Publications:

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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: SI: 1384C>T; P462S

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

View BVdb publication page

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Epigenomic and genomic analysis of transcriptome modulation in skin cutaneous melanoma.

Aging

Chen, Wuzhen W; Cheng, Pu P; Jiang, Jingxin J; Ren, Yunqing Y; Wu, Dang D; Xue, Dan D

Publication Date: 2020-07-07

Variant appearance in text: SI: 1384C>T

PubMed Link: 32639949

Variant Present in the following documents:

• aging-12-103115-s013..xlsx, sheet 1

View BVdb publication page

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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: SI: 1384C>T; P462S

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

View BVdb publication page

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Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation.

Plos Genetics

Grampa, Valentina V; Delous, Marion M; Zaidan, Mohamad M; Odye, Gweltas G; Thomas, Sophie S; Elkhartoufi, Nadia N; Filhol, Emilie E; Niel, Olivier O; Silbermann, Flora F; Lebreton, Corinne C; Collardeau-Frachon, Sophie S; Rouvet, Isabelle I; Alessandri, Jean-Luc JL; Devisme, Louise L; Dieux-Coeslier, Anne A; Cordier, Marie-Pierre MP; Capri, Yline Y; Khung-Savatovsky, Suonavy S; Sigaudy, Sabine S; Salomon, Rémi R; Antignac, Corinne C; Gubler, Marie-Claire MC; Benmerah, Alexandre A; Terzi, Fabiola F; Attié-Bitach, Tania T; Jeanpierre, Cécile C; Saunier, Sophie S

Publication Date: 2016-03

Variant appearance in text: SI: 1384C>T

PubMed Link: 26967905

Variant Present in the following documents:

• Main text
• pgen.1005894.pdf

View BVdb publication page

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Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics

Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y

Publication Date: 2015-12

Variant appearance in text: SI: 1384C>T; P462S

PubMed Link: 26502337

Variant Present in the following documents:

• NIHMS65345-supplement-Supplementary_table_1.xlsx, sheet 1
• NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2

View BVdb publication page

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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: SI: P462S

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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