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: 574C>T; Arg192Cys

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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Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study.

Frontiers In Genetics

Huang, Yanlin Y; Liu, Chang C; Ding, Hongke H; Wang, Yunan Y; Yu, Lihua L; Guo, Fangfang F; Li, Fake F; Shi, Xiaomei X; Zhang, Yan Y; Yin, Aihua A

Publication Date: 2023

Variant appearance in text: KCNQ1: 574C>T; Arg192Cys

PubMed Link: 36923788

Variant Present in the following documents:

• Table3.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: 574C>T; Arg192Cys

PubMed Link: 36865150

Variant Present in the following documents:

• media-2.xlsx, sheet 9

View BVdb publication page

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Secondary resistance to anti-EGFR therapy by transcriptional reprogramming in patient-derived colorectal cancer models.

Genome Medicine

Vangala, Deepak D; Ladigan, Swetlana S; Liffers, Sven T ST; Noseir, Soha S; Maghnouj, Abdelouahid A; Götze, Tina-Maria TM; Verdoodt, Berlinda B; Klein-Scory, Susanne S; Godfrey, Laura L; Zowada, Martina K MK; Huerta, Mario M; Edelstein, Daniel L DL; de Villarreal, Jaime Martinez JM; Marqués, Miriam M; Kumbrink, Jörg J; Jung, Andreas A; Schiergens, Tobias T; Werner, Jens J; Heinemann, Volker V; Stintzing, Sebastian S; Lindoerfer, Doris D; Mansmann, Ulrich U; Pohl, Michael M; Teschendorf, Christian C; Bernhardt, Christiane C; Wolters, Heiner H; Stern, Josef J; Usta, Selami S; Viebahn, Richard R; Admard, Jacob J; Casadei, Nicolas N; Fröhling, Stefan S; Ball, Claudia R CR; Siveke, Jens T JT; Glimm, Hanno H; Tannapfel, Andrea A; Schmiegel, Wolff W; Hahn, Stephan A SA

Publication Date: 2021-07-16

Variant appearance in text: KCNQ1: 574C>T; Arg192Cys; rs775059928

PubMed Link: 34271981

Variant Present in the following documents:

• 13073_2021_926_MOESM4_ESM.xlsx, sheet 3

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: 574C>T; Arg192Cys; rs775059928

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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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: R192C

PubMed Link: 32797034

Variant Present in the following documents:

• Main text
• pcbi.1008109.pdf

View BVdb publication page

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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: KCNQ1: 574C>T; Arg192Cys; rs775059928

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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Molecular investigation by whole exome sequencing revealed a high proportion of pathogenic variants among Thai victims of sudden unexpected death syndrome.

Plos One

Suktitipat, Bhoom B; Sathirareuangchai, Sakda S; Roothumnong, Ekkapong E; Thongnoppakhun, Wanna W; Wangkiratikant, Purin P; Vorasan, Nutchavadee N; Krittayaphong, Rungroj R; Pithukpakorn, Manop M; Boonyapisit, Warangkna W

Publication Date: 2017

Variant appearance in text: KCNQ1: Arg192Cys

PubMed Link: 28704380

Variant Present in the following documents:

• Main text
• pone.0180056.pdf

View BVdb publication page

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Novel Kv7.1-phosphatidylinositol 4,5-bisphosphate interaction sites uncovered by charge neutralization scanning.

The Journal Of Biological Chemistry

Eckey, Karina K; Wrobel, Eva E; Strutz-Seebohm, Nathalie N; Pott, Lutz L; Schmitt, Nicole N; Seebohm, Guiscard G

Publication Date: 2014-08-15

Variant appearance in text: KCNQ1: R192C

PubMed Link: 24947509

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genotype-phenotype analysis of three Chinese families with Jervell and Lange-Nielsen syndrome.

Journal Of Cardiovascular Disease Research

Gao, Yuanfeng Y; Li, Cuilan C; Liu, Wenling W; Wu, Robby R; Qiu, Xiaoliang X; Liang, Ruijuan R; Li, Lei L; Zhang, Li L; Hu, Dayi D

Publication Date: 2012-04

Variant appearance in text: KCNQ1: 574C>T

PubMed Link: 22629021

Variant Present in the following documents:

• Main text
• JCDR-3-67.pdf

View BVdb publication page

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