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: 583C>T; Arg195Trp

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

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: 583C>T; Arg195Trp

PubMed Link: 36865150

Variant Present in the following documents:

• media-2.xlsx, sheet 9

View BVdb publication page

---

Molecular Approach of Hereditary Arrhythmias, Long QT Syndrome, and Arrhythmogenic Right Ventricular Cardiomyopathy.

Anatolian Journal Of Cardiology

Saat, Hanife H; Şahin, İbrahim İ; Erdem, Haktan Bağış HB; Özgür, Senem S; Terlemez Tokgöz, Semiha S; Bahsi, Taha T

Publication Date: 2022-06

Variant appearance in text: KCNQ1: 583C>T

PubMed Link: 35703482

Variant Present in the following documents:

• ajc-26-6-460.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: R195W

PubMed Link: 35442947

Variant Present in the following documents:

• Main text
• pcbi.1010038.pdf

View BVdb publication page

---

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: 583C>T; Arg195Trp; rs150172393

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

Disease-linked supertrafficking of a potassium channel.

The Journal Of Biological Chemistry

Huang, Hui H; Chamness, Laura M LM; Vanoye, Carlos G CG; Kuenze, Georg G; Meiler, Jens J; George, Alfred L AL; Schlebach, Jonathan Patrick JP; Sanders, Charles R CR

Publication Date: 2021

Variant appearance in text: KCNQ1: R195W

PubMed Link: 33600800

Variant Present in the following documents:

• mmc1.pdf

View BVdb publication page

---

Atrial fibrillation-a complex polygenetic disease.

European Journal Of Human Genetics : Ejhg

Andersen, Julie H JH; Andreasen, Laura L; Olesen, Morten S MS

Publication Date: 2021-07

Variant appearance in text: KCNQ1: 583C>T; Arg195Trp

PubMed Link: 33279945

Variant Present in the following documents:

• 41431_2020_784_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

---

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: 583C>T; Arg195Trp; rs150172393

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

---

An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: KCNQ1: 583C>T

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

---

Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: rs150172393

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

---

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: 583C>T; Arg195Trp

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

---

Cardiac Delayed Rectifier Potassium Channels in Health and Disease.

Cardiac Electrophysiology Clinics

Chen, Lei L; Sampson, Kevin J KJ; Kass, Robert S RS

Publication Date: 2016-06

Variant appearance in text: KCNQ1: R195W

PubMed Link: 27261823

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: R195W

PubMed Link: 24947509

Variant Present in the following documents:

• Main text

View BVdb publication page

---