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: 1697C>A; Ser566Tyr

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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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: KCNQ1: 1697C>A

PubMed Link: 35647048

Variant Present in the following documents:

• Main text
• fcvm-09-889519.pdf

View BVdb publication page

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PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.

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

Guimier, Anne A; Achleitner, Melanie T MT; Moreau de Bellaing, Anne A; Edwards, Matthew M; de Pontual, Loïc L; Mittal, Kirti K; Dunn, Kyla E KE; Grove, Megan E ME; Tysoe, Carolyn J CJ; Dimartino, Clémantine C; Cameron, Jessie J; Kanthi, Anil A; Shukla, Anju A; van den Broek, Florence F; Chatterjee, Diptendu D; Alston, Charlotte L CL; Knowles, Charlotte V CV; Brett, Laura L; Till, Jan A JA; Homfray, Tessa T; French, Paul P; Spentzou, Georgia G; Elserafy, Noha A NA; Lichkus, Kate S KS; Sankaran, Bindu P BP; Kennedy, Hannah L HL; George, Peter M PM; Kidd, Alexa A; Wortmann, Saskia B SB; Fisk, Dianna G DG; Koopmann, Tamara T TT; Rafiq, Muhammad A MA; Merker, Jason D JD; Parikh, Sumith S; Ahimaz, Priyanka P; Weintraub, Robert G RG; Ma, Alan S AS; Turner, Christian C; Ellaway, Carolyn J CJ; Phillips, Liza K LK; Thorburn, David R DR; Chung, Wendy K WK; Kana, Sajel L SL; Faye-Petersen, Ona M OM; Thompson, Michelle L ML; Janin, Alexandre A; McLeod, Karen K; McGowan, Ruth R; McFarland, Robert R; Girisha, Katta M KM; Morris-Rosendahl, Deborah J DJ; Hurst, Anna C E ACE; Turner, Claire L S CLS; Hamilton, Robert M RM; Taylor, Robert W RW; Bajolle, Fanny F; Gordon, Christopher T CT; Amiel, Jeanne J; Mayr, Johannes A JA; Doudney, Kit K

Publication Date: 2021-12

Variant appearance in text: KCNQ1: 1697C>A; Ser566Tyr

PubMed Link: 34400813

Variant Present in the following documents:

• 41436_2021_1296_MOESM1_ESM.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: S566Y

PubMed Link: 32421437

Variant Present in the following documents:

• Main text

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: 1697C>A; Ser566Tyr

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: LQT1: S566Y

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: KCNQ1: S566Y

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

View BVdb publication page

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