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: KCNE1: 20C>T; Thr7Ile

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: KCNE1: 20C>T; Thr7Ile

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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: KCNE1: 20C>T; Thr7Ile; rs28933384

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

An International Multicenter Evaluation of Type 5 Long QT Syndrome: A Low Penetrant Primary Arrhythmic Condition.

Circulation

Roberts, Jason D JD; Asaki, S Yukiko SY; Mazzanti, Andrea A; Bos, J Martijn JM; Tuleta, Izabela I; Muir, Alison R AR; Crotti, Lia L; Krahn, Andrew D AD; Kutyifa, Valentina V; Shoemaker, M Benjamin MB; Johnsrude, Christopher L CL; Aiba, Takeshi T; Marcondes, Luciana L; Baban, Anwar A; Udupa, Sharmila S; Dechert, Brynn B; Fischbach, Peter P; Knight, Linda M LM; Vittinghoff, Eric E; Kukavica, Deni D; Stallmeyer, Birgit B; Giudicessi, John R JR; Spazzolini, Carla C; Shimamoto, Keiko K; Tadros, Rafik R; Cadrin-Tourigny, Julia J; Duff, Henry J HJ; Simpson, Christopher S CS; Roston, Thomas M TM; Wijeyeratne, Yanushi D YD; El Hajjaji, Imane I; Yousif, Maisoon D MD; Gula, Lorne J LJ; Leong-Sit, Peter P; Chavali, Nikhil N; Landstrom, Andrew P AP; Marcus, Gregory M GM; Dittmann, Sven S; Wilde, Arthur A M AAM; Behr, Elijah R ER; Tfelt-Hansen, Jacob J; Scheinman, Melvin M MM; Perez, Marco V MV; Kaski, Juan Pablo JP; Gow, Robert M RM; Drago, Fabrizio F; Aziz, Peter F PF; Abrams, Dominic J DJ; Gollob, Michael H MH; Skinner, Jonathan R JR; Shimizu, Wataru W; Kaufman, Elizabeth S ES; Roden, Dan M DM; Zareba, Wojciech W; Schwartz, Peter J PJ; Schulze-Bahr, Eric E; Etheridge, Susan P SP; Priori, Silvia G SG; Ackerman, Michael J MJ

Publication Date: 2020-02-11

Variant appearance in text: KCNE1: Thr7Ile

PubMed Link: 31941373

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Mutational and phenotypic spectra of KCNE1 deficiency in Jervell and Lange-Nielsen Syndrome and Romano-Ward Syndrome.

Human Mutation

Faridi, Rabia R; Tona, Risa R; Brofferio, Alessandra A; Hoa, Michael M; Olszewski, Rafal R; Schrauwen, Isabelle I; Assir, Muhammad Z K MZK; Bandesha, Akhtar A AA; Khan, Asma A AA; Rehman, Atteeq U AU; Brewer, Carmen C; Ahmed, Wasim W; Leal, Suzanne M SM; Riazuddin, Sheikh S; Boyden, Steven E SE; Friedman, Thomas B TB

Publication Date: 2019-02

Variant appearance in text: KCNE1: Thr7Ile

PubMed Link: 30461122

Variant Present in the following documents:

• Main text

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: rs28933384

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: KCNE1: 20C>T; Thr7Ile

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

---

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: rs28933384

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

---

An Examination of KCNE1 Mutations and Common Variants in Chronic Tinnitus.

Genes

Sand, Philipp G PG; Luettich, Alexander A; Kleinjung, Tobias T; Hajak, Goeran G; Langguth, Berthold B

Publication Date: 2010-04-28

Variant appearance in text: rs28933384

PubMed Link: 24710009

Variant Present in the following documents:

• Main text
• genes-01-00023.pdf

View BVdb publication page

---

In silico investigations on functional and haplotype tag SNPs associated with congenital long QT syndromes (LQTSs).

Genomic Medicine

Sudandiradoss, C C; Sethumadhavan, Rao R

Publication Date: 2008-12

Variant appearance in text: rs28933384

PubMed Link: 19214780

Variant Present in the following documents:

• Main text

View BVdb publication page

---