Publications:

---

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: 707T>G; Leu236Arg

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

Evolutionary coupling analysis guides identification of mistrafficking-sensitive variants in cardiac K+ channels: Validation with hERG.

Frontiers In Pharmacology

Zhang, Yihong Y; Grimwood, Amy L AL; Hancox, Jules C JC; Harmer, Stephen C SC; Dempsey, Christopher E CE

Publication Date: 2022

Variant appearance in text: KCNQ1: L236R

PubMed Link: 36339618

Variant Present in the following documents:

• fphar-13-1010119.pdf

View BVdb publication page

---

Predicting the functional impact of KCNQ1 variants with artificial neural networks.

Plos Computational Biology

Phul, Saksham S; Kuenze, Georg G; Vanoye, Carlos G CG; Sanders, Charles R CR; George, Alfred L AL; Meiler, Jens J

Publication Date: 2022-04

Variant appearance in text: KCNQ1: L236R

PubMed Link: 35442947

Variant Present in the following documents:

• Main text
• pcbi.1010038.pdf

View BVdb publication page

---

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: L236R

PubMed Link: 32797034

Variant Present in the following documents:

• Main text
• pcbi.1008109.pdf

View BVdb publication page

---

REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports

Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D

Publication Date: 2019-09-04

Variant appearance in text: KCNQ1: 707T>G; L236R

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

High-Throughput Functional Evaluation of KCNQ1 Decrypts Variants of Unknown Significance.

Circulation. Genomic And Precision Medicine

Vanoye, Carlos G CG; Desai, Reshma R RR; Fabre, Katarina L KL; Gallagher, Shannon L SL; Potet, Franck F; DeKeyser, Jean-Marc JM; Macaya, Daniela D; Meiler, Jens J; Sanders, Charles R CR; George, Alfred L AL

Publication Date: 2018-11

Variant appearance in text: KCNQ1: L236R

PubMed Link: 30571187

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Mechanisms of KCNQ1 channel dysfunction in long QT syndrome involving voltage sensor domain mutations.

Science Advances

Huang, Hui H; Kuenze, Georg G; Smith, Jarrod A JA; Taylor, Keenan C KC; Duran, Amanda M AM; Hadziselimovic, Arina A; Meiler, Jens J; Vanoye, Carlos G CG; George, Alfred L AL; Sanders, Charles R CR

Publication Date: 2018-03

Variant appearance in text: KCNQ1: L236R

PubMed Link: 29532034

Variant Present in the following documents:

• Main text
• aar2631.pdf
• aar2631_SM.pdf

View BVdb publication page

---

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: KCNQ1: L236R

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s3.xls, sheet 1

View BVdb publication page

---

High incidence of functional ion-channel abnormalities in a consecutive Long QT cohort with novel missense genetic variants of unknown significance.

Scientific Reports

Steffensen, Annette Buur AB; Refaat, Marwan M MM; David, Jens-Peter JP; Mujezinovic, Amer A; Calloe, Kirstine K; Wojciak, Julianne J; Nussbaum, Robert L RL; Scheinman, Melvin M MM; Schmitt, Nicole N

Publication Date: 2015-06-12

Variant appearance in text: LQT1: 707T>G

PubMed Link: 26066609

Variant Present in the following documents:

• Main text
• srep10009.pdf

View BVdb publication page

---