Publications:

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Altered cytoplasmic and nuclear ADP-ribosylation levels analyzed with an improved ADP-ribose binder are a prognostic factor in renal cell carcinoma.

The Journal Of Pathology. Clinical Research

Schraml, Peter P; Aimi, Fabio F; Zoche, Martin M; Aguilera-Garcia, Domingo D; Arnold, Fabian F; Moch, Holger H; Hottiger, Michael O MO

Publication Date: 2023-03-31

Variant appearance in text: VHL: R113*

PubMed Link: 36999983

Variant Present in the following documents:

• CJP2-9-273-s001.xlsx, sheet 14

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Variant Spectrum of von Hippel-Lindau (VHL) disease and its genomic heterogeneity in Japan.

Human Molecular Genetics

Tamura, Kenji K; Kanazashi, Yuki Y; Kawada, Chiaki C; Sekine, Yuya Y; Maejima, Kazuhiro K; Ashida, Shingo S; Karashima, Takashi T; Kojima, Shohei S; Parrish, Nickolas F NF; Kosugi, Shunichi S; Terao, Chikashi C; Sasagawa, Shota S; Fujita, Masashi M; Johnson, Todd A TA; Momozawa, Yukihide Y; Inoue, Keiji K; Shuin, Taro T; Nakagawa, Hidewaki H

Publication Date: 2023-03-11

Variant appearance in text: VHL: 337C>T; Arg113*

PubMed Link: 36905328

Variant Present in the following documents:

• suple_tables_vhl_v6_0_ddad039.xlsx, sheet 2

View BVdb publication page

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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: 337C>T; Arg113Ter

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: 337C>T; Arg113*; rs5030810

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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Clinical genomic profiling in the management of patients with soft tissue and bone sarcoma.

Nature Communications

Gounder, Mrinal M MM; Agaram, Narasimhan P NP; Trabucco, Sally E SE; Robinson, Victoria V; Ferraro, Richard A RA; Millis, Sherri Z SZ; Krishnan, Anita A; Lee, Jessica J; Attia, Steven S; Abida, Wassim W; Drilon, Alexander A; Chi, Ping P; Angelo, Sandra P D' SP; Dickson, Mark A MA; Keohan, Mary Lou ML; Kelly, Ciara M CM; Agulnik, Mark M; Chawla, Sant P SP; Choy, Edwin E; Chugh, Rashmi R; Meyer, Christian F CF; Myer, Parvathi A PA; Moore, Jessica L JL; Okimoto, Ross A RA; Pollock, Raphael E RE; Ravi, Vinod V; Singh, Arun S AS; Somaiah, Neeta N; Wagner, Andrew J AJ; Healey, John H JH; Frampton, Garrett M GM; Venstrom, Jeffrey M JM; Ross, Jeffrey S JS; Ladanyi, Marc M; Singer, Samuel S; Brennan, Murray F MF; Schwartz, Gary K GK; Lazar, Alexander J AJ; Thomas, David M DM; Maki, Robert G RG; Tap, William D WD; Ali, Siraj M SM; Jin, Dexter X DX

Publication Date: 2022-06-15

Variant appearance in text: VHL: R113*

PubMed Link: 35705558

Variant Present in the following documents:

• 41467_2022_30496_MOESM2_ESM.xls, sheet 1

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: 337C>T

PubMed Link: 35055428

Variant Present in the following documents:

• Main text

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: 337C>T

PubMed Link: 35055428

Variant Present in the following documents:

• Main text

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: 337C>T

PubMed Link: 34923986

Variant Present in the following documents:

• 12935_2021_Article_2386.pdf

View BVdb publication page

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A renal cell carcinoma tumorgraft platform to advance precision medicine.

Cell Reports

Elias, Roy R; Tcheuyap, Vanina T VT; Kaushik, Akash K AK; Singla, Nirmish N; Gao, Ming M; Reig Torras, Oscar O; Christie, Alana A; Mulgaonkar, Aditi A; Woolford, Layton L; Stevens, Christina C; Kettimuthu, Kavitha Priya KP; Pavia-Jimenez, Andrea A; Boroughs, Lindsey K LK; Joyce, Allison A; Dakanali, Marianna M; Notgrass, Hollis H; Margulis, Vitaly V; Cadeddu, Jeffrey A JA; Pedrosa, Ivan I; Williams, Noelle S NS; Sun, Xiankai X; DeBerardinis, Ralph J RJ; Öz, Orhan K OK; Zhong, Hua H; Seshagiri, Somasekar S; Modrusan, Zora Z; Cantarel, Brandi L BL; Kapur, Payal P; Brugarolas, James J

Publication Date: 2021-11-23

Variant appearance in text: VHL: 337C>T; R113*

PubMed Link: 34818533

Variant Present in the following documents:

• NIHMS1761779-supplement-Table_S8.xlsx, sheet 1

View BVdb publication page

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A renal cell carcinoma tumorgraft platform to advance precision medicine.

Cell Reports

Elias, Roy R; Tcheuyap, Vanina T VT; Kaushik, Akash K AK; Singla, Nirmish N; Gao, Ming M; Reig Torras, Oscar O; Christie, Alana A; Mulgaonkar, Aditi A; Woolford, Layton L; Stevens, Christina C; Kettimuthu, Kavitha Priya KP; Pavia-Jimenez, Andrea A; Boroughs, Lindsey K LK; Joyce, Allison A; Dakanali, Marianna M; Notgrass, Hollis H; Margulis, Vitaly V; Cadeddu, Jeffrey A JA; Pedrosa, Ivan I; Williams, Noelle S NS; Sun, Xiankai X; DeBerardinis, Ralph J RJ; Öz, Orhan K OK; Zhong, Hua H; Seshagiri, Somasekar S; Modrusan, Zora Z; Cantarel, Brandi L BL; Kapur, Payal P; Brugarolas, James J

Publication Date: 2021-11-23

Variant appearance in text: VHL: 337C>T; R113*

PubMed Link: 34818533

Variant Present in the following documents:

• NIHMS1761779-supplement-Table_S8.xlsx, sheet 1

View BVdb publication page

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Outcome and genetic analysis of patients affected by retinal capillary hemangioblastoma in von Hippel Lindau syndrome.

Molecular Vision

Murro, Vittoria V; Lippera, Myrta M; Mucciolo, Dario Pasquale DP; Canu, Letizia L; Ercolino, Tonino T; De Filpo, Giuseppina G; Giorgio, Dario D; Traficante, Giovanna G; Sodi, Andrea A; Virgili, Gianni G; Giansanti, Fabrizio F

Publication Date: 2021

Variant appearance in text: VHL: 337C>T; Arg113Ter

PubMed Link: 34566400

Variant Present in the following documents:

• Main text
• mv-v27-542.pdf

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: 337C>T; R113*

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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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: 337C>T; R113*

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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Frequent Mutations of VHL Gene and the Clinical Phenotypes in the Largest Chinese Cohort With Von Hippel-Lindau Disease.

Frontiers In Genetics

Hong, Baoan B; Ma, Kaifang K; Zhou, Jingcheng J; Zhang, Jiufeng J; Wang, Jiangyi J; Liu, Shengjie S; Zhang, Zhongyuan Z; Cai, Lin L; Zhang, Ning N; Gong, Kan K

Publication Date: 2019

Variant appearance in text: VHL: 337C>T

PubMed Link: 31620170

Variant Present in the following documents:

• fgene-10-00867.pdf

View BVdb publication page

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Von Hippel-Lindau with early onset of hemangioblastoma and multiple drop-metastases like spinal lesions: A case report.

Medicine

Nguyen, Thinh H TH; Pham, Teresia T; Strickland, Thea T; Brewer, Daniel D; Belirgen, Muhittin M; Al-Rahawan, Mohamad M MM

Publication Date: 2018-09

Variant appearance in text: VHL: 337C>T; Arg113Ter

PubMed Link: 30278534

Variant Present in the following documents:

• Main text
• medi-97-e12477.pdf

View BVdb publication page

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Novel genotype-phenotype correlations in five Chinese families with Von Hippel-Lindau disease.

Endocrine Connections

Liu, Qiuli Q; Yuan, Gang G; Tong, Dali D; Liu, Gaolei G; Yi, Yuting Y; Zhang, Jun J; Zhang, Yao Y; Wang, Lin-Ang LA; Wang, Luofu L; Zhang, Dianzheng D; Chen, Rongrong R; Guan, Yanfang Y; Yi, Xin X; Lan, Weihua W; Jiang, Jun J

Publication Date: 2018-07

Variant appearance in text: VHL: Arg113Ter

PubMed Link: 29871882

Variant Present in the following documents:

• Main text
• ec-7-870.pdf

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: 337C>T; R113*

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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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: VHL: 337C>T; Arg113Ter

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Association of urinary bladder paragangliomas with germline mutations in the SDHB and VHL genes.

Urologic Oncology

Martucci, Victoria L VL; Lorenzo, Zarina G ZG; Weintraub, Michael M; del Rivero, Jaydira J; Ling, Alexander A; Merino, Maria M; Siddiqui, Minhaj M; Shuch, Brian B; Vourganti, Srinivas S; Linehan, W Marston WM; Agarwal, Piyush K PK; Pacak, Karel K

Publication Date: 2015-04

Variant appearance in text: VHL: 337C>T; Arg113X

PubMed Link: 25683602

Variant Present in the following documents:

• Main text

View BVdb publication page

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Determination of the consequences of VHL mutations on VHL transcripts in renal cell carcinoma.

International Journal Of Oncology

Taylor, Claire C; Craven, Rachel A RA; Harnden, Patricia P; Selby, Peter J PJ; Banks, Rosamonde E RE

Publication Date: 2012-10

Variant appearance in text: VHL: 337C>T; R113*

PubMed Link: 22825683

Variant Present in the following documents:

• Main text
• ijo-41-04-1229.pdf

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: 337C>T; Arg113X

PubMed Link: 22799452

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: 337C>T; R113*

PubMed Link: 20054297

Variant Present in the following documents:

• NIHMS28099-supplement-7.xls, sheet 1

View BVdb publication page

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Analysis of VHL Gene Alterations and their Relationship to Clinical Parameters in Sporadic Conventional Renal Cell Carcinoma.

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

Young, Alison C AC; Craven, Rachel A RA; Cohen, Dena D; Taylor, Claire C; Booth, Christopher C; Harnden, Patricia P; Cairns, David A DA; Astuti, Dewi D; Gregory, Walter W; Maher, Eamonn R ER; Knowles, Margaret A MA; Joyce, Adrian A; Selby, Peter J PJ; Banks, Rosamonde E RE

Publication Date: 2009-12-15

Variant appearance in text: VHL: R113X

PubMed Link: 19996202

Variant Present in the following documents:

• Main text

View BVdb publication page

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