Publications:

---

Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: SCN5A: R1023C; rs745435760

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9

View BVdb publication page

---

Expanding the genotypes and phenotypes for 19 rare diseases by exome sequencing performed in pediatric intensive care unit.

Human Mutation

Liu, Juan J; Zheng, Yu Y; Huang, Jiaotian J; Zhu, Desheng D; Zang, Ping P; Luo, Zhenqing Z; Yang, Yongjia Y; Peng, Yu Y; Xiao, Zhenghui Z; Zhu, Yimin Y; Lu, Xiulan X

Publication Date: 2021-11

Variant appearance in text: SCN5A: 3067C>T; Arg1023Cys

PubMed Link: 34298581

Variant Present in the following documents:

• Main text
• HUMU-42-1443.pdf

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: SCN5A: 3067C>T; Arg1023Cys; rs745435760

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

---

Retrospective Genetic Analysis of 200 Cases of Sudden Infant Death Syndrome and Its Relationship with Long QT Syndrome in Korea.

Journal Of Korean Medical Science

Son, Min-Jeong MJ; Kim, Min-Kyoung MK; Yang, Kyung-Moo KM; Choi, Byung-Ha BH; Lee, Bong Woo BW; Yoo, Seong Ho SH

Publication Date: 2018-08-06

Variant appearance in text: SCN5A: R1023C

PubMed Link: 30079003

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Dysfunctional Nav1.5 channels due to SCN5A mutations.

Experimental Biology And Medicine (Maywood, N.J.)

Han, Dan D; Tan, Hui H; Sun, Chaofeng C; Li, Guoliang G

Publication Date: 2018-06

Variant appearance in text: SCN5A: R1023C

PubMed Link: 29806494

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Genetic Etiology for Alcohol-Induced Cardiac Toxicity.

Journal Of The American College Of Cardiology

Ware, James S JS; Amor-Salamanca, Almudena A; Tayal, Upasana U; Govind, Risha R; Serrano, Isabel I; Salazar-Mendiguchía, Joel J; García-Pinilla, Jose Manuel JM; Pascual-Figal, Domingo A DA; Nuñez, Julio J; Guzzo-Merello, Gonzalo G; Gonzalez-Vioque, Emiliano E; Bardaji, Alfredo A; Manito, Nicolas N; López-Garrido, Miguel A MA; Padron-Barthe, Laura L; Edwards, Elizabeth E; Whiffin, Nicola N; Walsh, Roddy R; Buchan, Rachel J RJ; Midwinter, William W; Wilk, Alicja A; Prasad, Sanjay S; Pantazis, Antonis A; Baski, John J; O'Regan, Declan P DP; Alonso-Pulpon, Luis L; Cook, Stuart A SA; Lara-Pezzi, Enrique E; Barton, Paul J PJ; Garcia-Pavia, Pablo P

Publication Date: 2018-05-22

Variant appearance in text: SCN5A: 3067C>T; Arg1023Cys

PubMed Link: 29773157

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

View BVdb publication page

---

H558R, a common SCN5A polymorphism, modifies the clinical phenotype of Brugada syndrome by modulating DNA methylation of SCN5A promoters.

Journal Of Biomedical Science

Matsumura, Hiroya H; Nakano, Yukiko Y; Ochi, Hidenori H; Onohara, Yuko Y; Sairaku, Akinori A; Tokuyama, Takehito T; Tomomori, Shunsuke S; Motoda, Chikaaki C; Amioka, Michitaka M; Hironobe, Naoya N; Toshishige, Masaaki M; Takahashi, Shinya S; Imai, Katsuhiko K; Sueda, Taijiro T; Chayama, Kazuaki K; Kihara, Yasuki Y

Publication Date: 2017-12-04

Variant appearance in text: SCN5A: R1023C

PubMed Link: 29202755

Variant Present in the following documents:

• Main text
• 12929_2017_Article_397.pdf

View BVdb publication page

---