Publications:

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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: 233A>G; Asn78Ser

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: 233A>G; Asn78Ser

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: 233A>G; Asn78Ser; rs5030804

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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Central nervous system hemangioblastomas in von Hippel-Lindau disease: Total growth rate and risk of developing new lesions not associated with circulating VEGF levels.

Plos One

Sundblom, Jimmy J; Skare, Tor Persson TP; Holm, Olivia O; Welin, Staffan S; Braun, Madelene M; Nilsson, Pelle P; Enblad, Per P; Sjöström, Elisabet Ohlin EO; Smits, Anja A

Publication Date: 2022

Variant appearance in text: VHL: Asn78Ser

PubMed Link: 36441756

Variant Present in the following documents:

• Main text
• pone.0278166.pdf

View BVdb publication page

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Retinal hemangioblastoma in a patient with Von Hippel-Lindau disease: A case report and literature review.

Frontiers In Oncology

Huang, Yikeng Y; Hu, Weiwen W; Huang, Xionggao X

Publication Date: 2022

Variant appearance in text: VHL: 233A>G; Asn78Ser

PubMed Link: 36408156

Variant Present in the following documents:

• Main text
• fonc-12-963469.pdf

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: 233A>G; Asn78Ser

PubMed Link: 36324386

Variant Present in the following documents:

• Main text
• fneur-13-951054.pdf

View BVdb publication page

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Frequency of pathogenic germline variants in cancer susceptibility genes in 1336 renal cell carcinoma cases.

Human Molecular Genetics

Yngvadottir, Bryndis B; Andreou, Avgi A; Bassaganyas, Laia L; Larionov, Alexey A; Cornish, Alex J AJ; Chubb, Daniel D; Saunders, Charlie N CN; Smith, Philip S PS; Zhang, Huairen H; Cole, Yasemin Y; Research Consortium, Genomics England GE; Larkin, James J; Browning, Lisa L; Turajlic, Samra S; Litchfield, Kevin K; Houlston, Richard S RS; Maher, Eamonn R ER

Publication Date: 2022-08-25

Variant appearance in text: VHL: 233A>G; Asn78Ser; rs5030804

PubMed Link: 35441217

Variant Present in the following documents:

• Main text
• hmg_supplementary_tables_1_2_5_6_revised_ddac089.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: 233A>G; Asn78Ser

PubMed Link: 35404956

Variant Present in the following documents:

• pcbi.1010013.s002.xlsx, sheet 4

View BVdb publication page

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Targetable IDH1 mutation identified in a rare case of pancreatic serous cystadenocarcinoma but not a series of serous cystadenomas.

Journal Of Surgical Case Reports

Zhang, Yuxi Y; Hammonds, Autumn A; Tran-Harding, Karen K; Schaberg, Kurt B KB; Nair, Rashmi T RT; Wang, Chi C; Wu, Yuanyuan Y; Pandalai, Prakash K PK; Kolesar, Jill J; Kim, Joseph J; Cavnar, Michael J MJ

Publication Date: 2022-03

Variant appearance in text: VHL: N78S

PubMed Link: 35350224

Variant Present in the following documents:

• Main text
• rjac096.pdf

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: 233A>G; N78S

PubMed Link: 35205407

Variant Present in the following documents:

• genes-13-00362.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: N78S

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: N78S

PubMed Link: 35110537

Variant Present in the following documents:

• Main text
• 41419_2021_Article_4135.pdf

View BVdb publication page

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Characteristics of Clear Cell Papillary Renal Cell Carcinoma (ccpRCC).

International Journal Of Molecular Sciences

Rysz, Jacek J; Franczyk, Beata B; Ławiński, Janusz J; Gluba-Brzózka, Anna A

Publication Date: 2021-12-23

Variant appearance in text: VHL: N78S

PubMed Link: 35008576

Variant Present in the following documents:

• Main text

View BVdb publication page

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Characteristics of Clear Cell Papillary Renal Cell Carcinoma (ccpRCC).

International Journal Of Molecular Sciences

Rysz, Jacek J; Franczyk, Beata B; Ławiński, Janusz J; Gluba-Brzózka, Anna A

Publication Date: 2021-12-23

Variant appearance in text: VHL: N78S

PubMed Link: 35008576

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: 233A>G

PubMed Link: 34923986

Variant Present in the following documents:

• 12935_2021_Article_2386.pdf

View BVdb publication page

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Clinical characteristics and risk factors for survival in affected offspring of von Hippel-Lindau disease patients.

Journal Of Medical Genetics

Zhang, Kenan K; Qiu, Jianhui J; Yang, Wuping W; Ma, Kaifang K; Li, Lei L; Xie, Haibiao H; Xu, Yawei Y; Gong, Yanqing Y; Zhou, Jingcheng J; Cai, Lin L; Gong, Kan K

Publication Date: 2022-10

Variant appearance in text: VHL: 233A>G; Asn78Ser

PubMed Link: 34916234

Variant Present in the following documents:

• jmedgenet-2021-108216supp006.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: 233A>G; N78S; rs5030804

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: 233A>G; N78S; rs5030804

PubMed Link: 34818533

Variant Present in the following documents:

• NIHMS1761779-supplement-Table_S8.xlsx, sheet 1

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: N78S

PubMed Link: 34630336

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

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: N78S

PubMed Link: 34596579

Variant Present in the following documents:

• EC-21-0294.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: 233A>G; Asn78Ser

PubMed Link: 34036514

Variant Present in the following documents:

• Main text
• 12020_2021_Article_2752.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: 233A>G; N78S

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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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: 233A>G; N78S

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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The VHL/HIF Axis in the Development and Treatment of Pheochromocytoma/Paraganglioma.

Frontiers In Endocrinology

Peng, Song S; Zhang, Jun J; Tan, Xintao X; Huang, Yiqiang Y; Xu, Jing J; Silk, Natalie N; Zhang, Dianzheng D; Liu, Qiuli Q; Jiang, Jun J

Publication Date: 2020

Variant appearance in text: VHL: Asn78Ser

PubMed Link: 33329393

Variant Present in the following documents:

• Main text
• fendo-11-586857.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: N78S

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: N78S

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: 233A>G; Asn78Ser

PubMed Link: 32832622

Variant Present in the following documents:

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

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: 233A>G; N78S

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: 233A>G; N78S

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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Phase and context shape the function of composite oncogenic mutations.

Nature

Gorelick, Alexander N AN; Sánchez-Rivera, Francisco J FJ; Cai, Yanyan Y; Bielski, Craig M CM; Biederstedt, Evan E; Jonsson, Philip P; Richards, Allison L AL; Vasan, Neil N; Penson, Alexander V AV; Friedman, Noah D ND; Ho, Yu-Jui YJ; Baslan, Timour T; Bandlamudi, Chaitanya C; Scaltriti, Maurizio M; Schultz, Nikolaus N; Lowe, Scott W SW; Reznik, Ed E; Taylor, Barry S BS

Publication Date: 2020-06

Variant appearance in text: VHL: N78S

PubMed Link: 32461694

Variant Present in the following documents:

• NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2

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: N78S

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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Retinal haemangioblastomas in von Hippel-Lindau germline mutation carriers: progression, complications and treatment outcome.

Acta Ophthalmologica

Hajjaj, Anass A; van Overdam, Koen A KA; Oldenburg, Rogier A RA; Koopmans, Anna E AE; van den Ouweland, Ans M W AMW; de Klein, Annelies A; Kiliç, Emine E

Publication Date: 2020-01-30

Variant appearance in text: VHL: 233A>G

PubMed Link: 32003155

Variant Present in the following documents:

• Main text
• AOS-98-464.pdf
• AOS-98-464-s002.pdf

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: VHL: 233A>G; Asn78Ser; 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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Novel gene mutation in von Hippel-Lindau disease - a report of two cases.

Bmc Medical Genetics

Wang, Jitian J; Cao, Wenjie W; Wang, Zhaoxia Z; Zhu, Hong H

Publication Date: 2019-12-10

Variant appearance in text: VHL: Asn78Ser

PubMed Link: 31823746

Variant Present in the following documents:

• Main text
• 12881_2019_Article_930.pdf

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: 233A>G; Asn78Ser

PubMed Link: 31620170

Variant Present in the following documents:

• Main text

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: 233A>G; Asn78Ser

PubMed Link: 31528828

Variant Present in the following documents:

• Main text

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: 233A>G; N78S

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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Total proteome turbidity assay for tracking global protein aggregation in the natural cellular environment.

Journal Of Biological Methods

Shmueli, Merav D MD; Hizkiahou, Noa N; Peled, Sivan S; Gazit, Ehud E; Segal, Daniel D

Publication Date: 2017

Variant appearance in text: VHL: N78S

PubMed Link: 31453227

Variant Present in the following documents:

• Main text
• jbm-4-2-e69.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: 233A>G; Asn78Ser

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: Asn78Ser

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: 233A>G; Asn78Ser

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: 233A>G; Asn78Ser

PubMed Link: 30787465

Variant Present in the following documents:

• NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 6

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VHL-Mediated Regulation of CHCHD4 and Mitochondrial Function.

Frontiers In Oncology

Briston, Thomas T; Stephen, Jenna M JM; Thomas, Luke W LW; Esposito, Cinzia C; Chung, Yuen-Li YL; Syafruddin, Saiful E SE; Turmaine, Mark M; Maddalena, Lucas A LA; Greef, Basma B; Szabadkai, Gyorgy G; Maxwell, Patrick H PH; Vanharanta, Sakari S; Ashcroft, Margaret M

Publication Date: 2018

Variant appearance in text: VHL: N78S

PubMed Link: 30338240

Variant Present in the following documents:

• Main text
• fonc-08-00388.pdf
• Data_Sheet_1.pdf

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An integrated genomic analysis of anaplastic meningioma identifies prognostic molecular signatures.

Scientific Reports

Collord, Grace G; Tarpey, Patrick P; Kurbatova, Natalja N; Martincorena, Inigo I; Moran, Sebastian S; Castro, Manuel M; Nagy, Tibor T; Bignell, Graham G; Maura, Francesco F; Young, Matthew D MD; Berna, Jorge J; Tubio, Jose M C JMC; McMurran, Chris E CE; Young, Adam M H AMH; Sanders, Mathijs M; Noorani, Imran I; Price, Stephen J SJ; Watts, Colin C; Leipnitz, Elke E; Kirsch, Matthias M; Schackert, Gabriele G; Pearson, Danita D; Devadass, Abel A; Ram, Zvi Z; Collins, V Peter VP; Allinson, Kieren K; Jenkinson, Michael D MD; Zakaria, Rasheed R; Syed, Khaja K; Hanemann, C Oliver CO; Dunn, Jemma J; McDermott, Michael W MW; Kirollos, Ramez W RW; Vassiliou, George S GS; Esteller, Manel M; Behjati, Sam S; Brazma, Alvis A; Santarius, Thomas T; McDermott, Ultan U

Publication Date: 2018-09-10

Variant appearance in text: VHL: N78S

PubMed Link: 30202034

Variant Present in the following documents:

• 41598_2018_31659_MOESM2_ESM.xlsx, sheet 30

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In silico VHL Gene Mutation Analysis and Prognosis of Pancreatic Neuroendocrine Tumors in von Hippel-Lindau Disease.

The Journal Of Clinical Endocrinology And Metabolism

Tirosh, Amit A; El Lakis, Mustapha M; Green, Patience P; Nockel, Pavel P; Patel, Dhaval D; Nilubol, Naris N; Gara, Sudheer Kumar SK; Keutgen, Xavier M XM; Linehan, W Marston WM; Kebebew, Electron E

Publication Date: 2018-04-01

Variant appearance in text: VHL: N78S

PubMed Link: 29294023

Variant Present in the following documents:

• Main text

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Spatial distribution of disease-associated variants in three-dimensional structures of protein complexes.

Oncogenesis

Gress, A A; Ramensky, V V; Kalinina, O V OV

Publication Date: 2017-09-25

Variant appearance in text: VHL: Asn78Ser

PubMed Link: 28945216

Variant Present in the following documents:

• Main text
• oncsis201779a.pdf

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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

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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: 233A>G; Asn78Ser

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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The importance of regulatory ubiquitination in cancer and metastasis.

Cell Cycle (Georgetown, Tex.)

Gallo, L H LH; Ko, J J; Donoghue, D J DJ

Publication Date: 2017-04-03

Variant appearance in text: VHL: N78S

PubMed Link: 28166483

Variant Present in the following documents:

• Main text
• kccy-16-07-1288326.pdf

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Genotype-phenotype analysis of von Hippel-Lindau syndrome in Korean families: HIF-α binding site missense mutations elevate age-specific risk for CNS hemangioblastoma.

Bmc Medical Genetics

Lee, Jee-Soo JS; Lee, Ji-Hyun JH; Lee, Kyu Eun KE; Kim, Jung Hee JH; Hong, Joon Mo JM; Ra, Eun Kyung EK; Seo, Soo Hyun SH; Lee, Seung Jun SJ; Kim, Man Jin MJ; Park, Sung Sup SS; Seong, Moon-Woo MW

Publication Date: 2016-07-20

Variant appearance in text: VHL: Asn78Ser

PubMed Link: 27439424

Variant Present in the following documents:

• Main text

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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: 233A>G; N78S

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

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Patient-specific factors influence somatic variation patterns in von Hippel-Lindau disease renal tumours.

Nature Communications

Fei, Suzanne S SS; Mitchell, Asia D AD; Heskett, Michael B MB; Vocke, Cathy D CD; Ricketts, Christopher J CJ; Peto, Myron M; Wang, Nicholas J NJ; Sönmez, Kemal K; Linehan, W Marston WM; Spellman, Paul T PT

Publication Date: 2016-05-13

Variant appearance in text: VHL: Asn78Ser

PubMed Link: 27174753

Variant Present in the following documents:

• Main text
• ncomms11588.pdf

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Difference in CXCR4 expression between sporadic and VHL-related hemangioblastoma.

Familial Cancer

Kruizinga, Roeliene C RC; van Marion, Denise M S DM; den Dunnen, Wilfred F A WF; de Groot, Jan C JC; Hoving, Eelco W EW; Oosting, Sjoukje F SF; Timmer-Bosscha, Hetty H; Derks, Rosalie P H RP; Cornelissen, Chantal C; van der Luijt, Rob B RB; Links, Thera P TP; de Vries, Elisabeth G E EG; Walenkamp, Annemiek M E AM

Publication Date: 2016-10

Variant appearance in text: VHL: 233A>G; Asn78Ser

PubMed Link: 26920352

Variant Present in the following documents:

View BVdb publication page

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