Publications:

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Clinical Spectrum of SCN5A Channelopathy in Children with Primary Electrical Disease and Structurally Normal Hearts.

Genes

Villarreal-Molina, Teresa T; García-Ordóñez, Gabriela Paola GP; Reyes-Quintero, Álvaro E ÁE; Domínguez-Pérez, Mayra M; Jacobo-Albavera, Leonor L; Nava, Santiago S; Carnevale, Alessandra A; Medeiros-Domingo, Argelia A; Iturralde, Pedro P

Publication Date: 2021-12-22

Variant appearance in text: rs199473282

PubMed Link: 35052356

Variant Present in the following documents:

• Main text
• genes-13-00016.pdf

View BVdb publication page

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Clinical Spectrum of SCN5A Channelopathy in Children with Primary Electrical Disease and Structurally Normal Hearts.

Genes

Villarreal-Molina, Teresa T; García-Ordóñez, Gabriela Paola GP; Reyes-Quintero, Álvaro E ÁE; Domínguez-Pérez, Mayra M; Jacobo-Albavera, Leonor L; Nava, Santiago S; Carnevale, Alessandra A; Medeiros-Domingo, Argelia A; Iturralde, Pedro P

Publication Date: 2021-12-22

Variant appearance in text: rs199473282

PubMed Link: 35052356

Variant Present in the following documents:

• Main text
• genes-13-00016.pdf

View BVdb publication page

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Genetic variants associated with inherited cardiovascular disorders among 13,131 asymptomatic older adults of European descent.

Npj Genomic Medicine

Lacaze, Paul P; Sebra, Robert R; Riaz, Moeen M; Ingles, Jodie J; Tiller, Jane J; Thompson, Bryony A BA; James, Paul A PA; Fatkin, Diane D; Semsarian, Christopher C; Reid, Christopher M CM; Tonkin, Andrew M AM; Winship, Ingrid I; Schadt, Eric E; McNeil, John J JJ

Publication Date: 2021-06-16

Variant appearance in text: rs199473282

PubMed Link: 34135346

Variant Present in the following documents:

• Main text
• 41525_2021_211_MOESM1_ESM.xlsx, sheet 1
• 41525_2021_Article_211.pdf

View BVdb publication page

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The genomic landscapes of individual melanocytes from human skin.

Nature

Tang, Jessica J; Fewings, Eleanor E; Chang, Darwin D; Zeng, Hanlin H; Liu, Shanshan S; Jorapur, Aparna A; Belote, Rachel L RL; McNeal, Andrew S AS; Tan, Tuyet M TM; Yeh, Iwei I; Arron, Sarah T ST; Judson-Torres, Robert L RL; Bastian, Boris C BC; Shain, A Hunter AH

Publication Date: 2020-10

Variant appearance in text: rs199473282

PubMed Link: 33029006

Variant Present in the following documents:

• NIHMS1626314-supplement-1626314_SuppTable3.xlsx, sheet 1

View BVdb publication page

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Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance.

Netherlands Heart Journal : Monthly Journal Of The Netherlands Society Of Cardiology And The Netherlands Heart Foundation

van Lint, F H M FHM; Mook, O R F ORF; Alders, M M; Bikker, H H; Lekanne Dit Deprez, R H RH; Christiaans, I I

Publication Date: 2019-06

Variant appearance in text: rs199473282

PubMed Link: 30847666

Variant Present in the following documents:

• 12471_2019_1250_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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The landscape of somatic mutation in sporadic Chinese colorectal cancer.

Oncotarget

Liu, Zhe Z; Yang, Chao C; Li, Xiangchun X; Luo, Wen W; Roy, Bhaskar B; Xiong, Teng T; Zhang, Xiuqing X; Yang, Huanming H; Wang, Jian J; Ye, Zhenhao Z; Chen, Yang Y; Song, Jinghe J; Ma, Shuai S; Zhou, Yong Y; Yang, Min M; Fang, Xiaodong X; Du, Jie J

Publication Date: 2018-06-08

Variant appearance in text: rs199473282

PubMed Link: 29937994

Variant Present in the following documents:

• oncotarget-09-27412-s004.xlsx, sheet 1

View BVdb publication page

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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: rs199473282

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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