Publications:

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: KCNE2: T10M; rs199473648

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7

View BVdb publication page

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Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.

Frontiers In Pharmacology

Brewer, Kathryn R KR; Kuenze, Georg G; Vanoye, Carlos G CG; George, Alfred L AL; Meiler, Jens J; Sanders, Charles R CR

Publication Date: 2020

Variant appearance in text: KCNE2: T10M

PubMed Link: 32431610

Variant Present in the following documents:

• Main text

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: KCNE2: 29C>T; Thr10Met; rs199473648

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

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Reanalysis and reclassification of rare genetic variants associated with inherited arrhythmogenic syndromes.

Ebiomedicine

Campuzano, Oscar O; Sarquella-Brugada, Georgia G; Fernandez-Falgueras, Anna A; Coll, Mónica M; Iglesias, Anna A; Ferrer-Costa, Carles C; Cesar, Sergi S; Arbelo, Elena E; García-Álvarez, Ana A; Jordà, Paloma P; Toro, Rocío R; Tiron de Llano, Coloma C; Grassi, Simone S; Oliva, Antonio A; Brugada, Josep J; Brugada, Ramon R

Publication Date: 2020-04

Variant appearance in text: KCNE2: 29C>T; Thr10Met; rs199473648

PubMed Link: 32268277

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Precision Health Resource of Control iPSC Lines for Versatile Multilineage Differentiation.

Stem Cell Reports

Hildebrandt, Matthew R MR; Reuter, Miriam S MS; Wei, Wei W; Tayebi, Naeimeh N; Liu, Jiajie J; Sharmin, Sazia S; Mulder, Jaap J; Lesperance, L Stephen LS; Brauer, Patrick M PM; Mok, Rebecca S F RSF; Kinnear, Caroline C; Piekna, Alina A; Romm, Asli A; Howe, Jennifer J; Pasceri, Peter P; Meng, Guoliang G; Rozycki, Matthew M; Rodrigues, Deivid C DC; Martinez, Elisa C EC; Szego, Michael J MJ; Zúñiga-Pflücker, Juan C JC; Anderson, Michele K MK; Prescott, Steven A SA; Rosenblum, Norman D ND; Kamath, Binita M BM; Mital, Seema S; Scherer, Stephen W SW; Ellis, James J

Publication Date: 2019-12-10

Variant appearance in text: KCNE2: 29C>T; Thr10Met

PubMed Link: 31813827

Variant Present in the following documents:

• mmc1.pdf
• mmc4.pdf

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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: KCNE2: Thr10Met

PubMed Link: 29661707

Variant Present in the following documents:

• Main text

View BVdb publication page

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The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants.

Cmaj : Canadian Medical Association Journal = Journal De L'Association Medicale Canadienne

Reuter, Miriam S MS; Walker, Susan S; Thiruvahindrapuram, Bhooma B; Whitney, Joe J; Cohn, Iris I; Sondheimer, Neal N; Yuen, Ryan K C RKC; Trost, Brett B; Paton, Tara A TA; Pereira, Sergio L SL; Herbrick, Jo-Anne JA; Wintle, Richard F RF; Merico, Daniele D; Howe, Jennifer J; MacDonald, Jeffrey R JR; Lu, Chao C; Nalpathamkalam, Thomas T; Sung, Wilson W L WWL; Wang, Zhuozhi Z; Patel, Rohan V RV; Pellecchia, Giovanna G; Wei, John J; Strug, Lisa J LJ; Bell, Sherilyn S; Kellam, Barbara B; Mahtani, Melanie M MM; Bassett, Anne S AS; Bombard, Yvonne Y; Weksberg, Rosanna R; Shuman, Cheryl C; Cohn, Ronald D RD; Stavropoulos, Dimitri J DJ; Bowdin, Sarah S; Hildebrandt, Matthew R MR; Wei, Wei W; Romm, Asli A; Pasceri, Peter P; Ellis, James J; Ray, Peter P; Meyn, M Stephen MS; Monfared, Nasim N; Hosseini, S Mohsen SM; Joseph-George, Ann M AM; Keeley, Fred W FW; Cook, Ryan A RA; Fiume, Marc M; Lee, Hin C HC; Marshall, Christian R CR; Davies, Jill J; Hazell, Allison A; Buchanan, Janet A JA; Szego, Michael J MJ; Scherer, Stephen W SW

Publication Date: 2018-02-05

Variant appearance in text: KCNE2: 29C>T; Thr10Met

PubMed Link: 29431110

Variant Present in the following documents:

• Main text

View BVdb publication page

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Estimating the mutational load for cardiovascular diseases in Pakistani population.

Plos One

Shakeel, Muhammad M; Irfan, Muhammad M; Khan, Ishtiaq Ahmad IA

Publication Date: 2018

Variant appearance in text: rs199473648

PubMed Link: 29420653

Variant Present in the following documents:

• pone.0192446.s009.xlsx, sheet 2

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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: KCNE2: 29C>T

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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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: KCNE2: T10M

PubMed Link: 27807201

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic investigation of 100 heart genes in sudden unexplained death victims in a forensic setting.

European Journal Of Human Genetics : Ejhg

Christiansen, Sofie Lindgren SL; Hertz, Christin Løth CL; Ferrero-Miliani, Laura L; Dahl, Morten M; Weeke, Peter Ejvin PE; LuCamp, ; Ottesen, Gyda Lolk GL; Frank-Hansen, Rune R; Bundgaard, Henning H; Morling, Niels N

Publication Date: 2016-12

Variant appearance in text: KCNE2: 29C>T; T10M; rs199473648

PubMed Link: 27650965

Variant Present in the following documents:

• Main text

View BVdb publication page

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: KCNE2: 29C>T; T10M

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

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Whole-Genome Sequencing Suggests Schizophrenia Risk Mechanisms in Humans with 22q11.2 Deletion Syndrome.

G3 (Bethesda, Md.)

Merico, Daniele D; Zarrei, Mehdi M; Costain, Gregory G; Ogura, Lucas L; Alipanahi, Babak B; Gazzellone, Matthew J MJ; Butcher, Nancy J NJ; Thiruvahindrapuram, Bhooma B; Nalpathamkalam, Thomas T; Chow, Eva W C EW; Andrade, Danielle M DM; Frey, Brendan J BJ; Marshall, Christian R CR; Scherer, Stephen W SW; Bassett, Anne S AS

Publication Date: 2015-09-16

Variant appearance in text: rs199473648

PubMed Link: 26384369

Variant Present in the following documents:

• supp_g3.115.021345_TableS1.xlsx, sheet 1

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The KCNE2 K⁺ channel regulatory subunit: Ubiquitous influence, complex pathobiology.

Gene

Abbott, Geoffrey W GW

Publication Date: 2015-09-15

Variant appearance in text: KCNE2: T10M

PubMed Link: 26123744

Variant Present in the following documents:

• Main text

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Integrated analysis of germline and somatic variants in ovarian cancer.

Nature Communications

Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L

Publication Date: 2014

Variant appearance in text: KCNE2: T10M

PubMed Link: 24448499

Variant Present in the following documents:

• NIHMS551112-supplement-7.xlsx, sheet 1

View BVdb publication page

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Kcne2 deletion creates a multisystem syndrome predisposing to sudden cardiac death.

Circulation. Cardiovascular Genetics

Hu, Zhaoyang Z; Kant, Ritu R; Anand, Marie M; King, Elizabeth C EC; Krogh-Madsen, Trine T; Christini, David J DJ; Abbott, Geoffrey W GW

Publication Date: 2014-02

Variant appearance in text: KCNE2: T10M

PubMed Link: 24403551

Variant Present in the following documents:

• Main text

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Cardiac channel molecular autopsy: insights from 173 consecutive cases of autopsy-negative sudden unexplained death referred for postmortem genetic testing.

Mayo Clinic Proceedings

Tester, David J DJ; Medeiros-Domingo, Argelia A; Will, Melissa L ML; Haglund, Carla M CM; Ackerman, Michael J MJ

Publication Date: 2012-06

Variant appearance in text: KCNE2: T10M

PubMed Link: 22677073

Variant Present in the following documents:

• Main text

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KCNE2 and the K (+) channel: the tail wagging the dog.

Channels (Austin, Tex.)

Abbott, Geoffrey W GW

Publication Date: 2012

Variant appearance in text: KCNE2: T10M

PubMed Link: 22513486

Variant Present in the following documents:

• Main text

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Mutations in the cardiac L-type calcium channel associated with inherited J-wave syndromes and sudden cardiac death.

Heart Rhythm

Burashnikov, Elena E; Pfeiffer, Ryan R; Barajas-Martinez, Héctor H; Delpón, Eva E; Hu, Dan D; Desai, Mayurika M; Borggrefe, Martin M; Häissaguerre, Michel M; Kanter, Ronald R; Pollevick, Guido D GD; Guerchicoff, Alejandra A; Laiño, Ruben R; Marieb, Mark M; Nademanee, Koonlawee K; Nam, Gi-Byoung GB; Robles, Roberto R; Schimpf, Rainer R; Stapleton, Dwight D DD; Viskin, Sami S; Winters, Stephen S; Wolpert, Christian C; Zimmern, Samuel S; Veltmann, Christian C; Antzelevitch, Charles C

Publication Date: 2010-12

Variant appearance in text: KCNE2: T10M

PubMed Link: 20817017

Variant Present in the following documents:

• Main text

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