Publications:

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Clonal diversification and histogenesis of malignant germ cell tumours.

Nature Communications

Oliver, Thomas R W TRW; Chappell, Lia L; Sanghvi, Rashesh R; Deighton, Lauren L; Ansari-Pour, Naser N; Dentro, Stefan C SC; Young, Matthew D MD; Coorens, Tim H H THH; Jung, Hyunchul H; Butler, Tim T; Neville, Matthew D C MDC; Leongamornlert, Daniel D; Sanders, Mathijs A MA; Hooks, Yvette Y; Cagan, Alex A; Mitchell, Thomas J TJ; Cortes-Ciriano, Isidro I; Warren, Anne Y AY; Wedge, David C DC; Heer, Rakesh R; Coleman, Nicholas N; Murray, Matthew J MJ; Campbell, Peter J PJ; Rahbari, Raheleh R; Behjati, Sam S

Publication Date: 2022-08-11

Variant appearance in text: SCN5A: 1805C>A; Ser602Ter

PubMed Link: 35953478

Variant Present in the following documents:

• 41467_2022_31375_MOESM4_ESM.xlsx, sheet 8

View BVdb publication page

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Rare Coding Variants Associated With Electrocardiographic Intervals Identify Monogenic Arrhythmia Susceptibility Genes: A Multi-Ancestry Analysis.

Circulation. Genomic And Precision Medicine

Choi, Seung Hoan SH; Jurgens, Sean J SJ; Haggerty, Christopher M CM; Hall, Amelia W AW; Halford, Jennifer L JL; Morrill, Valerie N VN; Weng, Lu-Chen LC; Lagerman, Braxton B; Mirshahi, Tooraj T; Pettinger, Mary M; Guo, Xiuqing X; Lin, Henry J HJ; Alonso, Alvaro A; Soliman, Elsayed Z EZ; Kornej, Jelena J; Lin, Honghuang H; Moscati, Arden A; Nadkarni, Girish N GN; Brody, Jennifer A JA; Wiggins, Kerri L KL; Cade, Brian E BE; Lee, Jiwon J; Austin-Tse, Christina C; Blackwell, Tom T; Chaffin, Mark D MD; Lee, Christina J-Y CJ; Rehm, Heidi L HL; Roselli, Carolina C; , ; Redline, Susan S; Mitchell, Braxton D BD; Sotoodehnia, Nona N; Psaty, Bruce M BM; Heckbert, Susan R SR; Loos, Ruth J F RJF; Vasan, Ramachandran S RS; Benjamin, Emelia J EJ; Correa, Adolfo A; Boerwinkle, Eric E; Arking, Dan E DE; Rotter, Jerome I JI; Rich, Stephen S SS; Whitsel, Eric A EA; Perez, Marco M; Kooperberg, Charles C; Fornwalt, Brandon K BK; Lunetta, Kathryn L KL; Ellinor, Patrick T PT; Lubitz, Steven A SA; ,

Publication Date: 2021-08

Variant appearance in text: SCN5A: 1805C>A

PubMed Link: 34319147

Variant Present in the following documents:

• hcg-14-e003300-s001.pdf

View BVdb publication page

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Recurrent PTPRT/JAK2 mutations in lung adenocarcinoma among African Americans.

Nature Communications

Mitchell, Khadijah A KA; Nichols, Noah N; Tang, Wei W; Walling, Jennifer J; Stevenson, Holly H; Pineda, Marbin M; Stefanescu, Roxana R; Edelman, Daniel C DC; Girvin, Andrew T AT; Zingone, Adriana A; Sinha, Sanju S; Bowman, Elise E; Rossi, Emily L EL; Arauz, Rony F RF; Jack Zhu, Yuelin Y; Lack, Justin J; Weingartner, Elizabeth E; Waterfall, Joshua J JJ; Pine, Sharon R SR; Simmons, John J; Meltzer, Paul P; Ryan, Bríd M BM

Publication Date: 2019-12-16

Variant appearance in text: SCN5A: S602*

PubMed Link: 31844068

Variant Present in the following documents:

• 41467_2019_13732_MOESM8_ESM.xlsx, sheet 1
• 41467_2019_13732_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Multi-region exome sequencing reveals genomic evolution from preneoplasia to lung adenocarcinoma.

Nature Communications

Hu, Xin X; Fujimoto, Junya J; Ying, Lisha L; Fukuoka, Junya J; Ashizawa, Kazuto K; Sun, Wenyong W; Reuben, Alexandre A; Chow, Chi-Wan CW; McGranahan, Nicholas N; Chen, Runzhe R; Hu, Jinlin J; Godoy, Myrna C MC; Tabata, Kazuhiro K; Kuroda, Kishio K; Shi, Lei L; Li, Jun J; Behrens, Carmen C; Parra, Edwin Roger ER; Little, Latasha D LD; Gumbs, Curtis C; Mao, Xizeng X; Song, Xingzhi X; Tippen, Samantha S; Thornton, Rebecca L RL; Kadara, Humam H; Scheet, Paul P; Roarty, Emily E; Ostrin, Edwin Justin EJ; Wang, Xu X; Carter, Brett W BW; Antonoff, Mara B MB; Zhang, Jianhua J; Vaporciyan, Ara A AA; Pass, Harvey H; Swisher, Stephen G SG; Heymach, John V JV; Lee, J Jack JJ; Wistuba, Ignacio I II; Hong, Waun Ki WK; Futreal, P Andrew PA; Su, Dan D; Zhang, Jianjun J

Publication Date: 2019-07-05

Variant appearance in text: SCN5A: S602X

PubMed Link: 31278276

Variant Present in the following documents:

• 41467_2019_10877_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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The genomic landscape of cutaneous SCC reveals drivers and a novel azathioprine associated mutational signature.

Nature Communications

Inman, Gareth J GJ; Wang, Jun J; Nagano, Ai A; Alexandrov, Ludmil B LB; Purdie, Karin J KJ; Taylor, Richard G RG; Sherwood, Victoria V; Thomson, Jason J; Hogan, Sarah S; Spender, Lindsay C LC; South, Andrew P AP; Stratton, Michael M; Chelala, Claude C; Harwood, Catherine A CA; Proby, Charlotte M CM; Leigh, Irene M IM

Publication Date: 2018-09-10

Variant appearance in text: SCN5A: 1805C>A; S602*

PubMed Link: 30202019

Variant Present in the following documents:

• 41467_2018_6027_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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NOTCH1 mutations occur early during cutaneous squamous cell carcinogenesis.

The Journal Of Investigative Dermatology

South, Andrew P AP; Purdie, Karin J KJ; Watt, Stephen A SA; Haldenby, Sam S; den Breems, Nicoline N; Dimon, Michelle M; Arron, Sarah T ST; Kluk, Michael J MJ; Aster, Jon C JC; McHugh, Angela A; Xue, Dylan J DJ; Dayal, Jasbani Hs JH; Robinson, Kim S KS; Rizvi, Sm Hasan SH; Proby, Charlotte M CM; Harwood, Catherine A CA; Leigh, Irene M IM

Publication Date: 2014-10

Variant appearance in text: SCN5A: S602*

PubMed Link: 24662767

Variant Present in the following documents:

• NIHMS57574-supplement-data_tables.xlsx, sheet 2

View BVdb publication page

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