Publications:

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Recapitulating thyroid cancer histotypes through engineering embryonic stem cells.

Nature Communications

Veschi, Veronica V; Turdo, Alice A; Modica, Chiara C; Verona, Francesco F; Di Franco, Simone S; Gaggianesi, Miriam M; Tirrò, Elena E; Di Bella, Sebastiano S; Iacono, Melania Lo ML; Pantina, Vincenzo Davide VD; Porcelli, Gaetana G; Mangiapane, Laura Rosa LR; Bianca, Paola P; Rizzo, Aroldo A; Sciacca, Elisabetta E; Pillitteri, Irene I; Vella, Veronica V; Belfiore, Antonino A; Bongiorno, Maria Rita MR; Pistone, Giuseppe G; Memeo, Lorenzo L; Colarossi, Lorenzo L; Giuffrida, Dario D; Colarossi, Cristina C; Vigneri, Paolo P; Todaro, Matilde M; Stassi, Giorgio G

Publication Date: 2023-03-11

Variant appearance in text: VHL: 499C>T; Arg167Trp

PubMed Link: 36906579

Variant Present in the following documents:

• 41467_2023_36922_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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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: Arg167Trp

PubMed Link: 36905328

Variant Present in the following documents:

• Main text
• ddad039.pdf
• suple_tables_vhl_v6_0_ddad039.xlsx, sheet 4
• 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: 499C>T; Arg167Trp

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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Integrative Analysis of Germline Rare Variants in Clear and Non-Clear Cell Renal Cell Carcinoma.

Medrxiv : The Preprint Server For Health Sciences

Han, Seunghun S; Camp, Sabrina Y SY; Chu, Hoyin H; Collins, Ryan R; Gillani, Riaz R; Park, Jihye J; Bakouny, Ziad Z; Ricker, Cora A CA; Reardon, Brendan B; Moore, Nicholas N; Kofman, Eric E; Labaki, Chris C; Braun, David D; Choueiri, Toni K TK; AlDubayan, Saud H SH; Van Allen, Eliezer M EM

Publication Date: 2023-01-19

Variant appearance in text: VHL: 499C>T; Arg167Trp; rs5030820

PubMed Link: 36712083

Variant Present in the following documents:

• media-1.xlsx, sheet 5
• media-1.xlsx, sheet 10

View BVdb publication page

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The germline mutational landscape of genitourinary cancers and its indication for prognosis and risk.

Bmc Urology

Yang, Yong Y; Zhang, Guoying G; Hu, Chen C; Luo, Wei W; Jiang, Haiyang H; Liu, Shaoyou S; Yang, Hong H

Publication Date: 2022-11-30

Variant appearance in text: VHL: R167W

PubMed Link: 36451132

Variant Present in the following documents:

• Main text
• 12894_2022_Article_1141.pdf

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: R167W

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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VHL syndrome without clear family history: A rare case report and literature review of Chinese patients.

Frontiers In Neurology

Li, Yaheng Y; Xin, Xiaohong X; Song, Wenzhu W; Zhang, Xuan X; Chen, Shengli S; Wang, Qian Q; Li, Aizhong A; Li, Yafeng Y

Publication Date: 2022

Variant appearance in text: VHL: 499C>T; Arg167Trp

PubMed Link: 36324386

Variant Present in the following documents:

• Main text
• fneur-13-951054.pdf

View BVdb publication page

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Clinical and Genetic Characteristics of Retinal Capillary Hemangioblastoma in Korean Patients.

Korean Journal Of Ophthalmology : Kjo

Lee, Sang Ha SH; Park, Kyu Hyung KH; Woo, Se Joon SJ; Park, Sang Jun SJ; Joo, Kwangsic K

Publication Date: 2022-10-25

Variant appearance in text: VHL: Arg167Trp

PubMed Link: 36281577

Variant Present in the following documents:

• kjo-2022-0079.pdf

View BVdb publication page

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Single-nuclei and bulk-tissue gene-expression analysis of pheochromocytoma and paraganglioma links disease subtypes with tumor microenvironment.

Nature Communications

Zethoven, Magnus M; Martelotto, Luciano L; Pattison, Andrew A; Bowen, Blake B; Balachander, Shiva S; Flynn, Aidan A; Rossello, Fernando J FJ; Hogg, Annette A; Miller, Julie A JA; Frysak, Zdenek Z; Grimmond, Sean S; Fishbein, Lauren L; Tischler, Arthur S AS; Gill, Anthony J AJ; Hicks, Rodney J RJ; Dahia, Patricia L M PLM; Clifton-Bligh, Roderick R; Pacak, Karel K; Tothill, Richard W RW

Publication Date: 2022-10-21

Variant appearance in text: VHL: Arg167Trp

PubMed Link: 36271074

Variant Present in the following documents:

• 41467_2022_34011_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Combined therapy guided by multimodal imaging of fifteen retinal capillary hemangioblastomas in a monocular Von Hippel- Lindau syndrome case report.

Bmc Ophthalmology

Guo, Ju J; Du, Liping L; Zhou, Pengyi P; Guo, Xiaohong X; Dai, Fangfang F; Jin, Xuemin X

Publication Date: 2022-05-06

Variant appearance in text: VHL: Arg167Trp

PubMed Link: 35524216

Variant Present in the following documents:

• Main text
• 12886_2022_Article_2409.pdf

View BVdb publication page

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VHL-P138R and VHL-L163R Novel Variants: Mechanisms of VHL Pathogenicity Involving HIF-Dependent and HIF-Independent Actions.

Frontiers In Endocrinology

Mathó, Cecilia C; Fernández, María Celia MC; Bonanata, Jenner J; Liu, Xian-De XD; Martin, Ayelen A; Vieites, Ana A; Sansó, Gabriela G; Barontini, Marta M; Jonasch, Eric E; Coitiño, E Laura EL; Pennisi, Patricia Alejandra PA

Publication Date: 2022

Variant appearance in text: VHL: R167W

PubMed Link: 35388293

Variant Present in the following documents:

• Main text
• fendo-13-854365.pdf

View BVdb publication page

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Base editing sensor libraries for high-throughput engineering and functional analysis of cancer-associated single nucleotide variants.

Nature Biotechnology

Sánchez-Rivera, Francisco J FJ; Diaz, Bianca J BJ; Kastenhuber, Edward R ER; Schmidt, Henri H; Katti, Alyna A; Kennedy, Margaret M; Tem, Vincent V; Ho, Yu-Jui YJ; Leibold, Josef J; Paffenholz, Stella V SV; Barriga, Francisco M FM; Chu, Kevan K; Goswami, Sukanya S; Wuest, Alexandra N AN; Simon, Janelle M JM; Tsanov, Kaloyan M KM; Chakravarty, Debyani D; Zhang, Hongxin H; Leslie, Christina S CS; Lowe, Scott W SW; Dow, Lukas E LE

Publication Date: 2022-06

Variant appearance in text: VHL: R167W

PubMed Link: 35165384

Variant Present in the following documents:

• NIHMS1760571-supplement-Supplementary_Table_S2.xlsx, sheet 6
• NIHMS1760571-supplement-Supplementary_Table_S7.xlsx, sheet 5
• NIHMS1760571-supplement-Supplementary_Table_S2.xlsx, sheet 4

View BVdb publication page

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Blockade of β2-Adrenergic Receptor Reduces Inflammation and Oxidative Stress in Clear Cell Renal Cell Carcinoma.

International Journal Of Molecular Sciences

Albiñana, Virginia V; Recio-Poveda, Lucía L; González-Peramato, Pilar P; Martinez-Piñeiro, Luis L; Botella, Luisa María LM; Cuesta, Angel M AM

Publication Date: 2022-01-25

Variant appearance in text: VHL: Arg167Trp

PubMed Link: 35163250

Variant Present in the following documents:

• Main text
• ijms-23-01325.pdf

View BVdb publication page

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Blockade of β2-Adrenergic Receptor Reduces Inflammation and Oxidative Stress in Clear Cell Renal Cell Carcinoma.

International Journal Of Molecular Sciences

Albiñana, Virginia V; Recio-Poveda, Lucía L; González-Peramato, Pilar P; Martinez-Piñeiro, Luis L; Botella, Luisa María LM; Cuesta, Angel M AM

Publication Date: 2022-01-25

Variant appearance in text: VHL: Arg167Trp

PubMed Link: 35163250

Variant Present in the following documents:

• Main text
• ijms-23-01325.pdf

View BVdb publication page

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Deubiquitylase OTUD6B stabilizes the mutated pVHL and suppresses cell migration in clear cell renal cell carcinoma.

Cell Death & Disease

Guo, Kai K; Wei, Yinghua Y; Wang, Ze Z; Zhang, Xiaoli X; Zhang, Xin X; Liu, Xinxin X; Wu, Wenyong W; Wu, Zhengsheng Z; Zhang, Lingqiang L; Cui, Chun-Ping CP

Publication Date: 2022-02-02

Variant appearance in text: VHL: R167W

PubMed Link: 35110537

Variant Present in the following documents:

• Main text
• 41419_2021_Article_4135.pdf

View BVdb publication page

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Deubiquitylase OTUD6B stabilizes the mutated pVHL and suppresses cell migration in clear cell renal cell carcinoma.

Cell Death & Disease

Guo, Kai K; Wei, Yinghua Y; Wang, Ze Z; Zhang, Xiaoli X; Zhang, Xin X; Liu, Xinxin X; Wu, Wenyong W; Wu, Zhengsheng Z; Zhang, Lingqiang L; Cui, Chun-Ping CP

Publication Date: 2022-02-02

Variant appearance in text: VHL: R167W

PubMed Link: 35110537

Variant Present in the following documents:

• Main text
• 41419_2021_Article_4135.pdf

View BVdb publication page

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KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One

Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW

Publication Date: 2022

Variant appearance in text: rs5030820

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 8

View BVdb publication page

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KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One

Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW

Publication Date: 2022

Variant appearance in text: rs5030820

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 8

View BVdb publication page

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Retinal Glial Cells in Von Hippel-Lindau Disease: A Novel Approach in the Pathophysiology of Retinal Hemangioblastoma.

Cancers

Pilotto, Elisabetta E; Midena, Giulia G; Torresin, Tommaso T; De Mojà, Gilda G; Bacelle, Maria Laura ML; Ferrara, Alfonso Massimiliano AM; Zovato, Stefania S; Midena, Edoardo E

Publication Date: 2021-12-30

Variant appearance in text: VHL: 499C>T; Arg167Trp

PubMed Link: 35008334

Variant Present in the following documents:

• Main text

View BVdb publication page

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Retinal Glial Cells in Von Hippel-Lindau Disease: A Novel Approach in the Pathophysiology of Retinal Hemangioblastoma.

Cancers

Pilotto, Elisabetta E; Midena, Giulia G; Torresin, Tommaso T; De Mojà, Gilda G; Bacelle, Maria Laura ML; Ferrara, Alfonso Massimiliano AM; Zovato, Stefania S; Midena, Edoardo E

Publication Date: 2021-12-30

Variant appearance in text: VHL: 499C>T; Arg167Trp

PubMed Link: 35008334

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: 499C>T

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: R167W

PubMed Link: 34630336

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

View BVdb publication page

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Prevalence of Germline Variants in a Large Cohort of Japanese Patients with Pheochromocytoma and/or Paraganglioma.

Cancers

Yonamine, Masato M; Wasano, Koichiro K; Aita, Yuichi Y; Sugasawa, Takehito T; Takahashi, Katsutoshi K; Kawakami, Yasushi Y; Shimano, Hitoshi H; Nishiyama, Hiroyuki H; Hara, Hisato H; Naruse, Mitsuhide M; Okamoto, Takahiro T; Matsuda, Tadashi T; Kosugi, Shinji S; Horiguchi, Kazuhiko K; Tanabe, Akiyo A; Watanabe, Atsushi A; Kimura, Noriko N; Nakamura, Eijiro E; Sakurai, Akihiro A; Shiga, Kiyoto K; Takekoshi, Kazuhiro K

Publication Date: 2021-08-09

Variant appearance in text: VHL: 499C>T; R167W

PubMed Link: 34439168

Variant Present in the following documents:

• Main text
• cancers-13-04014.pdf

View BVdb publication page

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Clinical presentation, genotype-phenotype correlations, and outcome of pancreatic neuroendocrine tumors in Von Hippel-Lindau syndrome.

Endocrine

Penitenti, F F; Landoni, L L; Scardoni, M M; Piredda, M L ML; Cingarlini, S S; Scarpa, A A; D'Onofrio, M M; Girelli, D D; Davi, M V MV

Publication Date: 2021-10

Variant appearance in text: VHL: 499C>T; Arg167Trp

PubMed Link: 34036514

Variant Present in the following documents:

• Main text

View BVdb publication page

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Spatially interacting phosphorylation sites and mutations in cancer.

Nature Communications

Huang, Kuan-Lin KL; Scott, Adam D AD; Zhou, Daniel Cui DC; Wang, Liang-Bo LB; Weerasinghe, Amila A; Elmas, Abdulkadir A; Liu, Ruiyang R; Wu, Yige Y; Wendl, Michael C MC; Wyczalkowski, Matthew A MA; Baral, Jessika J; Sengupta, Sohini S; Lai, Chin-Wen CW; Ruggles, Kelly K; Payne, Samuel H SH; Raphael, Benjamin B; Fenyö, David D; Chen, Ken K; Mills, Gordon G; Ding, Li L

Publication Date: 2021-04-19

Variant appearance in text: VHL: R167W

PubMed Link: 33875650

Variant Present in the following documents:

• 41467_2021_22481_MOESM4_ESM.xlsx, sheet 6
• 41467_2021_22481_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Seven Novel Genes Related to Cell Proliferation and Migration of VHL-Mutated Pheochromocytoma.

Frontiers In Endocrinology

Gao, Shuai S; Liu, Longfei L; Li, Zhuolin Z; Pang, Yingxian Y; Shi, Jiaqi J; Zhu, Feizhou F

Publication Date: 2021

Variant appearance in text: VHL: 499C>T; R167W

PubMed Link: 33828526

Variant Present in the following documents:

• Main text
• fendo-12-598656.pdf

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: 499C>T; R167W

PubMed Link: 33704917

Variant Present in the following documents:

• TCA-12-1271-s003.xls, sheet 1

View BVdb publication page

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Genetic Analysis and Clinical Characteristics of Hereditary Pheochromocytoma and Paraganglioma Syndrome in Korean Population.

Endocrinology And Metabolism (Seoul, Korea)

Choi, Heewon H; Kim, Kyoung Jin KJ; Hong, Namki N; Shin, Saeam S; Choi, Jong-Rak JR; Kang, Sang Wook SW; Lee, Seung Tae ST; Rhee, Yumie Y

Publication Date: 2020-12

Variant appearance in text: VHL: 499C>T; Arg167Trp

PubMed Link: 33397040

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic and Clinical Profiles of Pheochromocytoma and Paraganglioma: A Single Center Study.

Frontiers In Endocrinology

Ma, Xiaosen X; Li, Ming M; Tong, Anli A; Wang, Fen F; Cui, Yunying Y; Zhang, Xuebin X; Zhang, Yushi Y; Chen, Shi S; Li, Yuxiu Y

Publication Date: 2020

Variant appearance in text: VHL: 499C>T; R167W

PubMed Link: 33362715

Variant Present in the following documents:

• Main text
• fendo-11-574662.pdf

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: R167W

PubMed Link: 33151962

Variant Present in the following documents:

• Main text
• pone.0234100.pdf

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: R167W

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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Clinical decision making in small non-functioning VHL-related incidentalomas.

Endocrine Connections

Därr, Roland R; Kater, Jonas J; Sekula, Peggy P; Bausch, Birke B; Krauss, Tobias T; Bode, Christoph C; Walz, Gerd G; Neumann, Hartmut P HP; Zschiedrich, Stefan S

Publication Date: 2020-08

Variant appearance in text: VHL: Arg167Trp

PubMed Link: 32869749

Variant Present in the following documents:

• Main text

View BVdb publication page

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177Lu-DOTATATE therapy in metastatic/inoperable pheochromocytoma-paraganglioma.

Endocrine Connections

Jaiswal, Sanjeet Kumar SK; Sarathi, Vijaya V; Memon, Saba Samad SS; Garg, Robin R; Malhotra, Gaurav G; Verma, Priyanka P; Shah, Ravikumar R; Sehemby, Manjeet Kaur MK; Patil, Virendra A VA; Jadhav, Swati S; Lila, Anurag Ranjan AR; Shah, Nalini S NS; Bandgar, Tushar R TR

Publication Date: 2020-10

Variant appearance in text: VHL: Arg167Trp

PubMed Link: 32784267

Variant Present in the following documents:

• Main text

View BVdb publication page

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Clinical diagnosis, treatment and screening of the VHL gene in three von Hippel-Lindau disease pedigrees.

Experimental And Therapeutic Medicine

Lin, Guobing G; Zhao, Yihua Y; Zhang, Zhewei Z; Zhang, Huijiang H

Publication Date: 2020-08

Variant appearance in text: VHL: R167W

PubMed Link: 32742360

Variant Present in the following documents:

• Main text
• etm-20-02-1237.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: 499C>T; R167W

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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Genetic and epigenetic alterations in pancreatic neuroendocrine tumors.

Journal Of Gastrointestinal Oncology

Tirosh, Amit A; Kebebew, Electron E

Publication Date: 2020-06

Variant appearance in text: VHL: R167W

PubMed Link: 32655936

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic screening for monogenic hypertension in hypertensive individuals in a clinical setting.

Journal Of Medical Genetics

Bao, Minghui M; Li, Ping P; Li, Qifu Q; Chen, Hui H; Zhong, Ying Y; Li, Shuangyue S; Jin, Ling L; Wang, Wenjie W; Chen, Zhenzhen Z; Zhong, Jiuchang J; Geng, Bin B; Fan, Yuxin Y; Yang, Xinchun X; Cai, Jun J

Publication Date: 2020-08

Variant appearance in text: VHL: 499C>T; Arg167Trp

PubMed Link: 32561571

Variant Present in the following documents:

• Main text
• jmedgenet-2019-106145.pdf

View BVdb publication page

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A Comprehensive Analysis Identified the Key Differentially Expressed Circular Ribonucleic Acids and Methylation-Related Function in Pheochromocytomas and Paragangliomas.

Frontiers In Genetics

Yu, Anze A; Li, Minghao M; Xing, Changsheng C; Chen, Danlei D; Wang, Cikui C; Xiao, Qiao Q; Zhang, Liang L; Pang, Yingxian Y; Wang, Yong Y; Zu, Xiongbing X; Liu, Longfei L

Publication Date: 2020

Variant appearance in text: VHL: 499C>T; R167W

PubMed Link: 32161614

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

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: R167W

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: 499C>T; R167W

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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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: 499C>T; R167W

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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The Efficacy and Safety of Tyrosine Kinase Inhibitors for Von Hippel-Lindau Disease: A Retrospective Study of 32 Patients.

Frontiers In Oncology

Ma, Kaifang K; Hong, Baoan B; Zhou, Jingcheng J; Gong, Yanqing Y; Wang, Jiangyi J; Liu, Shengjie S; Peng, Xiang X; Zhou, Bowen B; Zhang, Jiufeng J; Xie, Haibiao H; Zhang, Kenan K; Li, Lei L; Cai, Desheng D; Wang, Zixin Z; Cai, Lin L; Gong, Kan K

Publication Date: 2019

Variant appearance in text: VHL: R167W

PubMed Link: 31737565

Variant Present in the following documents:

• Main text

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: Arg167Trp

PubMed Link: 31681791

Variant Present in the following documents:

• Data_Sheet_5.pdf

View BVdb publication page

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Pan-cancer whole-genome analyses of metastatic solid tumours.

Nature

Priestley, Peter P; Baber, Jonathan J; Lolkema, Martijn P MP; Steeghs, Neeltje N; de Bruijn, Ewart E; Shale, Charles C; Duyvesteyn, Korneel K; Haidari, Susan S; van Hoeck, Arne A; Onstenk, Wendy W; Roepman, Paul P; Voda, Mircea M; Bloemendal, Haiko J HJ; Tjan-Heijnen, Vivianne C G VCG; van Herpen, Carla M L CML; Labots, Mariette M; Witteveen, Petronella O PO; Smit, Egbert F EF; Sleijfer, Stefan S; Voest, Emile E EE; Cuppen, Edwin E

Publication Date: 2019-11

Variant appearance in text: VHL: Arg167Trp

PubMed Link: 31645765

Variant Present in the following documents:

• 41586_2019_1689_MOESM10_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: 499C>T; Arg167Trp

PubMed Link: 31620170

Variant Present in the following documents:

• Main text

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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: VHL: 499C>T; rs5030820

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1
• pgen.1008409.s003.xlsx, sheet 1

View BVdb publication page

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New Insights Into Pheochromocytoma Surveillance of Young Patients With VHL Missense Mutations.

Journal Of The Endocrine Society

Fagundes, Gustavo F C GFC; Petenuci, Janaina J; Lourenco, Delmar M DM; Trarbach, Ericka B EB; Pereira, Maria Adelaide A MAA; Correa D'Eur, Joya Emilie JE; Hoff, Ana O AO; Lerario, Antonio M AM; Zerbini, Maria Claudia N MCN; Siqueira, Sheila S; Yamauchi, Fernando F; Srougi, Victor V; Tanno, Fabio Y FY; Chambo, Jose Luis JL; Latronico, Ana Claudia AC; Mendonca, Berenice B BB; Fragoso, Maria Candida B V MCBV; Almeida, Madson Q MQ

Publication Date: 2019-09-01

Variant appearance in text: VHL: 499C>T; Arg167Trp

PubMed Link: 31528828

Variant Present in the following documents:

• Main text
• js.2019-00225.pdf

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REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports

Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D

Publication Date: 2019-09-04

Variant appearance in text: VHL: 499C>T; R167W

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Comparison of Pheochromocytoma-Specific Morbidity and Mortality Among Adults With Bilateral Pheochromocytomas Undergoing Total Adrenalectomy vs Cortical-Sparing Adrenalectomy.

Jama Network Open

Neumann, Hartmut P H HPH; Tsoy, Uliana U; Bancos, Irina I; Amodru, Vincent V; Walz, Martin K MK; Tirosh, Amit A; Kaur, Ravinder Jeet RJ; McKenzie, Travis T; Qi, Xiaoping X; Bandgar, Tushar T; Petrov, Roman R; Yukina, Marina Y MY; Roslyakova, Anna A; van der Horst-Schrivers, Anouk N A ANA; Berends, Annika M A AMA; Hoff, Ana O AO; Castroneves, Luciana Audi LA; Ferrara, Alfonso Massimiliano AM; Rizzati, Silvia S; Mian, Caterina C; Dvorakova, Sarka S; Hasse-Lazar, Kornelia K; Kvachenyuk, Andrey A; Peczkowska, Mariola M; Loli, Paola P; Erenler, Feyza F; Krauss, Tobias T; Almeida, Madson Q MQ; Liu, Longfei L; Zhu, Feizhou F; Recasens, Mònica M; Wohllk, Nelson N; Corssmit, Eleonora P M EPM; Shafigullina, Zulfiya Z; Calissendorff, Jan J; Grozinsky-Glasberg, Simona S; Kunavisarut, Tada T; Schalin-Jäntti, Camilla C; Castinetti, Frederic F; Vlcek, Petr P; Beltsevich, Dmitry D; Egorov, Viacheslav I VI; Schiavi, Francesca F; Links, Thera P TP; Lechan, Ronald M RM; Bausch, Birke B; Young, William F WF; Eng, Charis C; ,

Publication Date: 2019-08-02

Variant appearance in text: VHL: 499C>T; Arg167Trp

PubMed Link: 31397861

Variant Present in the following documents:

• jamanetwopen-2-e198898-s001.pdf

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The incidence of consecutive manifestations in Von Hippel-Lindau disease.

Familial Cancer

van der Horst-Schrivers, Anouk N A ANA; Sluiter, Wim J WJ; Kruizinga, Roeliene C RC; van Leeuwaarde, Rachel S RS; Giles, Rachel R; Olderode-Berends, Maran J W MJW; Links, Thera P TP

Publication Date: 2019-07

Variant appearance in text: VHL: 499C>T

PubMed Link: 31087189

Variant Present in the following documents:

• Main text
• 10689_2019_Article_131.pdf

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Genotype-phenotype relations of the von Hippel-Lindau tumor suppressor inferred from a large-scale analysis of disease mutations and interactors.

Plos Computational Biology

Minervini, Giovanni G; Quaglia, Federica F; Tabaro, Francesco F; Tosatto, Silvio C E SCE

Publication Date: 2019-04

Variant appearance in text: VHL: Arg167Trp

PubMed Link: 30943211

Variant Present in the following documents:

• Main text
• pcbi.1006478.pdf

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: VHL: 499C>T; Arg167Trp

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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Toward automation of germline variant curation in clinical cancer genetics.

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

Ravichandran, Vignesh V; Shameer, Zarina Z; Kemel, Yelena Y; Walsh, Michael M; Cadoo, Karen K; Lipkin, Steven S; Mandelker, Diana D; Zhang, Liying L; Stadler, Zsofia Z; Robson, Mark M; Offit, Kenneth K; Vijai, Joseph J

Publication Date: 2019-09

Variant appearance in text: VHL: 499C>T; Arg167Trp

PubMed Link: 30787465

Variant Present in the following documents:

• NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 7
• NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 6

View BVdb publication page

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Fibroblast growth factor receptor 3 (FGFR3) aberrations in muscle-invasive urothelial carcinoma.

Bmc Urology

Kim, Young Saing YS; Kim, Kyung K; Kwon, Ghee-Young GY; Lee, Su Jin SJ; Park, Se Hoon SH

Publication Date: 2018-07-31

Variant appearance in text: VHL: 499C>T; R167W

PubMed Link: 30064409

Variant Present in the following documents:

• 12894_2018_380_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Unsuspected Von Hippel-Lindau syndrome in acute-onset resistant hypertension.

Bmj Case Reports

Sivaskandarajah, Gavasker A GA; Arnason, Terra G TG

Publication Date: 2018-07-24

Variant appearance in text: VHL: R167W

PubMed Link: 30042107

Variant Present in the following documents:

• Main text

View BVdb publication page

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