Publications:

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Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: rs3778873

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

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Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal

Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL

Publication Date: 2019-04

Variant appearance in text: rs3778873

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

View BVdb publication page

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Modeling susceptibility to drug-induced long QT with a panel of subject-specific induced pluripotent stem cells.

Elife

Stillitano, Francesca F; Hansen, Jens J; Kong, Chi-Wing CW; Karakikes, Ioannis I; Funck-Brentano, Christian C; Geng, Lin L; Scott, Stuart S; Reynier, Stephan S; Wu, Ma M; Valogne, Yannick Y; Desseaux, Carole C; Salem, Joe-Elie JE; Jeziorowska, Dorota D; Zahr, Noël N; Li, Ronald R; Iyengar, Ravi R; Hajjar, Roger J RJ; Hulot, Jean-Sébastien JS

Publication Date: 2017-01-30

Variant appearance in text: rs3778873

PubMed Link: 28134617

Variant Present in the following documents:

• Main text
• elife-19406.pdf

View BVdb publication page

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Arrhythmia risk in long QT syndrome: beyond the disease-causative mutation.

Circulation. Cardiovascular Genetics

Giudicessi, John R JR; Ackerman, Michael J MJ

Publication Date: 2013-08

Variant appearance in text: rs3778873

PubMed Link: 23963159

Variant Present in the following documents:

• Main text

View BVdb publication page

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Identification of a KCNQ1 polymorphism acting as a protective modifier against arrhythmic risk in long-QT syndrome.

Circulation. Cardiovascular Genetics

Duchatelet, Sabine S; Crotti, Lia L; Peat, Rachel A RA; Denjoy, Isabelle I; Itoh, Hideki H; Berthet, Myriam M; Ohno, Seiko S; Fressart, Véronique V; Monti, Maria Cristina MC; Crocamo, Cristina C; Pedrazzini, Matteo M; Dagradi, Federica F; Vicentini, Alessandro A; Klug, Didier D; Brink, Paul A PA; Goosen, Althea A; Swan, Heikki H; Toivonen, Lauri L; Lahtinen, Annukka M AM; Kontula, Kimmo K; Shimizu, Wataru W; Horie, Minoru M; George, Alfred L AL; Trégouët, David-Alexandre DA; Guicheney, Pascale P; Schwartz, Peter J PJ

Publication Date: 2013-08

Variant appearance in text: rs3778873

PubMed Link: 23856471

Variant Present in the following documents:

• Main text

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Common variants at ten loci modulate the QT interval duration in the QTSCD Study.

Nature Genetics

Pfeufer, Arne A; Sanna, Serena S; Arking, Dan E DE; Müller, Martina M; Gateva, Vesela V; Fuchsberger, Christian C; Ehret, Georg B GB; Orrú, Marco M; Pattaro, Cristian C; Köttgen, Anna A; Perz, Siegfried S; Usala, Gianluca G; Barbalic, Maja M; Li, Man M; Pütz, Benno B; Scuteri, Angelo A; Prineas, Ronald J RJ; Sinner, Moritz F MF; Gieger, Christian C; Najjar, Samer S SS; Kao, W H Linda WH; Mühleisen, Thomas W TW; Dei, Mariano M; Happle, Christine C; Möhlenkamp, Stefan S; Crisponi, Laura L; Erbel, Raimund R; Jöckel, Karl-Heinz KH; Naitza, Silvia S; Steinbeck, Gerhard G; Marroni, Fabio F; Hicks, Andrew A AA; Lakatta, Edward E; Müller-Myhsok, Bertram B; Pramstaller, Peter P PP; Wichmann, H-Erich HE; Schlessinger, David D; Boerwinkle, Eric E; Meitinger, Thomas T; Uda, Manuela M; Coresh, Josef J; Kääb, Stefan S; Abecasis, Gonçalo R GR; Chakravarti, Aravinda A

Publication Date: 2009-04

Variant appearance in text: rs3778873

PubMed Link: 19305409

Variant Present in the following documents:

• Main text

View BVdb publication page

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