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: 482G>A; Arg161Gln

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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PANCREATODUODENECTOMY IN PATIENT WITH VON HIPPEL-LINDAU DISEASE: A LITERATURE REVIEW.

Arquivos Brasileiros De Cirurgia Digestiva : Abcd = Brazilian Archives Of Digestive Surgery

Eulálio, José Marcus Raso JMR; Carvalho, Thales Penna TP; Brabo, Eloá Pereira EP; Araújo, Antonio Luis Eiras ALE; Eulálio, Adriana de Oliveira AO; Beirão, Felipe Nogueira FN; Manso, José Eduardo Ferreira JEF

Publication Date: 2022

Variant appearance in text: VHL: 482G>A; Arg161Gln

PubMed Link: 36449866

Variant Present in the following documents:

• Main text
• 0102-6720-abcd-35-e1697.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: R161Q

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: 482G>A; Arg161Gln

PubMed Link: 36324386

Variant Present in the following documents:

• Main text
• fneur-13-951054.pdf

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: 482G>A; Arg161Gln

PubMed Link: 35404956

Variant Present in the following documents:

• pcbi.1010013.s002.xlsx, sheet 4

View BVdb publication page

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The Role of VHL in the Development of von Hippel-Lindau Disease and Erythrocytosis.

Genes

Hudler, Petra P; Urbancic, Mojca M

Publication Date: 2022-02-17

Variant appearance in text: VHL: R161Q

PubMed Link: 35205407

Variant Present in the following documents:

• Main text
• genes-13-00362.pdf

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: 482G>A

PubMed Link: 35008334

Variant Present in the following documents:

• Main text
• cancers-14-00170.pdf

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: 482G>A

PubMed Link: 35008334

Variant Present in the following documents:

• Main text
• cancers-14-00170.pdf

View BVdb publication page

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Investigating the role of somatic sequencing platforms for phaeochromocytoma and paraganglioma in a large UK cohort.

Clinical Endocrinology

Winzeler, Bettina B; Tufton, Nicola N; S Lim, Eugenie E; Challis, Ben G BG; Park, Soo-Mi SM; Izatt, Louise L; Carroll, Paul V PV; Velusamy, Anand A; Hulse, Tony T; Whitelaw, Benjamin C BC; Martin, Ezequiel E; Rodger, Fay F; Maranian, Melanie M; Clark, Graeme R GR; A Akker, Scott S; Maher, Eamonn R ER; Casey, Ruth T RT

Publication Date: 2022-10

Variant appearance in text: VHL: 482G>A; Arg161Gln; rs730882035

PubMed Link: 34870338

Variant Present in the following documents:

• Main text
• CEN-97-448.pdf

View BVdb publication page

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Pheochromocytomas and paragangliomas in von Hippel-Lindau disease: not a needle in a haystack.

Endocrine Connections

Castro-Teles, João J; Sousa-Pinto, Bernardo B; Rebelo, Sandra S; Pignatelli, Duarte D

Publication Date: 2021-10-27

Variant appearance in text: VHL: R161Q

PubMed Link: 34596579

Variant Present in the following documents:

• EC-21-0294.pdf

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: 482G>A; R161Q

PubMed Link: 34439168

Variant Present in the following documents:

• Main text
• cancers-13-04014.pdf

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: R161Q

PubMed Link: 34113354

Variant Present in the following documents:

• Table_1.xlsx, sheet 22

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: R161Q

PubMed Link: 33875650

Variant Present in the following documents:

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

View BVdb publication page

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Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications

Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q

Publication Date: 2021-01-04

Variant appearance in text: VHL: 482G>A; R161Q

PubMed Link: 33397889

Variant Present in the following documents:

• 41467_2020_20162_MOESM6_ESM.xlsx, 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: 482G>A; Arg161Gln

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: 482G>A; R161Q

PubMed Link: 33362715

Variant Present in the following documents:

• Main text
• fendo-11-574662.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: R161Q

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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Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE.

Clinical Genetics

Seo, Go Hun GH; Kim, Taeho T; Choi, In Hee IH; Park, Jung-Young JY; Lee, Jungsul J; Kim, Sehwan S; Won, Dhong-Gun DG; Oh, Arum A; Lee, Yena Y; Choi, Jeongmin J; Lee, Hajeong H; Kang, Hee Gyung HG; Cho, Hee Yeon HY; Cho, Min Hyun MH; Kim, Yoon Jeon YJ; Yoon, Young Hee YH; Eun, Baik-Lin BL; Desnick, Robert J RJ; Keum, Changwon C; Lee, Beom Hee BH

Publication Date: 2020-12

Variant appearance in text: VHL: 482G>A; Arg161Gln

PubMed Link: 32901917

Variant Present in the following documents:

• CGE-98-562-s003.xlsx, sheet 2

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: 482G>A; R161Q

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: 482G>A; R161Q

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 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: 482G>A; Arg161Gln

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: 482G>A; R161Q

PubMed Link: 32161614

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Germline mutations in the new E1' cryptic exon of the VHL gene in patients with tumours of von Hippel-Lindau disease spectrum or with paraganglioma.

Journal Of Medical Genetics

Buffet, Alexandre A; Calsina, Bruna B; Flores, Shahida S; Giraud, Sophie S; Lenglet, Marion M; Romanet, Pauline P; Deflorenne, Elisa E; Aller, Javier J; Bourdeau, Isabelle I; Bressac-de Paillerets, Brigitte B; Calatayud, María M; Dehais, Caroline C; De Mones Del Pujol, Erwan E; Elenkova, Atanaska A; Herman, Philippe P; Kamenický, Peter P; Lejeune, Sophie S; Sadoul, Jean Louis JL; Barlier, Anne A; Richard, Stephane S; Favier, Judith J; Burnichon, Nelly N; Gardie, Betty B; Dahia, Patricia L PL; Robledo, Mercedes M; Gimenez-Roqueplo, Anne-Paule AP

Publication Date: 2020-11

Variant appearance in text: VHL: 482G>A; R161Q

PubMed Link: 31996412

Variant Present in the following documents:

• Main text
• jmedgenet-2019-106519.pdf

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: 482G>A; R161Q

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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Evaluating the cerebrospinal fluid ctDNA detection by next-generation sequencing in the diagnosis of meningeal Carcinomatosis.

Bmc Neurology

Zhao, Yue Y; He, Jun-Ying JY; Zou, Yue-Li YL; Guo, Xiao-Su XS; Cui, Jun-Zhao JZ; Guo, Li L; Bu, Hui H

Publication Date: 2019-12-19

Variant appearance in text: VHL: R161Q

PubMed Link: 31856745

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mutational profile and genotype/phenotype correlation of non-familial pheochromocytoma and paraganglioma.

Oncotarget

Albattal, Shatha S; Alswailem, Meshael M; Moria, Yosra Y; Al-Hindi, Hindi H; Dasouki, Majed M; Abouelhoda, Mohamed M; Alkhail, Hala Aba HA; Alsuhaibani, Entissar E; Alzahrani, Ali S AS

Publication Date: 2019-10-15

Variant appearance in text: VHL: 482G>A; R161Q

PubMed Link: 31666924

Variant Present in the following documents:

• Main text
• oncotarget-10-5919.pdf

View BVdb publication page

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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: 482G>A; R161Q

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: 482G>A; Arg161Gln

PubMed Link: 31397861

Variant Present in the following documents:

• jamanetwopen-2-e198898-s001.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: 482G>A; Arg161Gln

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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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: Arg161Gln

PubMed Link: 30943211

Variant Present in the following documents:

• Main text
• pcbi.1006478.pdf
• pcbi.1006478.s009.xlsx, sheet 1

View BVdb publication page

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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: 482G>A; Arg161Gln

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: 482G>A; Arg161Gln

PubMed Link: 30787465

Variant Present in the following documents:

• NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 6

View BVdb publication page

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Analysis on GENIE reveals novel recurrent variants that affect molecular diagnosis of sizable number of cancer patients.

Bmc Cancer

Koyama, Takahiko T; Rhrissorrakrai, Kahn K; Parida, Laxmi L

Publication Date: 2019-02-01

Variant appearance in text: VHL: 482G>A; R161Q

PubMed Link: 30709382

Variant Present in the following documents:

• 12885_2019_5313_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Recurrent loss of heterozygosity correlates with clinical outcome in pancreatic neuroendocrine cancer.

Npj Genomic Medicine

Lawrence, Ben B; Blenkiron, Cherie C; Parker, Kate K; Tsai, Peter P; Fitzgerald, Sandra S; Shields, Paula P; Robb, Tamsin T; Yeong, Mee Ling ML; Kramer, Nicole N; James, Sarah S; Black, Mik M; Fan, Vicky V; Poonawala, Nooriyah N; Yap, Patrick P; Coats, Esther E; Woodhouse, Braden B; Ramsaroop, Reena R; Yozu, Masato M; Robinson, Bridget B; Henare, Kimiora K; Koea, Jonathan J; Johnston, Peter P; Carroll, Richard R; Connor, Saxon S; Morrin, Helen H; Elston, Marianne M; Jackson, Christopher C; Reid, Papaarangi P; Windsor, John J; MacCormick, Andrew A; Babor, Richard R; Bartlett, Adam A; Damianovich, Dragan D; Knowlton, Nicholas N; Grimmond, Sean S; Findlay, Michael M; Print, Cristin C

Publication Date: 2018

Variant appearance in text: VHL: R161Q

PubMed Link: 30062048

Variant Present in the following documents:

• 41525_2018_58_MOESM2_ESM.xlsx, sheet 5

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: Arg161Gln

PubMed Link: 29871882

Variant Present in the following documents:

• Main text
• ec-7-870.pdf

View BVdb publication page

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A pediatric case of pheochromocytoma without apparent hypertension associated with von Hippel-Lindau disease.

Clinical Pediatric Endocrinology : Case Reports And Clinical Investigations : Official Journal Of The Japanese Society For Pediatric Endocrinology

Igaki, Junko J; Nishi, Akira A; Sato, Takeshi T; Hasegawa, Tomonobu T

Publication Date: 2018

Variant appearance in text: VHL: 482G>A; Arg161Gln

PubMed Link: 29662268

Variant Present in the following documents:

• Main text
• cpe-27-087.pdf

View BVdb publication page

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Two Childhood Pheochromocytoma Cases due to von Hippel-Lindau Disease, One Associated with Pancreatic Neuroendocrine Tumor: A Very Rare Manifestation

Journal Of Clinical Research In Pediatric Endocrinology

Dağdeviren Çakır, Aydilek A; Turan, Hande H; Aykut, Ayça A; Durmaz, Asude A; Ercan, Oya O; Evliyaoğlu, Olcay O

Publication Date: 2018-06-01

Variant appearance in text: VHL: 482G>A; Arg161Gln

PubMed Link: 29022557

Variant Present in the following documents:

• Main text
• JCRPE-10-179.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: rs730882035

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: 482G>A; Arg161Gln

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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VHL missense mutations in the p53 binding domain show different effects on p53 signaling and HIFα degradation in clear cell renal cell carcinoma.

Oncotarget

Razafinjatovo, Caroline Fanja CF; Stiehl, Daniel D; Deininger, Eva E; Rechsteiner, Markus M; Moch, Holger H; Schraml, Peter P

Publication Date: 2017-02-07

Variant appearance in text: VHL: Arg161Gln

PubMed Link: 28052007

Variant Present in the following documents:

• Main text
• oncotarget-08-10199.pdf

View BVdb publication page

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Clinical and molecular characteristics of East Asian patients with von Hippel-Lindau syndrome.

Chinese Journal Of Cancer

Wong, Meihua M; Chu, Ying-Hsia YH; Tan, Hwei Ling HL; Bessho, Hideharu H; Ngeow, Joanne J; Tang, Tiffany T; Tan, Min-Han MH

Publication Date: 2016-08-15

Variant appearance in text: VHL: Arg161Gln

PubMed Link: 27527340

Variant Present in the following documents:

• Main text
• 40880_2016_Article_141.pdf

View BVdb publication page

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Clinical significance of frequent somatic mutations detected by high-throughput targeted sequencing in archived colorectal cancer samples.

Journal Of Translational Medicine

Dallol, Ashraf A; Buhmeida, Abdelbaset A; Al-Ahwal, Mahmoud Shaheen MS; Al-Maghrabi, Jaudah J; Bajouh, Osama O; Al-Khayyat, Shadi S; Alam, Rania R; Abusanad, Atlal A; Turki, Rola R; Elaimi, Aisha A; Alhadrami, Hani A HA; Abuzenadah, Mohammed M; Banni, Huda H; Al-Qahtani, Mohammed H MH; Abuzenadah, Adel M AM

Publication Date: 2016-05-04

Variant appearance in text: VHL: Arg161Gln

PubMed Link: 27146902

Variant Present in the following documents:

• Main text
• 12967_2016_Article_878.pdf

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: R161Q

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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Bioinformatic Challenges in Clinical Diagnostic Application of Targeted Next Generation Sequencing: Experience from Pheochromocytoma.

Plos One

Crona, Joakim J; Ljungström, Viktor V; Welin, Staffan S; Walz, Martin K MK; Hellman, Per P; Björklund, Peyman P

Publication Date: 2015

Variant appearance in text: VHL: Arg161Gln

PubMed Link: 26230854

Variant Present in the following documents:

• Main text

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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: R161Q

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

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Clinical and genetic investigation of a multi-generational Chinese family afflicted with Von Hippel-Lindau disease.

Chinese Medical Journal

Zhang, Jingyao J; Ma, Jie J; Du, Xiaoyun X; Wu, Dapeng D; Ai, Hong H; Bai, Jigang J; Dong, Shunbin S; Yang, Qinling Q; Qu, Kai K; Lyu, Yi Y; Valenzuela, Robert K RK; Liu, Chang C

Publication Date: 2015-01-05

Variant appearance in text: VHL: R161Q

PubMed Link: 25563310

Variant Present in the following documents:

• CMJ-128-32.pdf

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Genetic evidence of a precisely tuned dysregulation in the hypoxia signaling pathway during oncogenesis.

Cancer Research

Couvé, Sophie S; Ladroue, Charline C; Laine, Elodie E; Mahtouk, Karène K; Guégan, Justine J; Gad, Sophie S; Le Jeune, Hélène H; Le Gentil, Marion M; Nuel, Gregory G; Kim, William Y WY; Lecomte, Bernard B; Pagès, Jean-Christophe JC; Collin, Christine C; Lasne, Françoise F; Benusiglio, Patrick R PR; Bressac-de Paillerets, Brigitte B; Feunteun, Jean J; Lazar, Vladimir V; Gimenez-Roqueplo, Anne-Paule AP; Mazure, Nathalie M NM; Dessen, Philippe P; Tchertanov, Luba L; Mole, David R DR; Kaelin, William W; Ratcliffe, Peter P; Richard, Stéphane S; Gardie, Betty B

Publication Date: 2014-11-15

Variant appearance in text: VHL: 482G>A; Arg161Gln

PubMed Link: 25371412

Variant Present in the following documents:

• Main text

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An integrated computational approach can classify VHL missense mutations according to risk of clear cell renal carcinoma.

Human Molecular Genetics

Gossage, Lucy L; Pires, Douglas E V DE; Olivera-Nappa, Álvaro Á; Asenjo, Juan J; Bycroft, Mark M; Blundell, Tom L TL; Eisen, Tim T

Publication Date: 2014-11-15

Variant appearance in text: VHL: R161Q

PubMed Link: 24969085

Variant Present in the following documents:

• Main text
• supp_ddu321_ddu321supp_table.xlsx, sheet 3

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Bilateral papillopathy as a presenting sign of pheochromocytoma associated with von Hippel-Lindau disease.

Clinical Ophthalmology (Auckland, N.Z.)

Shah, Veeral V; Zlotcavitch, Leonid L; Herro, Angela M AM; Dubovy, Sander R SR; Yehoshua, Zohar Z; Lam, Byron L BL

Publication Date: 2014

Variant appearance in text: VHL: 482G>A

PubMed Link: 24707167

Variant Present in the following documents:

• Main text

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