Publications:

Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics

Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM

Publication Date: 2020-12

Variant appearance in text: KCNH2: 2954A>G; N985S

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

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Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy.

Epilepsia Open

Truty, Rebecca R; Patil, Nila N; Sankar, Raman R; Sullivan, Joseph J; Millichap, John J; Carvill, Gemma G; Entezam, Ali A; Esplin, Edward D ED; Fuller, Amy A; Hogue, Michelle M; Johnson, Britt B; Khouzam, Amirah A; Kobayashi, Yuya Y; Lewis, Rachel R; Nykamp, Keith K; Riethmaier, Darlene D; Westbrook, Jody J; Zeman, Michelle M; Nussbaum, Robert L RL; Aradhya, Swaroop S

Publication Date: 2019-09

Variant appearance in text: KCNH2: 2954A>G; Asn985Ser

PubMed Link: 31440721

Variant Present in the following documents:

• EPI4-4-397-s003.xlsx, sheet 1

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Brugada syndrome: a fatal disease with complex genetic etiologies - still a long way to go.

Forensic Sciences Research

Wu, Yeda Y; Ai, Mei M; Bardeesi, Adham Sameer A ASA; Xu, Lunwu L; Zheng, Jingjing J; Zheng, Da D; Yin, Kun K; Wu, Qiuping Q; Zhang, Liyong L; Huang, Lei L; Cheng, Jianding J

Publication Date: 2017

Variant appearance in text: KCNH2: N985S

PubMed Link: 30483629

Variant Present in the following documents:

• Main text
• tfsr-2-1333203.pdf

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The genetic component of Brugada syndrome.

Frontiers In Physiology

Nielsen, Morten W MW; Holst, Anders G AG; Olesen, Søren-Peter SP; Olesen, Morten S MS

Publication Date: 2013

Variant appearance in text: KCNH2: N985S

PubMed Link: 23874304

Variant Present in the following documents:

• Main text
• fphys-04-00179.pdf

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