Publications:

Targeted deep sequencing analyses of long QT syndrome in a Japanese population.

Plos One

Nagata, Yuki Y; Watanabe, Ryo R; Eichhorn, Christian C; Ohno, Seiko S; Aiba, Takeshi T; Ishikawa, Taisuke T; Nakano, Yukiko Y; Aizawa, Yoshiyasu Y; Hayashi, Kenshi K; Murakoshi, Nobuyuki N; Nakajima, Tadashi T; Yagihara, Nobue N; Mishima, Hiroyuki H; Sudo, Takeaki T; Higuchi, Chihiro C; Takahashi, Atsushi A; Sekine, Akihiro A; Makiyama, Takeru T; Tanaka, Yoshihiro Y; Watanabe, Atsuyuki A; Tachibana, Motomi M; Morita, Hiroshi H; Yoshiura, Koh-Ichiro KI; Tsunoda, Tatsuhiko T; Watanabe, Hiroshi H; Kurabayashi, Masahiko M; Nogami, Akihiko A; Kihara, Yasuki Y; Horie, Minoru M; Shimizu, Wataru W; Makita, Naomasa N; Tanaka, Toshihiro T

Publication Date: 2022

Variant appearance in text: SCN5A: 1111C>G

PubMed Link: 36480497

Variant Present in the following documents:

• Main text
• pone.0277242.pdf

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GENETIC SUBGROUPS INFORM ON PATHOBIOLOGY IN ADULT AND PEDIATRIC BURKITT LYMPHOMA.

Blood

Thomas, Nicole N; Dreval, Kostiantyn K; Gerhard, Daniela S DS; Hilton, Laura K LK; Abramson, Jeremy S JS; Barta, Stefan K SK; Bartlett, Nancy L NL; Bethony, Jeffrey J; Bhatia, Kishor K; Bowen, Jay J; Bryan, Anthony C AC; Cesarman, Ethel E; Casper, Corey C; Cruz, Manuela M; Dyer, Maureen M; Farinha, Pedro P; Gastier-Foster, Julie J; Gerrie, Alina S AS; Grande, Bruno B; Greiner, Timothy C TC; Griner, Nicholas N; Gross, Thomas G TG; Harris, Nancy Lee NL; Irvin, John D JD; Jaffe, Elaine S ES; Henry, David D; Huppi, Rebecca Liddell RL; Leal, Fabio E FE; Lee, Michael M; Martin, Jean Paul JP; Martin, Marie-Reine MR; Mbulaiteye, Sam M SM; Mitsuyasu, Ronald R; Morris, Vivian V; Mullighan, Charles G CG; Mungall, Andrew J AJ; Mungall, Karen K; Mutyaba, Innocent I; Nokta, Mostafa M; Namirembe, Constance C; Noy, Ariela A; Ogwang, Martin David MD; Omoding, Abrahams A; Orem, Jackson J; Ott, German G; Petrello, Hilary H; Pittaluga, Stefania S; Phelan, James D JD; Ramos, Juan Carlos JC; Ratner, Lee L; Reynolds, Steven J SJ; Rubinstein, Paul G PG; Sissolak, Gerhard G; Slack, Graham W GW; Soudi, Shaghayegh S; Swerdlow, Steven Howard SH; Traverse-Glehen, Alexandra A; Wilson, Wyndham W; Wong, Jasper Chun Hei JCH; Yarchoan, Robert R; ZenKlusen, Jean C JC; Marra, Marco A MA; Staudt, Louis M LM; Scott, David W DW; Morin, Ryan D RD

Publication Date: 2022-10-06

Variant appearance in text: SCN5A: 1111C>G; Gln371Glu

PubMed Link: 36201743

Variant Present in the following documents:

• BLOOD_BLD-2022-016534-mmc1.xlsx, sheet 6

View BVdb publication page

The congenital long QT syndrome Type 3: An update.

Indian Pacing And Electrophysiology Journal

Pérez-Riera, Andrés Ricardo AR; Barbosa-Barros, Raimundo R; Daminello Raimundo, Rodrigo R; da Costa de Rezende Barbosa, Marianne Penachini MP; Esposito Sorpreso, Isabel Cristina IC; de Abreu, Luiz Carlos LC

Publication Date: 2018

Variant appearance in text: SCN5A: Q371E

PubMed Link: 29101013

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: SCN5A: 1111C>G; Q371E

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

View BVdb publication page