Publications:

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: rs41315495

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: SCN5A: 4845C>T; Phe1615=

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: SCN5A: F1615F; rs41315495

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

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Sequencing of SCN5A identifies rare and common variants associated with cardiac conduction: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium.

Circulation. Cardiovascular Genetics

Magnani, Jared W JW; Brody, Jennifer A JA; Prins, Bram P BP; Arking, Dan E DE; Lin, Honghuang H; Yin, Xiaoyan X; Liu, Ching-Ti CT; Morrison, Alanna C AC; Zhang, Feng F; Spector, Tim D TD; Alonso, Alvaro A; Bis, Joshua C JC; Heckbert, Susan R SR; Lumley, Thomas T; Sitlani, Colleen M CM; Cupples, L Adrienne LA; Lubitz, Steven A SA; Soliman, Elsayed Z EZ; Pulit, Sara L SL; Newton-Cheh, Christopher C; O'Donnell, Christopher J CJ; Ellinor, Patrick T PT; Benjamin, Emelia J EJ; Muzny, Donna M DM; Gibbs, Richard A RA; Santibanez, Jireh J; Taylor, Herman A HA; Rotter, Jerome I JI; Lange, Leslie A LA; Psaty, Bruce M BM; Jackson, Rebecca R; Rich, Stephen S SS; Boerwinkle, Eric E; Jamshidi, Yalda Y; Sotoodehnia, Nona N; , ; , ; ,

Publication Date: 2014-06

Variant appearance in text: SCN5A: F1615F; rs41315495

PubMed Link: 24951663

Variant Present in the following documents:

• Main text

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Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing.

Bmc Cardiovascular Disorders

Stattin, Eva-Lena EL; Boström, Ida Maria IM; Winbo, Annika A; Cederquist, Kristina K; Jonasson, Jenni J; Jonsson, Björn-Anders BA; Diamant, Ulla-Britt UB; Jensen, Steen M SM; Rydberg, Annika A; Norberg, Anna A

Publication Date: 2012-10-25

Variant appearance in text: rs41315495

PubMed Link: 23098067

Variant Present in the following documents:

• 1471-2261-12-95-S2.pdf

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