Publications:

---

Clinical and functional characterisation of a recurrent KCNQ1 variant in the Belgian population.

Orphanet Journal Of Rare Diseases

Sieliwonczyk, Ewa E; Alaerts, Maaike M; Simons, Eline E; Snyders, Dirk D; Nijak, Aleksandra A; Vandendriessche, Bert B; Schepers, Dorien D; Akdeniz, Dogan D; Van Craenenbroeck, Emeline E; Knaepen, Katleen K; Rabaut, Laura L; Heidbuchel, Hein H; Van Laer, Lut L; Saenen, Johan J; Labro, Alain J AJ; Loeys, Bart B

Publication Date: 2023-01-31

Variant appearance in text: KCNQ1: L353L

PubMed Link: 36721196

Variant Present in the following documents:

• 13023_2023_Article_2618.pdf

View BVdb publication page

---

KCNQ1 and Long QT Syndrome in 1/45 Amish: The Road From Identification to Implementation of Culturally Appropriate Precision Medicine.

Circulation. Genomic And Precision Medicine

Streeten, Elizabeth A EA; See, Vincent Y VY; Jeng, Linda B J LBJ; Maloney, Kristin A KA; Lynch, Megan M; Glazer, Andrew M AM; Yang, Tao T; Roden, Dan D; Pollin, Toni I TI; Daue, Melanie M; Ryan, Kathleen A KA; Van Hout, Cristopher C; Gosalia, Nehal N; Gonzaga-Jauregui, Claudia C; Economides, Aris A; Perry, James A JA; O'Connell, Jeffrey J; Beitelshees, Amber A; Palmer, Kathleen K; Mitchell, Braxton D BD; Shuldiner, Alan R AR; ,

Publication Date: 2020-12

Variant appearance in text: KCNQ1: L353L

PubMed Link: 33141630

Variant Present in the following documents:

• hcg-13-e003133.pdf
• hcg-13-e003133-s001.pdf
• hcg-13-e003133-s003.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: L353L

PubMed Link: 32797034

Variant Present in the following documents:

• pcbi.1008109.pdf

View BVdb publication page

---

mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: KCNQ1: L353L

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

View BVdb publication page

---

Indigenous Genomic Databases: Pragmatic Considerations and Cultural Contexts.

Frontiers In Public Health

Caron, Nadine Rena NR; Chongo, Meck M; Hudson, Maui M; Arbour, Laura L; Wasserman, Wyeth W WW; Robertson, Stephen S; Correard, Solenne S; Wilcox, Phillip P

Publication Date: 2020

Variant appearance in text: KCNQ1: L353L

PubMed Link: 32391301

Variant Present in the following documents:

• fpubh-08-00111.pdf

View BVdb publication page

---

Cardiac arrest in a mother and daughter and the identification of a novel RYR2 variant, predisposing to low penetrant catecholaminergic polymorphic ventricular tachycardia in a four-generation Canadian family.

Molecular Genetics & Genomic Medicine

Tung, Matthew M; Van Petegem, Filip F; Lauson, Samantha S; Collier, Ashley A; Hodgkinson, Kathy K; Fernandez, Bridget B; Connors, Sean S; Leather, Rick R; Sanatani, Shubhayan S; Arbour, Laura L

Publication Date: 2020-04

Variant appearance in text: KCNQ1: L353L

PubMed Link: 31994352

Variant Present in the following documents:

• MGG3-8-e1151.pdf

View BVdb publication page

---

Sex is a moderator of the association between NOS1AP sequence variants and QTc in two long QT syndrome founder populations: a pedigree-based measured genotype association analysis.

Bmc Medical Genetics

Winbo, Annika A; Stattin, Eva-Lena EL; Westin, Ida Maria IM; Norberg, Anna A; Persson, Johan J; Jensen, Steen M SM; Rydberg, Annika A

Publication Date: 2017-07-18

Variant appearance in text: KCNQ1: L353L

PubMed Link: 28720088

Variant Present in the following documents:

• 12881_2017_Article_435.pdf

View BVdb publication page

---

KCNQ1 p.L353L affects splicing and modifies the phenotype in a founder population with long QT syndrome type 1.

Journal Of Medical Genetics

Kapplinger, Jamie D JD; Erickson, Anders A; Asuri, Sirisha S; Tester, David J DJ; McIntosh, Sarah S; Kerr, Charles R CR; Morrison, Julie J; Tang, Anthony A; Sanatani, Shubhayan S; Arbour, Laura L; Ackerman, Michael J MJ

Publication Date: 2017-06

Variant appearance in text: KCNQ1: 1059G>A; L353L

PubMed Link: 28264985

Variant Present in the following documents:

• Main text
• jmedgenet-2016-104153.pdf

View BVdb publication page

---