Publications:

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: VHL: 353T>C; Leu118Pro

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Application of Genomic Sequencing to Refine Patient Stratification for Adjuvant Therapy in Renal Cell Carcinoma.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Vasudev, Naveen S NS; Scelo, Ghislaine G; Glennon, Kate I KI; Wilson, Michelle M; Letourneau, Louis L; Eveleigh, Robert R; Nourbehesht, Nazanin N; Arseneault, Madeleine M; Paccard, Antoine A; Egevad, Lars L; Viksna, Juris J; Celms, Edgars E; Jackson, Sharon M SM; Abedi-Ardekani, Behnoush B; Warren, Anne Y AY; Selby, Peter J PJ; Trainor, Sebastian S; Kimuli, Michael M; Cartledge, Jon J; Soomro, Naeem N; Adeyoju, Adebanji A; Patel, Poulam M PM; Wozniak, Magdalena B MB; Holcatova, Ivana I; Brisuda, Antonin A; Janout, Vladimir V; Chanudet, Estelle E; Zaridze, David D; Moukeria, Anush A; Shangina, Oxana O; Foretova, Lenka L; Navratilova, Marie M; Mates, Dana D; Jinga, Viorel V; Bogdanovic, Ljiljana L; Kovacevic, Bozidar B; Cambon-Thomsen, Anne A; Bourque, Guillaume G; Brazma, Alvis A; Tost, Jörg J; Brennan, Paul P; Lathrop, Mark M; Riazalhosseini, Yasser Y; Banks, Rosamonde E RE

Publication Date: 2023-02-23

Variant appearance in text: VHL: 353T>C; Leu118Pro; rs5030830

PubMed Link: 36815791

Variant Present in the following documents:

• ccr-22-1936_supplementary_table_s2_suppts2.xlsx, sheet 1

View BVdb publication page

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TadA reprogramming to generate potent miniature base editors with high precision.

Nature Communications

Zhang, Shuqian S; Song, Liting L; Yuan, Bo B; Zhang, Cheng C; Cao, Jixin J; Chen, Jinlong J; Qiu, Jiayi J; Tai, Yilin Y; Chen, Jingqi J; Qiu, Zilong Z; Zhao, Xing-Ming XM; Cheng, Tian-Lin TL

Publication Date: 2023-01-26

Variant appearance in text: VHL: L118P

PubMed Link: 36702845

Variant Present in the following documents:

• Main text
• 41467_2023_Article_36004.pdf

View BVdb publication page

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Kidney tumors associated with germline mutations of FH and SDHB show a CpG island methylator phenotype (CIMP).

Plos One

Ricketts, Christopher J CJ; Killian, J Keith JK; Vocke, Cathy D CD; Wang, Yonghong Y; Merino, Maria J MJ; Meltzer, Paul S PS; Linehan, W Marston WM

Publication Date: 2022

Variant appearance in text: VHL1: 353T>C

PubMed Link: 36455002

Variant Present in the following documents:

• pone.0278108.s001.xlsx, sheet 1

View BVdb publication page

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Somatic mutation distribution across tumour cohorts provides a signal for positive selection in cancer.

Nature Communications

Boström, Martin M; Larsson, Erik E

Publication Date: 2022-11-17

Variant appearance in text: VHL: L118P

PubMed Link: 36396655

Variant Present in the following documents:

• 41467_2022_34746_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

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Are transient protein-protein interactions more dispensable?

Plos Computational Biology

Ghadie, Mohamed Ali MA; Xia, Yu Y

Publication Date: 2022-04

Variant appearance in text: VHL: 353T>C; Leu118Pro

PubMed Link: 35404956

Variant Present in the following documents:

• pcbi.1010013.s002.xlsx, sheet 4

View BVdb publication page

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Identification of Survival-Specific Genes in Clear Cell Renal Cell Carcinoma Using a Customized Next-Generation Sequencing Gene Panel.

Journal Of Personalized Medicine

Hwang, Jia J; Kim, Heeeun H; Han, Jinseon J; Lee, Jieun J; Hong, Sunghoo S; Kim, Saewoong S; Yoon, Sungjoo Kim SK; Choi, Keonwoo K; Yang, Jihoon J; Park, Unsang U; Kim, Kwangjoong K; Yim, Kwangil K; Kim, Yuil Y; Choi, Yeongjin Y

Publication Date: 2022-01-14

Variant appearance in text: VHL: 353T>C; Leu118Pro

PubMed Link: 35055428

Variant Present in the following documents:

• Main text
• jpm-12-00113.pdf

View BVdb publication page

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Identification of Survival-Specific Genes in Clear Cell Renal Cell Carcinoma Using a Customized Next-Generation Sequencing Gene Panel.

Journal Of Personalized Medicine

Hwang, Jia J; Kim, Heeeun H; Han, Jinseon J; Lee, Jieun J; Hong, Sunghoo S; Kim, Saewoong S; Yoon, Sungjoo Kim SK; Choi, Keonwoo K; Yang, Jihoon J; Park, Unsang U; Kim, Kwangjoong K; Yim, Kwangil K; Kim, Yuil Y; Choi, Yeongjin Y

Publication Date: 2022-01-14

Variant appearance in text: VHL: 353T>C; Leu118Pro

PubMed Link: 35055428

Variant Present in the following documents:

• Main text
• jpm-12-00113.pdf

View BVdb publication page

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Identification of a VHL gene mutation in atypical Von Hippel-Lindau syndrome: genotype-phenotype correlation and gene therapy perspective.

Cancer Cell International

Tong, Dali D; Zhang, Yao Y; Jiang, Jun J; Bi, Gang G

Publication Date: 2021-12-19

Variant appearance in text: VHL: 353T>C

PubMed Link: 34923986

Variant Present in the following documents:

• 12935_2021_Article_2386.pdf

View BVdb publication page

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Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Frontiers In Endocrinology

Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C

Publication Date: 2021

Variant appearance in text: VHL: L118P

PubMed Link: 34630336

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

View BVdb publication page

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Improvement of Neoantigen Identification Through Convolution Neural Network.

Frontiers In Immunology

Hao, Qing Q; Wei, Ping P; Shu, Yang Y; Zhang, Yi-Guan YG; Xu, Heng H; Zhao, Jun-Ning JN

Publication Date: 2021

Variant appearance in text: VHL: L118P

PubMed Link: 34113354

Variant Present in the following documents:

• Table_1.xlsx, sheet 12

View BVdb publication page

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Mutational landscape and potential therapeutic targets for sporadic pancreatic neuroendocrine tumors based on target next-generation sequencing.

Experimental And Therapeutic Medicine

Zheng, Kailian K; Liu, Tao T; Zhao, Jiangman J; Meng, Peng P; Bian, Yun Y; Ni, Chenming C; Wang, Huan H; Pan, Yaqi Y; Wu, Shouxin S; Jiang, Hui H; Jin, Gang G

Publication Date: 2021-05

Variant appearance in text: VHL: L118P

PubMed Link: 33747156

Variant Present in the following documents:

• Supplementary_Data3.xlsx, sheet 1

View BVdb publication page

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Mutation profile and immunoscore signature in thymic carcinomas: An exploratory study and review of the literature.

Thoracic Cancer

Asselta, Rosanna R; Di Tommaso, Luca L; Perrino, Matteo M; Destro, Annarita A; Giordano, Laura L; Cardamone, Giulia G; Rubino, Luca L; Santoro, Armando A; Duga, Stefano S; Zucali, Paolo Andrea PA

Publication Date: 2021-05

Variant appearance in text: VHL: 353T>C; L118P

PubMed Link: 33704917

Variant Present in the following documents:

• TCA-12-1271-s003.xls, sheet 1

View BVdb publication page

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Integrative molecular characterization of sarcomatoid and rhabdoid renal cell carcinoma.

Nature Communications

Bakouny, Ziad Z; Braun, David A DA; Shukla, Sachet A SA; Pan, Wenting W; Gao, Xin X; Hou, Yue Y; Flaifel, Abdallah A; Tang, Stephen S; Bosma-Moody, Alice A; He, Meng Xiao MX; Vokes, Natalie N; Nyman, Jackson J; Xie, Wanling W; Nassar, Amin H AH; Abou Alaiwi, Sarah S; Flippot, Ronan R; Bouchard, Gabrielle G; Steinharter, John A JA; Nuzzo, Pier Vitale PV; Ficial, Miriam M; Sant'Angelo, Miriam M; Forman, Juliet J; Berchuck, Jacob E JE; Dudani, Shaan S; Bi, Kevin K; Park, Jihye J; Camp, Sabrina S; Sticco-Ivins, Maura M; Hirsch, Laure L; Baca, Sylvan C SC; Wind-Rotolo, Megan M; Ross-Macdonald, Petra P; Sun, Maxine M; Lee, Gwo-Shu Mary GM; Chang, Steven L SL; Wei, Xiao X XX; McGregor, Bradley A BA; Harshman, Lauren C LC; Genovese, Giannicola G; Ellis, Leigh L; Pomerantz, Mark M; Hirsch, Michelle S MS; Freedman, Matthew L ML; Atkins, Michael B MB; Wu, Catherine J CJ; Ho, Thai H TH; Linehan, W Marston WM; McDermott, David F DF; Heng, Daniel Y C DYC; Viswanathan, Srinivas R SR; Signoretti, Sabina S; Van Allen, Eliezer M EM; Choueiri, Toni K TK

Publication Date: 2021-02-05

Variant appearance in text: VHL: 353T>C; L118P

PubMed Link: 33547292

Variant Present in the following documents:

• 41467_2021_21068_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Molecular correlates and therapeutic targets in T cell-inflamed versus non-T cell-inflamed tumors across cancer types.

Genome Medicine

Bao, Riyue R; Stapor, Daniel D; Luke, Jason J JJ

Publication Date: 2020-10-27

Variant appearance in text: VHL: L118P

PubMed Link: 33106165

Variant Present in the following documents:

• 13073_2020_787_MOESM1_ESM.xlsx, sheet 9

View BVdb publication page

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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: VHL: 353T>C; Leu118Pro

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 4
• aba1773_Data_file_S1.xlsx, sheet 2
• aba1773_Data_file_S1.xlsx, sheet 3

View BVdb publication page

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Patient specific circulating tumor DNA fingerprints to monitor treatment response across multiple tumors.

Journal Of Translational Medicine

Li, Jiaping J; Jiang, Wei W; Wei, Jinwang J; Zhang, Jianwei J; Cai, Linbo L; Luo, Minjie M; Wang, Zhan Z; Sun, Wending W; Wang, Shengzhou S; Wang, Chen C; Dai, Chun C; Liu, Jun J; Wang, Guan G; Wang, Jiping J; Xu, Qiang Q; Deng, Yanhong Y

Publication Date: 2020-08-01

Variant appearance in text: VHL: 353T>C; L118P

PubMed Link: 32738923

Variant Present in the following documents:

• 12967_2020_2449_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: VHL: L118P

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

View BVdb publication page

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Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association

Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H

Publication Date: 2020-07

Variant appearance in text: VHL: L118P

PubMed Link: 32107691

Variant Present in the following documents:

• 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12

View BVdb publication page

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Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology

Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M

Publication Date: 2020-01-07

Variant appearance in text: VHL: 353T>C; L118P

PubMed Link: 31925297

Variant Present in the following documents:

• 42003_2019_736_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Identification of 12 cancer types through genome deep learning.

Scientific Reports

Sun, Yingshuai Y; Zhu, Sitao S; Ma, Kailong K; Liu, Weiqing W; Yue, Yao Y; Hu, Gang G; Lu, Huifang H; Chen, Wenbin W

Publication Date: 2019-11-21

Variant appearance in text: VHL: L118P

PubMed Link: 31754222

Variant Present in the following documents:

• 41598_2019_53989_MOESM4_ESM.xlsx, sheet 5

View BVdb publication page

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Development and validation of a targeted gene sequencing panel for application to disparate cancers.

Scientific Reports

McCabe, Mark J MJ; Gauthier, Marie-Emilie A MA; Chan, Chia-Ling CL; Thompson, Tanya J TJ; De Sousa, Sunita M C SMC; Puttick, Clare C; Grady, John P JP; Gayevskiy, Velimir V; Tao, Jiang J; Ying, Kevin K; Cipponi, Arcadi A; Deng, Niantao N; Swarbrick, Alex A; Thomas, Melissa L ML; Lord, Reginald V RV; Johns, Amber L AL; Kohonen-Corish, Maija M; O'Toole, Sandra A SA; Clark, Jonathan J; Mueller, Simon A SA; Gupta, Ruta R; McCormack, Ann I AI; Dinger, Marcel E ME; Cowley, Mark J MJ; ,

Publication Date: 2019-11-19

Variant appearance in text: VHL: 353T>C; L118P

PubMed Link: 31745186

Variant Present in the following documents:

• 41598_2019_52000_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Validation and Clinical Applications of a Comprehensive Next Generation Sequencing System for Molecular Characterization of Solid Cancer Tissues.

Frontiers In Molecular Biosciences

Dehghani, Mehdi M; Rosenblatt, Kevin P KP; Li, Lei L; Rakhade, Mrudula M; Amato, Robert J RJ

Publication Date: 2019

Variant appearance in text: VHL: Leu118Pro

PubMed Link: 31681791

Variant Present in the following documents:

• Data_Sheet_5.pdf

View BVdb publication page

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Estimating dispensable content in the human interactome.

Nature Communications

Ghadie, Mohamed M; Xia, Yu Y

Publication Date: 2019-07-19

Variant appearance in text: VHL: 353T>C; Leu118Pro

PubMed Link: 31324802

Variant Present in the following documents:

• 41467_2019_11180_MOESM8_ESM.xlsx, sheet 4
• 41467_2019_11180_MOESM6_ESM.xlsx, sheet 4

View BVdb publication page

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Molecular Profiling of Druggable Targets in Clear Cell Renal Cell Carcinoma Through Targeted RNA Sequencing.

Frontiers In Oncology

van den Heuvel, Corina N A M CNAM; van Ewijk, Anne A; Zeelen, Carolien C; de Bitter, Tessa T; Huynen, Martijn M; Mulders, Peter P; Oosterwijk, Egbert E; Leenders, William P J WPJ

Publication Date: 2019

Variant appearance in text: VHL: 353T>C; L118P

PubMed Link: 30881919

Variant Present in the following documents:

• Main text
• fonc-09-00117.pdf

View BVdb publication page

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Single-cell genetic analysis validates cytopathological identification of circulating cancer cells in patients with clear cell renal cell carcinoma.

Oncotarget

Broncy, Lucile L; Njima, Basma Ben BB; Méjean, Arnaud A; Béroud, Christophe C; Romdhane, Khaled Ben KB; Ilie, Marius M; Hofman, Veronique V; Muret, Jane J; Hofman, Paul P; Bouhamed, Habiba Chaabouni HC; Paterlini-Bréchot, And Patrizia AP

Publication Date: 2018-04-13

Variant appearance in text: VHL: 353T>C; L118P

PubMed Link: 29732003

Variant Present in the following documents:

• Main text
• oncotarget-09-20058.pdf

View BVdb publication page

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The Cancer Genome Atlas Comprehensive Molecular Characterization of Renal Cell Carcinoma.

Cell Reports

Ricketts, Christopher J CJ; De Cubas, Aguirre A AA; Fan, Huihui H; Smith, Christof C CC; Lang, Martin M; Reznik, Ed E; Bowlby, Reanne R; Gibb, Ewan A EA; Akbani, Rehan R; Beroukhim, Rameen R; Bottaro, Donald P DP; Choueiri, Toni K TK; Gibbs, Richard A RA; Godwin, Andrew K AK; Haake, Scott S; Hakimi, A Ari AA; Henske, Elizabeth P EP; Hsieh, James J JJ; Ho, Thai H TH; Kanchi, Rupa S RS; Krishnan, Bhavani B; Kwiatkowski, David J DJ; Lui, Wembin W; Merino, Maria J MJ; Mills, Gordon B GB; Myers, Jerome J; Nickerson, Michael L ML; Reuter, Victor E VE; Schmidt, Laura S LS; Shelley, C Simon CS; Shen, Hui H; Shuch, Brian B; Signoretti, Sabina S; Srinivasan, Ramaprasad R; Tamboli, Pheroze P; Thomas, George G; Vincent, Benjamin G BG; Vocke, Cathy D CD; Wheeler, David A DA; Yang, Lixing L; Kim, William Y WY; Robertson, A Gordon AG; , ; Spellman, Paul T PT; Rathmell, W Kimryn WK; Linehan, W Marston WM

Publication Date: 2018-04-03

Variant appearance in text: VHL: 353T>C; Leu118Pro

PubMed Link: 29617669

Variant Present in the following documents:

• NIHMS958988-supplement-3.xlsx, sheet 1

View BVdb publication page

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Pan-urologic cancer genomic subtypes that transcend tissue of origin.

Nature Communications

Chen, Fengju F; Zhang, Yiqun Y; Bossé, Dominick D; Lalani, Aly-Khan A AA; Hakimi, A Ari AA; Hsieh, James J JJ; Choueiri, Toni K TK; Gibbons, Don L DL; Ittmann, Michael M; Creighton, Chad J CJ

Publication Date: 2017-08-04

Variant appearance in text: VHL: 353T>C; L118P

PubMed Link: 28775315

Variant Present in the following documents:

• 41467_2017_289_MOESM7_ESM.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: VHL: 353T>C; L118P

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

View BVdb publication page

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Phosphorylation-dependent cleavage regulates von Hippel Lindau proteostasis and function.

Oncogene

German, P P; Bai, S S; Liu, X-D XD; Sun, M M; Zhou, L L; Kalra, S S; Zhang, X X; Minelli, R R; Scott, K L KL; Mills, G B GB; Jonasch, E E; Ding, Z Z

Publication Date: 2016-09-22

Variant appearance in text: VHL: L118P

PubMed Link: 26973240

Variant Present in the following documents:

• Main text

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: VHL: L118P; rs5030830

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Gender Specific Mutation Incidence and Survival Associations in Clear Cell Renal Cell Carcinoma (CCRCC).

Plos One

Ricketts, Christopher J CJ; Linehan, W Marston WM

Publication Date: 2015

Variant appearance in text: VHL: L118P

PubMed Link: 26484545

Variant Present in the following documents:

• pone.0140257.s003.xlsx, sheet 1

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: VHL: L118P; rs5030830

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1
• 12859_2015_673_MOESM2_ESM.xls, sheet 1

View BVdb publication page

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Protein domain-level landscape of cancer-type-specific somatic mutations.

Plos Computational Biology

Yang, Fan F; Petsalaki, Evangelia E; Rolland, Thomas T; Hill, David E DE; Vidal, Marc M; Roth, Frederick P FP

Publication Date: 2015-03

Variant appearance in text: VHL: L118P

PubMed Link: 25794154

Variant Present in the following documents:

• pcbi.1004147.s001.xlsx, sheet 1

View BVdb publication page

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Genetic and pharmacological strategies to refunctionalize the von Hippel Lindau R167Q mutant protein.

Cancer Research

Ding, Zhiyong Z; German, Peter P; Bai, Shanshan S; Reddy, A Srinivas AS; Liu, Xian-De XD; Sun, Mianen M; Zhou, Lijun L; Chen, Xiaohua X; Zhao, Xiaobei X; Wu, Chengbiao C; Zhang, Shuxing S; Mills, Gordon B GB; Jonasch, Eric E

Publication Date: 2014-06-01

Variant appearance in text: VHL: L118P

PubMed Link: 24755468

Variant Present in the following documents:

• Main text

View BVdb publication page

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Tumor genetic analyses of patients with metastatic renal cell carcinoma and extended benefit from mTOR inhibitor therapy.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Voss, Martin H MH; Hakimi, A Ari AA; Pham, Can G CG; Brannon, A Rose AR; Chen, Ying-Bei YB; Cunha, Luis F LF; Akin, Oguz O; Liu, Han H; Takeda, Shugaku S; Scott, Sasinya N SN; Socci, Nicholas D ND; Viale, Agnes A; Schultz, Nikolaus N; Sander, Chris C; Reuter, Victor E VE; Russo, Paul P; Cheng, Emily H EH; Motzer, Robert J RJ; Berger, Michael F MF; Hsieh, James J JJ

Publication Date: 2014-04-01

Variant appearance in text: VHL: L118P

PubMed Link: 24622468

Variant Present in the following documents:

• Main text

View BVdb publication page

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Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics

Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z

Publication Date: 2013

Variant appearance in text: VHL: L118P

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 1

View BVdb publication page

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Identification of 3 novel VHL germ-line mutations in Danish VHL patients.

Bmc Medical Genetics

Dandanell, Mette M; Friis-Hansen, Lennart L; Sunde, Lone L; Nielsen, Finn C FC; Hansen, Thomas V O TV

Publication Date: 2012-07-16

Variant appearance in text: VHL: 353T>C; Leu118Pro

PubMed Link: 22799452

Variant Present in the following documents:

• Main text
• 1471-2350-13-54.pdf

View BVdb publication page

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Predicting the functional impact of protein mutations: application to cancer genomics.

Nucleic Acids Research

Reva, Boris B; Antipin, Yevgeniy Y; Sander, Chris C

Publication Date: 2011-09-01

Variant appearance in text: VHL: L118P

PubMed Link: 21727090

Variant Present in the following documents:

• supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1

View BVdb publication page

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Functional and oncologic outcomes of partial adrenalectomy for pheochromocytoma in patients with von Hippel-Lindau syndrome after at least 5 years of followup.

The Journal Of Urology

Benhammou, Jihane N JN; Boris, Ronald S RS; Pacak, Karel K; Pinto, Peter A PA; Linehan, W Marston WM; Bratslavsky, Gennady G

Publication Date: 2010-11

Variant appearance in text: VHL: L118P

PubMed Link: 20846682

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mutations in the von hippel-lindau tumour suppressor gene in central nervous system hemangioblastomas.

Hereditary Cancer In Clinical Practice

Cybulski, Cezary C; Matyjasik, Joanna J; Soroka, Marianna M; Szymaś, Janusz J; Górski, Bohdan B; Debniak, Tadeusz T; Jakubowska, Anna A; Bernaczyk, Andrzej A; Zimnoch, Lech L; Bierzyńska-Macyszyn, Grazyna G; Trojanowski, Tomasz T; Wierzba-Bobrowicz, Teresa T; Prudlak, Edmund E; Markowska-Wojciechowska, Alicja A; Nowacki, Przemysław P; Roszkiewicz, Andrzej A; Kordek, Radzisław R; Szylberg, Tadeusz T; Matyja, Ewa E; Zieliński, Krzysztof K; Woźniewicz, Bogdan B; Taraszewska, Anna A; Kozłowski, Wojciech W; Lubiński, Jan J

Publication Date: 2004-03-15

Variant appearance in text: VHL: leu118pro

PubMed Link: 20233476

Variant Present in the following documents:

• Main text
• 1897-4287-2-2-93.pdf

View BVdb publication page

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