Publications:

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Clinical and functional characterisation of a recurrent KCNQ1 variant in the Belgian population.

Orphanet Journal Of Rare Diseases

Sieliwonczyk, Ewa E; Alaerts, Maaike M; Simons, Eline E; Snyders, Dirk D; Nijak, Aleksandra A; Vandendriessche, Bert B; Schepers, Dorien D; Akdeniz, Dogan D; Van Craenenbroeck, Emeline E; Knaepen, Katleen K; Rabaut, Laura L; Heidbuchel, Hein H; Van Laer, Lut L; Saenen, Johan J; Labro, Alain J AJ; Loeys, Bart B

Publication Date: 2023-01-31

Variant appearance in text: KCNQ1: R518X

PubMed Link: 36721196

Variant Present in the following documents:

• Main text
• 13023_2023_Article_2618.pdf

View BVdb publication page

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Accelerated QT adaptation following atropine-induced heart rate increase in LQT1 patients versus healthy controls: A sign of disturbed hysteresis.

Physiological Reports

Dahlberg, Pia P; Axelsson, Karl-Jonas KJ; Jensen, Steen M SM; Lundahl, Gunilla G; Vahedi, Farzad F; Perkins, Rosie R; Gransberg, Lennart L; Bergfeldt, Lennart L

Publication Date: 2022-11

Variant appearance in text: LQT1: R518X

PubMed Link: 36324292

Variant Present in the following documents:

• PHY2-10-e15487-s001.pdf

View BVdb publication page

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Presentation and genetic confirmation of long QT syndrome in the fetus.

Heartrhythm Case Reports

Zidere, Vita V; Vigneswaran, Trisha V TV; Dumitrascu-Biris, Ioana I; Regan, William W; Simpson, John M JM; Homfray, Tessa T

Publication Date: 2022-10

Variant appearance in text: KCNQ1: Arg518Ter

PubMed Link: 36310718

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Sex Differences and Utility of Treadmill Testing in Long-QT Syndrome.

Journal Of The American Heart Association

Yee, Lauren A LA; Han, Hui-Chen HC; Davies, Brianna B; Pearman, Charles M CM; Laksman, Zachary W M ZWM; Roberts, Jason D JD; Steinberg, Christian C; Tadros, Rafik R; Cadrin-Tourigny, Julia J; Simpson, Christopher S CS; Gardner, Martin M; MacIntyre, Ciorsti C; Arbour, Laura L; Leather, Richard R; Fournier, Anne A; Green, Martin S MS; Kimber, Shane S; Angaran, Paul P; Sanatani, Shubhayan S; Joza, Jacqueline J; Khan, Habib H; Healey, Jeffrey S JS; Atallah, Joseph J; Seifer, Colette C; Krahn, Andrew D AD

Publication Date: 2022-09-20

Variant appearance in text: KCNQ1: Arg518*

PubMed Link: 36102233

Variant Present in the following documents:

• JAH3-11-e025108-s001.pdf
• JAH3-11-e025108.pdf

View BVdb publication page

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Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes.

Nature Communications

Halford, Jennifer L JL; Morrill, Valerie N VN; Choi, Seung Hoan SH; Jurgens, Sean J SJ; Melloni, Giorgio G; Marston, Nicholas A NA; Weng, Lu-Chen LC; Nauffal, Victor V; Hall, Amelia W AW; Gunn, Sophia S; Austin-Tse, Christina A CA; Pirruccello, James P JP; Khurshid, Shaan S; Rehm, Heidi L HL; Benjamin, Emelia J EJ; Boerwinkle, Eric E; Brody, Jennifer A JA; Correa, Adolfo A; Fornwalt, Brandon K BK; Gupta, Namrata N; Haggerty, Christopher M CM; Harris, Stephanie S; Heckbert, Susan R SR; Hong, Charles C CC; Kooperberg, Charles C; Lin, Henry J HJ; Loos, Ruth J F RJF; Mitchell, Braxton D BD; Morrison, Alanna C AC; Post, Wendy W; Psaty, Bruce M BM; Redline, Susan S; Rice, Kenneth M KM; Rich, Stephen S SS; Rotter, Jerome I JI; Schnatz, Peter F PF; Soliman, Elsayed Z EZ; Sotoodehnia, Nona N; Wong, Eugene K EK; , ; Sabatine, Marc S MS; Ruff, Christian T CT; Lunetta, Kathryn L KL; Ellinor, Patrick T PT; Lubitz, Steven A SA

Publication Date: 2022-08-30

Variant appearance in text: KCNQ1: 1552C>T; Arg518Ter; rs17215500

PubMed Link: 36042188

Variant Present in the following documents:

• 41467_2022_32009_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing.

Jama Cardiology

Dellefave-Castillo, Lisa M LM; Cirino, Allison L AL; Callis, Thomas E TE; Esplin, Edward D ED; Garcia, John J; Hatchell, Kathryn E KE; Johnson, Britt B; Morales, Ana A; Regalado, Ellen E; Rojahn, Susan S; Vatta, Matteo M; Nussbaum, Robert L RL; McNally, Elizabeth M EM

Publication Date: 2022-09-01

Variant appearance in text: KCNQ1: 1552C>T; Arg518*

PubMed Link: 35947370

Variant Present in the following documents:

• jamacardiol-e222455-s002.xlsx, sheet 1

View BVdb publication page

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Membrane pools of phosphatidylinositol-4-phosphate regulate KCNQ1/KCNE1 membrane expression.

Communications Biology

Braun, Chen C; Parks, Xiaorong Xu XX; Qudsi, Haani H; Lopes, Coeli M B CMB

Publication Date: 2021-12-14

Variant appearance in text: KCNQ1: R518X

PubMed Link: 34907346

Variant Present in the following documents:

• Main text
• 42003_2021_Article_2909.pdf

View BVdb publication page

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Membrane pools of phosphatidylinositol-4-phosphate regulate KCNQ1/KCNE1 membrane expression.

Communications Biology

Braun, Chen C; Parks, Xiaorong Xu XX; Qudsi, Haani H; Lopes, Coeli M B CMB

Publication Date: 2021-12-14

Variant appearance in text: KCNQ1: R518X

PubMed Link: 34907346

Variant Present in the following documents:

• Main text
• 42003_2021_Article_2909.pdf

View BVdb publication page

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Ataluren-Promising Therapeutic Premature Termination Codon Readthrough Frontrunner.

Pharmaceuticals (Basel, Switzerland)

Michorowska, Sylwia S

Publication Date: 2021-08-09

Variant appearance in text: LQT1: R518X

PubMed Link: 34451881

Variant Present in the following documents:

• Main text
• pharmaceuticals-14-00785.pdf

View BVdb publication page

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Genetic variants associated with inherited cardiovascular disorders among 13,131 asymptomatic older adults of European descent.

Npj Genomic Medicine

Lacaze, Paul P; Sebra, Robert R; Riaz, Moeen M; Ingles, Jodie J; Tiller, Jane J; Thompson, Bryony A BA; James, Paul A PA; Fatkin, Diane D; Semsarian, Christopher C; Reid, Christopher M CM; Tonkin, Andrew M AM; Winship, Ingrid I; Schadt, Eric E; McNeil, John J JJ

Publication Date: 2021-06-16

Variant appearance in text: KCNQ1: Arg518Ter; rs17215500

PubMed Link: 34135346

Variant Present in the following documents:

• Main text
• 41525_2021_211_MOESM1_ESM.xlsx, sheet 1
• 41525_2021_Article_211.pdf

View BVdb publication page

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The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine

Xiao, Qingyang Q; Lauschke, Volker M VM

Publication Date: 2021-06-02

Variant appearance in text: KCNQ1: 1552C>T; Arg518Ter; rs17215500

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Penetrance and outcomes at 1-year following return of actionable variants identified by genome sequencing.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Lee, Christopher C; Elsekaily, Omar O; Kochan, David C DC; Alhalabi, Lubna L; Faizee, Faizan F; Sharp, Richard R; Lindor, Noralane M NM; Kullo, Iftikhar J IJ

Publication Date: 2021-07

Variant appearance in text: KCNQ1: 1552C>T; Arg518*

PubMed Link: 33824501

Variant Present in the following documents:

• NIHMS1700422-supplement-Supplementary___Appendix__online_only_material__etc___2.pdf

View BVdb publication page

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Long-QT founder variant T309I-Kv7.1 with dominant negative pattern may predispose delayed afterdepolarizations under β-adrenergic stimulation.

Scientific Reports

Synková, Iva I; Bébarová, Markéta M; Andršová, Irena I; Chmelikova, Larisa L; Švecová, Olga O; Hošek, Jan J; Pásek, Michal M; Vít, Pavel P; Valášková, Iveta I; Gaillyová, Renata R; Navrátil, Rostislav R; Novotný, Tomáš T

Publication Date: 2021-02-11

Variant appearance in text: KCNQ1: R518X

PubMed Link: 33574382

Variant Present in the following documents:

• 41598_2021_Article_81670.pdf

View BVdb publication page

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Whole-exome mutational landscape of neuroendocrine carcinomas of the gallbladder.

Signal Transduction And Targeted Therapy

Liu, Fatao F; Li, Yongsheng Y; Ying, Dongjian D; Qiu, Shimei S; He, Yong Y; Li, Maolan M; Liu, Yun Y; Zhang, Yijian Y; Zhu, Qin Q; Hu, Yunping Y; Liu, Liguo L; Li, Guoqiang G; Pan, Weihua W; Jin, Wei W; Mu, Jiasheng J; Cao, Yang Y; Liu, Yingbin Y

Publication Date: 2021-02-10

Variant appearance in text: KCNQ1: Arg518*

PubMed Link: 33563892

Variant Present in the following documents:

• 41392_2020_412_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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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: KCNQ1: 1552C>T

PubMed Link: 33141630

Variant Present in the following documents:

• Main text
• hcg-13-e003133-s003.pdf
• hcg-13-e003133.pdf

View BVdb publication page

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Automatic identification of a stable QRST complex for non-invasive evaluation of human cardiac electrophysiology.

Plos One

Lundahl, Gunilla G; Gransberg, Lennart L; Bergqvist, Gabriel G; Bergström, Göran G; Bergfeldt, Lennart L

Publication Date: 2020

Variant appearance in text: KCNQ1: R518X

PubMed Link: 32941513

Variant Present in the following documents:

• pone.0239074.pdf

View BVdb publication page

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

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

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

Publication Date: 2021-01

Variant appearance in text: KCNQ1: 1552C>T; Arg518*

PubMed Link: 32893267

Variant Present in the following documents:

• 41436_2020_946_MOESM2_ESM.xlsx, sheet 4
• 41436_2020_946_MOESM2_ESM.xlsx, sheet 10

View BVdb publication page

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mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: KCNQ1: R518*

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

View BVdb publication page

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Frequency of genomic secondary findings among 21,915 eMERGE network participants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

,

Publication Date: 2020-09

Variant appearance in text: KCNQ1: 1552C>T; Arg518*

PubMed Link: 32546831

Variant Present in the following documents:

• NIHMS1615423-supplement-Supplementary_Table_2.xlsx, sheet 1

View BVdb publication page

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Genetic Testing for Inherited Cardiac Arrhythmias: Current State-of-the-Art and Future Avenues.

The Journal Of Innovations In Cardiac Rhythm Management

Hylind, Robyn J RJ; Chandler, Stephanie F SF; Skinner, Jonathan R JR; Abrams, Dominic J DJ

Publication Date: 2018-11

Variant appearance in text: KCNQ1: R518X

PubMed Link: 32494476

Variant Present in the following documents:

• Main text
• icrm-09-3406.pdf

View BVdb publication page

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Complex and Novel Arrhythmias Precede Stillbirth in Fetuses With De Novo Long QT Syndrome.

Circulation. Arrhythmia And Electrophysiology

Strand, Sarah S; Strasburger, Janette F JF; Cuneo, Bettina F BF; Wakai, Ronald T RT

Publication Date: 2020-05

Variant appearance in text: KCNQ1: R518X

PubMed Link: 32421437

Variant Present in the following documents:

• Main text

View BVdb publication page

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Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology

Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M

Publication Date: 2020-01-07

Variant appearance in text: KCNQ1: R518*

PubMed Link: 31925297

Variant Present in the following documents:

• 42003_2019_736_MOESM13_ESM.xlsx, sheet 1

View BVdb publication page

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Genome sequencing for early-onset or atypical dementia: high diagnostic yield and frequent observation of multiple contributory alleles.

Cold Spring Harbor Molecular Case Studies

Cochran, J Nicholas JN; McKinley, Emily C EC; Cochran, Meagan M; Amaral, Michelle D MD; Moyers, Bryan A BA; Lasseigne, Brittany N BN; Gray, David E DE; Lawlor, James M J JMJ; Prokop, Jeremy W JW; Geier, Ethan G EG; Holt, James M JM; Thompson, Michelle L ML; Newberry, J Scott JS; Yokoyama, Jennifer S JS; Worthey, Elizabeth A EA; Geldmacher, David S DS; Love, Marissa Natelson MN; Cooper, Gregory M GM; Myers, Richard M RM; Roberson, Erik D ED

Publication Date: 2019-12

Variant appearance in text: KCNQ1: 1552C>T; Arg518*; rs17215500

PubMed Link: 31836585

Variant Present in the following documents:

• Main text
• MCS003491Coc.pdf
• supp_mcs.a003491_Supplemental_Table_1.xlsx, sheet 1
• supp_mcs.a003491_Supplemental_Material.pdf

View BVdb publication page

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Compound and heterozygous mutations of KCNQ1 in long QT syndrome with familial history of unexplained sudden death: Identified by analysis of whole exome sequencing and predisposing genes.

Annals Of Noninvasive Electrocardiology : The Official Journal Of The International Society For Holter And Noninvasive Electrocardiology, Inc

Lin, Yubi Y; Zhao, Ting T; He, Siqi S; Huang, Jiana J; Liu, Qianru Q; Yang, Zhe Z; Qin, Jiading J; Yu, Nan N; Lu, Hongyun H; Lin, Xiufang X

Publication Date: 2020-01

Variant appearance in text: KCNQ1: R518X

PubMed Link: 31565860

Variant Present in the following documents:

• Main text
• ANEC-25-e12694.pdf

View BVdb publication page

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Heritability in genetic heart disease: the role of genetic background.

Open Heart

Jansweijer, Joeri A JA; van Spaendonck-Zwarts, Karin Y KY; Tanck, Michael W T MWT; van Tintelen, J Peter JP; Christiaans, Imke I; van der Smagt, Jasper J; Vermeer, Alexa A; Bos, J Martijn JM; Moss, Arthur J AJ; Swan, Heikki H; Priori, Sylvia G SG; Rydberg, Annika A; Tfelt-Hansen, Jacob J; Ackerman, Michael J MJ; Olivotto, Iacopo I; Charron, Philippe P; Gimeno, Juan R JR; van den Berg, Maarten M; Wilde, Arthur A M AAM; Pinto, Yigal M YM

Publication Date: 2019

Variant appearance in text: KCNQ1: R518*

PubMed Link: 31245010

Variant Present in the following documents:

• openhrt-2018-000929supp001.pdf

View BVdb publication page

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Exercise worsening of electromechanical disturbances: A predictor of arrhythmia in long QT syndrome.

Clinical Cardiology

Charisopoulou, Dafni D; Koulaouzidis, George G; Rydberg, Annika A; Michael, Henein Y HY

Publication Date: 2019-02

Variant appearance in text: LQT1: R518X

PubMed Link: 30537240

Variant Present in the following documents:

• CLC-42-235.pdf

View BVdb publication page

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Fetal heart rate reflects mutation burden and clinical outcome in twin probands with KCNQ1 mutations.

Heartrhythm Case Reports

Winbo, Annika A; Rydberg, Annika A

Publication Date: 2018-06

Variant appearance in text: LQT1: R518X

PubMed Link: 29922582

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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The Role of KCNQ1 Mutations and Maternal Beta Blocker Use During Pregnancy in the Growth of Children With Long QT Syndrome.

Frontiers In Endocrinology

Huttunen, Heta H; Hero, Matti M; Lääperi, Mitja M; Känsäkoski, Johanna J; Swan, Heikki H; Hirsch, Joel A JA; Miettinen, Päivi J PJ; Raivio, Taneli T

Publication Date: 2018

Variant appearance in text: LQT1: Arg518Ter

PubMed Link: 29740400

Variant Present in the following documents:

• Main text
• fendo-09-00194.pdf

View BVdb publication page

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The genetic architecture of long QT syndrome: A critical reappraisal.

Trends In Cardiovascular Medicine

Giudicessi, John R JR; Wilde, Arthur A M AAM; Ackerman, Michael J MJ

Publication Date: 2018-10

Variant appearance in text: KCNQ1: Arg518Ter

PubMed Link: 29661707

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genotype-phenotype-guided medical and surgical intervention in long QT syndrome.

Heartrhythm Case Reports

Hylind, Robyn J RJ; Ladouceur, Virginie Beausejour VB; Fynn-Thompson, Francis F; Hourigan, Shannon E SE; Bezzerides, Vassilios J VJ; Abrams, Dominic J DJ

Publication Date: 2018-01

Variant appearance in text: KCNQ1: 1552C>T

PubMed Link: 29379719

Variant Present in the following documents:

• Main text

View BVdb publication page

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Novel frameshift mutation in the KCNQ1 gene responsible for Jervell and Lange-Nielsen syndrome.

Iranian Journal Of Basic Medical Sciences

Amirian, Azam A; Dalili, Seyed Mohammad SM; Zafari, Zahra Z; Saber, Siamak S; Karimipoor, Morteza M; Akbari, Vahid V; Fazelifar, Amir Farjam AF; Zeinali, Sirous S

Publication Date: 2018-01

Variant appearance in text: KCNQ1: R518X

PubMed Link: 29372044

Variant Present in the following documents:

• Main text
• IJBMS-21-108.pdf

View BVdb publication page

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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: KCNQ1: 1552C>T; rs17215500

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Sex is a moderator of the association between NOS1AP sequence variants and QTc in two long QT syndrome founder populations: a pedigree-based measured genotype association analysis.

Bmc Medical Genetics

Winbo, Annika A; Stattin, Eva-Lena EL; Westin, Ida Maria IM; Norberg, Anna A; Persson, Johan J; Jensen, Steen M SM; Rydberg, Annika A

Publication Date: 2017-07-18

Variant appearance in text: KCNQ1: R518*

PubMed Link: 28720088

Variant Present in the following documents:

• Main text

View BVdb publication page

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Rare disruptive variants in the DISC1 Interactome and Regulome: association with cognitive ability and schizophrenia.

Molecular Psychiatry

Teng, S S; Thomson, P A PA; McCarthy, S S; Kramer, M M; Muller, S S; Lihm, J J; Morris, S S; Soares, D C DC; Hennah, W W; Harris, S S; Camargo, L M LM; Malkov, V V; McIntosh, A M AM; Millar, J K JK; Blackwood, D H DH; Evans, K L KL; Deary, I J IJ; Porteous, D J DJ; McCombie, W R WR

Publication Date: 2018-05

Variant appearance in text: rs17215500

PubMed Link: 28630456

Variant Present in the following documents:

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: KCNQ1: 1552C>T; Arg518Ter

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation.

Genome Medicine

Kobayashi, Yuya Y; Yang, Shan S; Nykamp, Keith K; Garcia, John J; Lincoln, Stephen E SE; Topper, Scott E SE

Publication Date: 2017-02-06

Variant appearance in text: KCNQ1: 1552C>T; Arg518*

PubMed Link: 28166811

Variant Present in the following documents:

• 13073_2017_403_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

Plos One

LaDuca, Holly H; Farwell, Kelly D KD; Vuong, Huy H; Lu, Hsiao-Mei HM; Mu, Wenbo W; Shahmirzadi, Layla L; Tang, Sha S; Chen, Jefferey J; Bhide, Shruti S; Chao, Elizabeth C EC

Publication Date: 2017

Variant appearance in text: KCNQ1: 1552C>T; R518*

PubMed Link: 28152038

Variant Present in the following documents:

• pone.0170843.s003.xlsx, sheet 1
• pone.0170843.s004.xlsx, sheet 1

View BVdb publication page

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Aggregate penetrance of genomic variants for actionable disorders in European and African Americans.

Science Translational Medicine

Natarajan, Pradeep P; Gold, Nina B NB; Bick, Alexander G AG; McLaughlin, Heather H; Kraft, Peter P; Rehm, Heidi L HL; Peloso, Gina M GM; Wilson, James G JG; Correa, Adolfo A; Seidman, Jonathan G JG; Seidman, Christine E CE; Kathiresan, Sekar S; Green, Robert C RC

Publication Date: 2016-11-09

Variant appearance in text: KCNQ1: 1552C>T; Arg518*

PubMed Link: 27831900

Variant Present in the following documents:

• Main text

View BVdb publication page

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Molecular Pathophysiology of Congenital Long QT Syndrome.

Physiological Reviews

Bohnen, M S MS; Peng, G G; Robey, S H SH; Terrenoire, C C; Iyer, V V; Sampson, K J KJ; Kass, R S RS

Publication Date: 2017-01

Variant appearance in text: LQT1: R518X

PubMed Link: 27807201

Variant Present in the following documents:

• Main text

View BVdb publication page

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Molecular pathogenesis of long QT syndrome type 1.

Journal Of Arrhythmia

Wu, Jie J; Ding, Wei-Guang WG; Horie, Minoru M

Publication Date: 2016-10

Variant appearance in text: KCNQ1: R518X

PubMed Link: 27761162

Variant Present in the following documents:

• Main text
• main.pdf

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Clinical Genetic Testing for the Cardiomyopathies and Arrhythmias: A Systematic Framework for Establishing Clinical Validity and Addressing Genotypic and Phenotypic Heterogeneity.

Frontiers In Cardiovascular Medicine

Garcia, John J; Tahiliani, Jackie J; Johnson, Nicole Marie NM; Aguilar, Sienna S; Beltran, Daniel D; Daly, Amy A; Decker, Emily E; Haverfield, Eden E; Herrera, Blanca B; Murillo, Laura L; Nykamp, Keith K; Topper, Scott S

Publication Date: 2016

Variant appearance in text: KCNQ1: Arg518*

PubMed Link: 27446933

Variant Present in the following documents:

• Main text
• fcvm-03-00020.pdf

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Partial Duplication and Poly(A) Insertion in KCNQ1 Not Detected by Next-Generation Sequencing in Jervell and Lange-Nielsen Syndrome.

Circulation. Arrhythmia And Electrophysiology

Bersell, Kevin K; Montgomery, Jay A JA; Kanagasundram, Arvindh N AN; Campbell, Courtney M CM; Chung, Wendy K WK; Macaya, Daniela D; Konecki, David D; Venter, Eli E; Shoemaker, M Benjamin MB; Roden, Dan M DM

Publication Date: 2016-06

Variant appearance in text: KCNQ1: R518X

PubMed Link: 27286732

Variant Present in the following documents:

• Main text

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QT Adaptation and Intrinsic QT Variability in Congenital Long QT Syndrome.

Journal Of The American Heart Association

Seethala, Srikanth S; Singh, Prabhpreet P; Shusterman, Vladimir V; Ribe, Margareth M; Haugaa, Kristina H KH; Němec, Jan J

Publication Date: 2015-12-16

Variant appearance in text: LQT1: 1552C>T

PubMed Link: 26675252

Variant Present in the following documents:

• Main text
• JAH3-4-e002395.pdf

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Screen-based identification and validation of four new ion channels as regulators of renal ciliogenesis.

Journal Of Cell Science

Slaats, Gisela G GG; Wheway, Gabrielle G; Foletto, Veronica V; Szymanska, Katarzyna K; van Balkom, Bas W M BW; Logister, Ive I; Den Ouden, Krista K; Keijzer-Veen, Mandy G MG; Lilien, Marc R MR; Knoers, Nine V NV; Johnson, Colin A CA; Giles, Rachel H RH

Publication Date: 2015-12-15

Variant appearance in text: KCNQ1: 1552C>T; R518X

PubMed Link: 26546361

Variant Present in the following documents:

• Main text

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Stop-codon and C-terminal nonsense mutations are associated with a lower risk of cardiac events in patients with long QT syndrome type 1.

Heart Rhythm

Ruwald, Martin H MH; Xu Parks, Xiaorong X; Moss, Arthur J AJ; Zareba, Wojciech W; Baman, Jayson J; McNitt, Scott S; Kanters, Jorgen K JK; Shimizu, Wataru W; Wilde, Arthur A AA; Jons, Christian C; Lopes, Coeli M CM

Publication Date: 2016-01

Variant appearance in text: KCNQ1: R518X

PubMed Link: 26318259

Variant Present in the following documents:

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We only find what we look for: fetal heart rate and the diagnosis of long-QT syndrome.

Circulation. Arrhythmia And Electrophysiology

Cuneo, Bettina F BF; Strasburger, Janette F JF

Publication Date: 2015-08

Variant appearance in text: KCNQ1: R518X

PubMed Link: 26286300

Variant Present in the following documents:

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Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death.

Human Genomics

Li, Mindy H MH; Abrudan, Jenica L JL; Dulik, Matthew C MC; Sasson, Ariella A; Brunton, Joshua J; Jayaraman, Vijayakumar V; Dugan, Noreen N; Haley, Danielle D; Rajagopalan, Ramakrishnan R; Biswas, Sawona S; Sarmady, Mahdi M; DeChene, Elizabeth T ET; Deardorff, Matthew A MA; Wilkens, Alisha A; Noon, Sarah E SE; Scarano, Maria I MI; Santani, Avni B AB; White, Peter S PS; Pennington, Jeffrey J; Conlin, Laura K LK; Spinner, Nancy B NB; Krantz, Ian D ID; Vetter, Victoria L VL

Publication Date: 2015-07-19

Variant appearance in text: KCNQ1: 1552C>T

PubMed Link: 26187847

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Targeted massively parallel sequencing of autism spectrum disorder-associated genes in a case control cohort reveals rare loss-of-function risk variants.

Molecular Autism

Griswold, Anthony J AJ; Dueker, Nicole D ND; Van Booven, Derek D; Rantus, Joseph A JA; Jaworski, James M JM; Slifer, Susan H SH; Schmidt, Michael A MA; Hulme, William W; Konidari, Ioanna I; Whitehead, Patrice L PL; Cuccaro, Michael L ML; Martin, Eden R ER; Haines, Jonathan L JL; Gilbert, John R JR; Hussman, John P JP; Pericak-Vance, Margaret A MA

Publication Date: 2015

Variant appearance in text: KCNQ1: R518X

PubMed Link: 26185613

Variant Present in the following documents:

• 13229_2015_34_MOESM3_ESM.xlsx, sheet 1

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