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: 233A>T; Asn78Ile

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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Algorithmic assessment of missense mutation severity in the Von-Hippel Lindau protein.

Plos One

Fields, Francisco R FR; Suresh, Niraja N; Hiller, Morgan M; Freed, Stefan D SD; Haldar, Kasturi K; Lee, Shaun W SW

Publication Date: 2020

Variant appearance in text: VHL: N78I

PubMed Link: 33151962

Variant Present in the following documents:

• Main text
• pone.0234100.pdf

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: 233A>T; N78I

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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Molecular characterization of sarcomatoid clear cell renal cell carcinoma unveils new candidate oncogenic drivers.

Scientific Reports

Malouf, Gabriel G GG; Flippot, Ronan R; Dong, Yiyu Y; Dinatale, Renzo G RG; Chen, Ying-Bei YB; Su, Xiaoping X; Compérat, Eva E; Rouprêt, Morgan M; Mano, Roy R; Blum, Kyle A KA; Yao, Hui H; Mouawad, Roger R; Spano, Jean-Philippe JP; Khayat, David D; Karam, Jose A JA; Ho, Thai H TH; Tickoo, Satish K SK; Russo, Paul P; Hsieh, James J JJ; Tannir, Nizar M NM; Hakimi, Abraham A AA

Publication Date: 2020-01-20

Variant appearance in text: rs5030804

PubMed Link: 31959902

Variant Present in the following documents:

• 41598_2020_57534_MOESM1_ESM.xlsx, sheet 3

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: rs5030804

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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PredictSNP2: A Unified Platform for Accurately Evaluating SNP Effects by Exploiting the Different Characteristics of Variants in Distinct Genomic Regions.

Plos Computational Biology

Bendl, Jaroslav J; Musil, Miloš M; Štourač, Jan J; Zendulka, Jaroslav J; Damborský, Jiří J; Brezovský, Jan J

Publication Date: 2016-05

Variant appearance in text: VHL: N78I

PubMed Link: 27224906

Variant Present in the following documents:

• pcbi.1004962.s005.xlsx, sheet 1

View BVdb publication page

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Patient-derived cell models as preclinical tools for genome-directed targeted therapy.

Oncotarget

Lee, Ji Yun JY; Kim, Sun Young SY; Park, Charny C; Kim, Nayoung K D NK; Jang, Jiryeon J; Park, Kyunghee K; Yi, Jun Ho JH; Hong, Mineui M; Ahn, Taejin T; Rath, Oliver O; Schueler, Julia J; Kim, Seung Tae ST; Do, In-Gu IG; Lee, Sujin S; Park, Se Hoon SH; Ji, Yong Ick YI; Kim, Dukwhan D; Park, Joon Oh JO; Park, Young Suk YS; Kang, Won Ki WK; Kim, Kyoung-Mee KM; Park, Woong-Yang WY; Lim, Ho Yeong HY; Lee, Jeeyun J

Publication Date: 2015-09-22

Variant appearance in text: rs5030804

PubMed Link: 26296973

Variant Present in the following documents:

• oncotarget-06-25619-s004.xlsx, sheet 1

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: N78I

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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Three novel germ-line VHL mutations in Hungarian von Hippel-Lindau patients, including a nonsense mutation in a fifteen-year-old boy with renal cell carcinoma.

Bmc Medical Genetics

Losonczy, Gergely G; Fazakas, Ferenc F; Pfliegler, György G; Komáromi, István I; Balázs, Erzsébet E; Pénzes, Krisztina K; Berta, András A

Publication Date: 2013-01-08

Variant appearance in text: VHL: N78I

PubMed Link: 23298237

Variant Present in the following documents:

• Main text
• 1471-2350-14-3.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: N78I

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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Determination of angptl4 mRNA as a diagnostic marker of primary and metastatic clear cell renal-cell carcinoma.

Plos One

Verine, Jérôme J; Lehmann-Che, Jacqueline J; Soliman, Hany H; Feugeas, Jean-Paul JP; Vidal, Jean-Sébastien JS; Mongiat-Artus, Pierre P; Belhadj, Stéphanie S; Philippe, Josette J; Lesage, Matthieu M; Wittmer, Evelyne E; Chanel, Stéphane S; Couvelard, Anne A; Ferlicot, Sophie S; Rioux-Leclercq, Nathalie N; Vignaud, Jean-Michel JM; Janin, Anne A; Germain, Stéphane S

Publication Date: 2010-04-29

Variant appearance in text: VHL: 233A>T

PubMed Link: 20454689

Variant Present in the following documents:

• Main text

View BVdb publication page

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Systematic sequencing of renal carcinoma reveals inactivation of histone modifying genes.

Nature

Dalgliesh, Gillian L GL; Furge, Kyle K; Greenman, Chris C; Chen, Lina L; Bignell, Graham G; Butler, Adam A; Davies, Helen H; Edkins, Sarah S; Hardy, Claire C; Latimer, Calli C; Teague, Jon J; Andrews, Jenny J; Barthorpe, Syd S; Beare, Dave D; Buck, Gemma G; Campbell, Peter J PJ; Forbes, Simon S; Jia, Mingming M; Jones, David D; Knott, Henry H; Kok, Chai Yin CY; Lau, King Wai KW; Leroy, Catherine C; Lin, Meng-Lay ML; McBride, David J DJ; Maddison, Mark M; Maguire, Simon S; McLay, Kirsten K; Menzies, Andrew A; Mironenko, Tatiana T; Mulderrig, Lee L; Mudie, Laura L; O'Meara, Sarah S; Pleasance, Erin E; Rajasingham, Arjunan A; Shepherd, Rebecca R; Smith, Raffaella R; Stebbings, Lucy L; Stephens, Philip P; Tang, Gurpreet G; Tarpey, Patrick S PS; Turrell, Kelly K; Dykema, Karl J KJ; Khoo, Sok Kean SK; Petillo, David D; Wondergem, Bill B; Anema, John J; Kahnoski, Richard J RJ; Teh, Bin Tean BT; Stratton, Michael R MR; Futreal, P Andrew PA

Publication Date: 2010-01-21

Variant appearance in text: VHL: 233A>T; N78I

PubMed Link: 20054297

Variant Present in the following documents:

• NIHMS28099-supplement-7.xls, sheet 1

View BVdb publication page

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