbert, Susan R SR; Lin, Henry J HJ; Kornej, Jelena J; Munroe, Patricia B PB; van Duijn, Cornelia M CM; Asselbergs, Folkert W FW; Stricker, Bruno H BH; van der Harst, Pim P; Kääb, Stefan S; Peters, Annette A; Sotoodehnia, Nona N; Rotter, Jerome I JI; Mook-Kanamori, Dennis O DO; Dörr, Marcus M; Felix, Stephan B SB; Linneberg, Allan A; Hansen, Torben T; Arking, Dan E DE; Kooperberg, Charles C; Benjamin, Emelia J EJ; Lunetta, Kathryn L KL; Ellinor, Patrick T PT; Lubitz, Steven A SA
Multi-Ethnic Genome-Wide Association Study of Decomposed Cardioelectric Phenotypes Illustrates Strategies to Identify and Characterize Evidence of Shared Genetic Effects for Complex Traits.
Circulation. Genomic And Precision Medicine
Baldassari, Antoine R AR; Sitlani, Colleen M CM; Highland, Heather M HM; Arking, Dan E DE; Buyske, Steve S; Darbar, Dawood D; Gondalia, Rahul R; Graff, Misa M; Guo, Xiuqing X; Heckbert, Susan R SR; Hindorff, Lucia A LA; Hodonsky, Chani J CJ; Ida Chen, Yii-Der YD; Kaplan, Robert C RC; Peters, Ulrike U; Post, Wendy W; Reiner, Alex P AP; Rotter, Jerome I JI; Shohet, Ralph V RV; Seyerle, Amanda A AA; Sotoodehnia, Nona N; Tao, Ran R; Taylor, Kent D KD; Wojcik, Genevieve L GL; Yao, Jie J; Kenny, Eimear E EE; Lin, Henry J HJ; Soliman, Elsayed Z EZ; Whitsel, Eric A EA; North, Kari E KE; Kooperberg, Charles C; Avery, Christy L CL
Sequence variants with large effects on cardiac electrophysiology and disease.
Nature Communications
Norland, Kristjan K; Sveinbjornsson, Gardar G; Thorolfsdottir, Rosa B RB; Davidsson, Olafur B OB; Tragante, Vinicius V; Rajamani, Sridharan S; Helgadottir, Anna A; Gretarsdottir, Solveig S; van Setten, Jessica J; Asselbergs, Folkert W FW; Sverrisson, Jon Th JT; Stephensen, Sigurdur S SS; Oskarsson, Gylfi G; Sigurdsson, Emil L EL; Andersen, Karl K; Danielsen, Ragnar R; Thorgeirsson, Gudmundur G; Thorsteinsdottir, Unnur U; Arnar, David O DO; Sulem, Patrick P; Holm, Hilma H; Gudbjartsson, Daniel F DF; Stefansson, Kari K
Identification of atrial fibrillation associated genes and functional non-coding variants.
Nature Communications
van Ouwerkerk, Antoinette F AF; Bosada, Fernanda M FM; van Duijvenboden, Karel K; Hill, Matthew C MC; Montefiori, Lindsey E LE; Scholman, Koen T KT; Liu, Jia J; de Vries, Antoine A F AAF; Boukens, Bastiaan J BJ; Ellinor, Patrick T PT; Goumans, Marie José T H MJTH; Efimov, Igor R IR; Nobrega, Marcelo A MA; Barnett, Phil P; Martin, James F JF; Christoffels, Vincent M VM
The role of ESCO2, SALL4 and TBX5 genes in the susceptibility to thalidomide teratogenesis.
Scientific Reports
Gomes, Julia do Amaral JDA; Kowalski, Thayne Woycinck TW; Fraga, Lucas Rosa LR; Macedo, Gabriel S GS; Sanseverino, Maria Teresa Vieira MTV; Schuler-Faccini, Lavínia L; Vianna, Fernanda Sales Luiz FSL
A comparison of two workflows for regulome and transcriptome-based prioritization of genetic variants associated with myocardial mass.
Genetic Epidemiology
Manduchi, Elisabetta E; Hemerich, Daiane D; van Setten, Jessica J; Tragante, Vinicius V; Harakalova, Magdalena M; Pei, Jiayi J; Williams, Scott M SM; van der Harst, Pim P; Asselbergs, Folkert W FW; Moore, Jason H JH
A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.
Common and Rare Coding Genetic Variation Underlying the Electrocardiographic PR Interval.
Circulation. Genomic And Precision Medicine
Lin, Honghuang H; van Setten, Jessica J; Smith, Albert V AV; Bihlmeyer, Nathan A NA; Warren, Helen R HR; Brody, Jennifer A JA; Radmanesh, Farid F; Hall, Leanne L; Grarup, Niels N; Müller-Nurasyid, Martina M; Boutin, Thibaud T; Verweij, Niek N; Lin, Henry J HJ; Li-Gao, Ruifang R; van den Berg, Marten E ME; Marten, Jonathan J; Weiss, Stefan S; Prins, Bram P BP; Haessler, Jeffrey J; Lyytikäinen, Leo-Pekka LP; Mei, Hao H; Harris, Tamara B TB; Launer, Lenore J LJ; Li, Man M; Alonso, Alvaro A; Soliman, Elsayed Z EZ; Connell, John M JM; Huang, Paul L PL; Weng, Lu-Chen LC; Jameson, Heather S HS; Hucker, William W; Hanley, Alan A; Tucker, Nathan R NR; Chen, Yii-Der Ida YI; Bis, Joshua C JC; Rice, Kenneth M KM; Sitlani, Colleen M CM; Kors, Jan A JA; Xie, Zhijun Z; Wen, Chengping C; Magnani, Jared W JW; Nelson, Christopher P CP; Kanters, Jørgen K JK; Sinner, Moritz F MF; Strauch, Konstantin K; Peters, Annette A; Waldenberger, Melanie M; Meitinger, Thomas T; Bork-Jensen, Jette J; Pedersen, Oluf O; Linneberg, Allan A; Rudan, Igor I; de Boer, Rudolf A RA; van der Meer, Peter P; Yao, Jie J; Guo, Xiuqing X; Taylor, Kent D KD; Sotoodehnia, Nona N; Rotter, Jerome I JI; Mook-Kanamori, Dennis O DO; Trompet, Stella S; Rivadeneira, Fernando F; Uitterlinden, André A; Eijgelsheim, Mark M; Padmanabhan, Sandosh S; Smith, Blair H BH; Völzke, Henry H; Felix, Stephan B SB; Homuth, Georg G; Völker, Uwe U; Mangino, Massimo M; Spector, Timothy D TD; Bots, Michiel L ML; Perez, Marco M; Kähönen, Mika M; Raitakari, Olli T OT; Gudnason, Vilmundur V; Arking, Dan E DE; Munroe, Patricia B PB; Psaty, Bruce M BM; van Duijn, Cornelia M CM; Benjamin, Emelia J EJ; Rosand, Jonathan J; Samani, Nilesh J NJ; Hansen, Torben T; Kääb, Stefan S; Polasek, Ozren O; van der Harst, Pim P; Heckbert, Susan R SR; Jukema, J Wouter JW; Stricker, Bruno H BH; Hayward, Caroline C; Dörr, Marcus M; Jamshidi, Yalda Y; Asselbergs, Folkert W FW; Kooperberg, Charles C; Lehtimäki, Terho T; Wilson, James G JG; Ellinor, Patrick T PT; Lubitz, Steven A SA; Isaacs, Aaron A
Large-scale analyses of common and rare variants identify 12 new loci associated with atrial fibrillation.
Nature Genetics
Christophersen, Ingrid E IE; Rienstra, Michiel M; Roselli, Carolina C; Yin, Xiaoyan X; Geelhoed, Bastiaan B; Barnard, John J; Lin, Honghuang H; Arking, Dan E DE; Smith, Albert V AV; Albert, Christine M CM; Chaffin, Mark M; Tucker, Nathan R NR; Li, Molong M; Klarin, Derek D; Bihlmeyer, Nathan A NA; Low, Siew-Kee SK; Weeke, Peter E PE; Müller-Nurasyid, Martina M; Smith, J Gustav JG; Brody, Jennifer A JA; Niemeijer, Maartje N MN; Dörr, Marcus M; Trompet, Stella S; Huffman, Jennifer J; Gustafsson, Stefan S; Schurmann, Claudia C; Kleber, Marcus E ME; Lyytikäinen, Leo-Pekka LP; Seppälä, Ilkka I; Malik, Rainer R; Horimoto, Andrea R V R ARVR; Perez, Marco M; Sinisalo, Juha J; Aeschbacher, Stefanie S; Thériault, Sébastien S; Yao, Jie J; Radmanesh, Farid F; Weiss, Stefan S; Teumer, Alexander A; Choi, Seung Hoan SH; Weng, Lu-Chen LC; Clauss, Sebastian S; Deo, Rajat R; Rader, Daniel J DJ; Shah, Svati H SH; Sun, Albert A; Hopewell, Jemma C JC; Debette, Stephanie S; Chauhan, Ganesh G; Yang, Qiong Q; Worrall, Bradford B BB; Paré, Guillaume G; Kamatani, Yoichiro Y; Hagemeijer, Yanick P YP; Verweij, Niek N; Siland, Joylene E JE; Kubo, Michiaki M; Smith, Jonathan D JD; Van Wagoner, David R DR; Bis, Joshua C JC; Perz, Siegfried S; Psaty, Bruce M BM; Ridker, Paul M PM; Magnani, Jared W JW; Harris, Tamara B TB; Launer, Lenore J LJ; Shoemaker, M Benjamin MB; Padmanabhan, Sandosh S; Haessler, Jeffrey J; Bartz, Traci M TM; Waldenberger, Melanie M; Lichtner, Peter P; Arendt, Marina M; Krieger, Jose E JE; Kähönen, Mika M; Risch, Lorenz L; Mansur, Alfredo J AJ; Peters, Annette A; Smith, Blair H BH; Lind, Lars L; Scott, Stuart A SA; Lu, Yingchang Y; Bottinger, Erwin B EB; Hernesniemi, Jussi J; Lindgren, Cecilia M CM; Wong, Jorge A JA; Huang, Jie J; Eskola, Markku M; Morris, Andrew P AP; Ford, Ian I; Reiner, Alex P AP; Delgado, Graciela G; Chen, Lin Y LY; Chen, Yii-Der Ida YI; Sandhu, Roopinder K RK; Li, Man M; Boerwinkle, Eric E; Eisele, Lewin L; Lannfelt, Lars L; Rost, Natalia N; Anderson, Christopher D CD; Taylor, Kent D KD; Campbell, Archie A; Magnusson, Patrik K PK; Porteous, David D; Hocking, Lynne J LJ; Vlachopoulou, Efthymia E; Pedersen, Nancy L NL; Nikus, Kjell K; Orho-Melander, Marju M; Hamsten, Anders A; Heeringa, Jan J; Denny, Joshua C JC; Kriebel, Jennifer J; Darbar, Dawood D; Newton-Cheh, Christopher C; Shaffer, Christian C; Macfarlane, Peter W PW; Heilmann-Heimbach, Stefanie S; Almgren, Peter P; Huang, Paul L PL; Sotoodehnia, Nona N; Soliman, Elsayed Z EZ; Uitterlinden, Andre G AG; Hofman, Albert A; Franco, Oscar H OH; Völker, Uwe U; Jöckel, Karl-Heinz KH; Sinner, Moritz F MF; Lin, Henry J HJ; Guo, Xiuqing X; , ; , ; Dichgans, Martin M; Ingelsson, Erik E; Kooperberg, Charles C; Melander, Olle O; Loos, Ruth J F RJF; Laurikka, Jari J; Conen, David D; Rosand, Jonathan J; van der Harst, Pim P; Lokki, Marja-Liisa ML; Kathiresan, Sekar S; Pereira, Alexandre A; Jukema, J Wouter JW; Hayward, Caroline C; Rotter, Jerome I JI; März, Winfried W; Lehtimäki, Terho T; Stricker, Bruno H BH; Chung, Mina K MK; Felix, Stephan B SB; Gudnason, Vilmundur V; Alonso, Alvaro A; Roden, Dan M DM; Kääb, Stefan S; Chasman, Daniel I DI; Heckbert, Susan R SR; Benjamin, Emelia J EJ; Tanaka, Toshihiro T; Lunetta, Kathryn L KL; Lubitz, Steven A SA; Ellinor, Patrick T PT; ,
Fine-mapping, novel loci identification, and SNP association transferability in a genome-wide association study of QRS duration in African Americans.
Human Molecular Genetics
Evans, Daniel S DS; Avery, Christy L CL; Nalls, Mike A MA; Li, Guo G; Barnard, John J; Smith, Erin N EN; Tanaka, Toshiko T; Butler, Anne M AM; Buxbaum, Sarah G SG; Alonso, Alvaro A; Arking, Dan E DE; Berenson, Gerald S GS; Bis, Joshua C JC; Buyske, Steven S; Carty, Cara L CL; Chen, Wei W; Chung, Mina K MK; Cummings, Steven R SR; Deo, Rajat R; Eaton, Charles B CB; Fox, Ervin R ER; Heckbert, Susan R SR; Heiss, Gerardo G; Hindorff, Lucia A LA; Hsueh, Wen-Chi WC; Isaacs, Aaron A; Jamshidi, Yalda Y; Kerr, Kathleen F KF; Liu, Felix F; Liu, Yongmei Y; Lohman, Kurt K KK; Magnani, Jared W JW; Maher, Joseph F JF; Mehra, Reena R; Meng, Yan A YA; Musani, Solomon K SK; Newton-Cheh, Christopher C; North, Kari E KE; Psaty, Bruce M BM; Redline, Susan S; Rotter, Jerome I JI; Schnabel, Renate B RB; Schork, Nicholas J NJ; Shohet, Ralph V RV; Singleton, Andrew B AB; Smith, Jonathan D JD; Soliman, Elsayed Z EZ; Srinivasan, Sathanur R SR; Taylor, Herman A HA; Van Wagoner, David R DR; Wilson, James G JG; Young, Taylor T; Zhang, Zhu-Ming ZM; Zonderman, Alan B AB; Evans, Michele K MK; Ferrucci, Luigi L; Murray, Sarah S SS; Tranah, Gregory J GJ; Whitsel, Eric A EA; Reiner, Alex P AP; , ; Sotoodehnia, Nona N
Genetic Modifiers of Patent Ductus Arteriosus in Term Infants.
The Journal Of Pediatrics
Patel, Priti M PM; Momany, Allison M AM; Schaa, Kendra L KL; Romitti, Paul A PA; Druschel, Charlotte C; Cooper, Margaret E ME; Marazita, Mary L ML; Murray, Jeffrey C JC; Dagle, John M JM
Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.
Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
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
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