Publications:

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Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.

Human Genetics

Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ

Publication Date: 2023-04-22

Variant appearance in text: KCNQ1: 436G>A; Glu146Lys

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Shared and distinct ultra-rare genetic risk for diverse epilepsies: A whole-exome sequencing study of 54,423 individuals across multiple genetic ancestries.

Medrxiv : The Preprint Server For Health Sciences

, ; Chen, Siwei S; Neale, Benjamin M BM; Berkovic, Samuel F SF

Publication Date: 2023-02-24

Variant appearance in text: KCNQ1: 436G>A; Glu146Lys

PubMed Link: 36865150

Variant Present in the following documents:

• media-2.xlsx, sheet 9

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: 436G>A; Glu146Lys; rs199472688

PubMed Link: 36042188

Variant Present in the following documents:

• 41467_2022_32009_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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2020 APHRS/HRS expert consensus statement on the investigation of decedents with sudden unexplained death and patients with sudden cardiac arrest, and of their families.

Journal Of Arrhythmia

Stiles, Martin K MK; Wilde, Arthur A M AAM; Abrams, Dominic J DJ; Ackerman, Michael J MJ; Albert, Christine M CM; Behr, Elijah R ER; Chugh, Sumeet S SS; Cornel, Martina C MC; Gardner, Karen K; Ingles, Jodie J; James, Cynthia A CA; Juang, Jyh-Ming Jimmy JJ; Kääb, Stefan S; Kaufman, Elizabeth S ES; Krahn, Andrew D AD; Lubitz, Steven A SA; MacLeod, Heather H; Morillo, Carlos A CA; Nademanee, Koonlawee K; Probst, Vincent V; Saarel, Elizabeth V EV; Sacilotto, Luciana L; Semsarian, Christopher C; Sheppard, Mary N MN; Shimizu, Wataru W; Skinner, Jonathan R JR; Tfelt-Hansen, Jacob J; Wang, Dao Wu DW

Publication Date: 2021-06

Variant appearance in text: KCNQ1: E146K

PubMed Link: 34141003

Variant Present in the following documents:

• JOA3-37-481-s001.pdf

View BVdb publication page

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Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics

Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM

Publication Date: 2020-12

Variant appearance in text: KCNQ1: 436G>A; E146K

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

View BVdb publication page

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2020 APHRS/HRS expert consensus statement on the investigation of decedents with sudden unexplained death and patients with sudden cardiac arrest, and of their families.

Heart Rhythm

Stiles, Martin K MK; Wilde, Arthur A M AAM; Abrams, Dominic J DJ; Ackerman, Michael J MJ; Albert, Christine M CM; Behr, Elijah R ER; Chugh, Sumeet S SS; Cornel, Martina C MC; Gardner, Karen K; Ingles, Jodie J; James, Cynthia A CA; Jimmy Juang, Jyh-Ming JM; Kääb, Stefan S; Kaufman, Elizabeth S ES; Krahn, Andrew D AD; Lubitz, Steven A SA; MacLeod, Heather H; Morillo, Carlos A CA; Nademanee, Koonlawee K; Probst, Vincent V; Saarel, Elizabeth V EV; Sacilotto, Luciana L; Semsarian, Christopher C; Sheppard, Mary N MN; Shimizu, Wataru W; Skinner, Jonathan R JR; Tfelt-Hansen, Jacob J; Wang, Dao Wu DW

Publication Date: 2021-01

Variant appearance in text: KCNQ1: E146K

PubMed Link: 33091602

Variant Present in the following documents:

• NIHMS1704401-supplement-supplementary_Appendix_3.pdf

View BVdb publication page

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A computational model of induced pluripotent stem-cell derived cardiomyocytes for high throughput risk stratification of KCNQ1 genetic variants.

Plos Computational Biology

Kernik, Divya C DC; Yang, Pei-Chi PC; Kurokawa, Junko J; Wu, Joseph C JC; Clancy, Colleen E CE

Publication Date: 2020-08

Variant appearance in text: KCNQ1: E146K

PubMed Link: 32797034

Variant Present in the following documents:

• Main text
• pcbi.1008109.pdf

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: KCNQ1: E146K

PubMed Link: 32431610

Variant Present in the following documents:

• Main text
• Table_1.xlsx, sheet 1
• fphar-11-00550.pdf

View BVdb publication page

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Retrospective Genetic Analysis of 200 Cases of Sudden Infant Death Syndrome and Its Relationship with Long QT Syndrome in Korea.

Journal Of Korean Medical Science

Son, Min-Jeong MJ; Kim, Min-Kyoung MK; Yang, Kyung-Moo KM; Choi, Byung-Ha BH; Lee, Bong Woo BW; Yoo, Seong Ho SH

Publication Date: 2018-08-06

Variant appearance in text: KCNQ1: E146K

PubMed Link: 30079003

Variant Present in the following documents:

• Main text

View BVdb publication page

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Long QT molecular autopsy in sudden unexplained death in the young (1-40 years old): Lessons learnt from an eight year experience in New Zealand.

Plos One

Marcondes, Luciana L; Crawford, Jackie J; Earle, Nikki N; Smith, Warren W; Hayes, Ian I; Morrow, Paul P; Donoghue, Tom T; Graham, Amanda A; Love, Donald D; Skinner, Jonathan R JR; ,

Publication Date: 2018

Variant appearance in text: KCNQ1: 436G>A; Glu146Lys

PubMed Link: 29672598

Variant Present in the following documents:

• Main text
• pone.0196078.pdf

View BVdb publication page

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Mutational and putative neoantigen load predict clinical benefit of adoptive T cell therapy in melanoma.

Nature Communications

Lauss, Martin M; Donia, Marco M; Harbst, Katja K; Andersen, Rikke R; Mitra, Shamik S; Rosengren, Frida F; Salim, Maryem M; Vallon-Christersson, Johan J; Törngren, Therese T; Kvist, Anders A; Ringnér, Markus M; Svane, Inge Marie IM; Jönsson, Göran G

Publication Date: 2017-11-23

Variant appearance in text: KCNQ1: 436G>A; E146K

PubMed Link: 29170503

Variant Present in the following documents:

• 41467_2017_1460_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Sudden infant death syndrome due to long QT syndrome: a brief review of the genetic substrate and prevalence.

Journal Of Biological Research (Thessalonike, Greece)

Ioakeimidis, Nikolaos S NS; Papamitsou, Theodora T; Meditskou, Soultana S; Iakovidou-Kritsi, Zafiroula Z

Publication Date: 2017-12

Variant appearance in text: KCNQ1: E146K

PubMed Link: 28316956

Variant Present in the following documents:

• Main text
• 40709_2017_Article_63.pdf

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Syncope and cardiac arrest during strenuous exercise associated with a novel mutation in LQTS1.

Clinical Case Reports

Sandhu, Amneet A; Krantz, Mori J MJ; Taylor, Matthew M; Aleong, Ryan G RG; Stichman, Jennifer J; Schuller, Joseph L JL

Publication Date: 2015-12

Variant appearance in text: KCNQ1: E146K

PubMed Link: 26734131

Variant Present in the following documents:

• Main text
• CCR3-3-0971.pdf

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Long QT molecular autopsy in sudden infant death syndrome.

Archives Of Disease In Childhood

Glengarry, Joanna Moira JM; Crawford, Jackie J; Morrow, Paul Lowell PL; Stables, Simon Robert SR; Love, Donald Roy DR; Skinner, Jonathan Robert JR

Publication Date: 2014-07

Variant appearance in text: KCNQ1: 436G>A

PubMed Link: 24596401

Variant Present in the following documents:

• Main text

View BVdb publication page

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Gating-related molecular motions in the extracellular domain of the IKs channel: implications for IKs channelopathy.

The Journal Of Membrane Biology

Wang, Yu Hong YH; Jiang, Min M; Xu, Xu Lin XL; Hsu, Kai-Ling KL; Zhang, Mei M; Tseng, Gea-Ny GN

Publication Date: 2011-02

Variant appearance in text: LQT1: E146K

PubMed Link: 21152909

Variant Present in the following documents:

• Main text

View BVdb publication page

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