Publications:

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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: Arg161Gly

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: Arg161Gly

PubMed Link: 35008334

Variant Present in the following documents:

• Main text
• cancers-14-00170.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: 481C>G; R161G

PubMed Link: 33547292

Variant Present in the following documents:

• 41467_2021_21068_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Patient specific circulating tumor DNA fingerprints to monitor treatment response across multiple tumors.

Journal Of Translational Medicine

Li, Jiaping J; Jiang, Wei W; Wei, Jinwang J; Zhang, Jianwei J; Cai, Linbo L; Luo, Minjie M; Wang, Zhan Z; Sun, Wending W; Wang, Shengzhou S; Wang, Chen C; Dai, Chun C; Liu, Jun J; Wang, Guan G; Wang, Jiping J; Xu, Qiang Q; Deng, Yanhong Y

Publication Date: 2020-08-01

Variant appearance in text: VHL: 481C>G; R161G

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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Loss of maternal chromosome 11 is a signature event in SDHAF2, SDHD, and VHL-related paragangliomas, but less significant in SDHB-related paragangliomas.

Oncotarget

Hoekstra, Attje S AS; Hensen, Erik F EF; Jordanova, Ekaterina S ES; Korpershoek, Esther E; van der Horst-Schrivers, Anouk Na AN; Cornelisse, Cees C; Corssmit, Eleonora P M EP; Hes, Frederik J FJ; Jansen, Jeroen C JC; Kunst, Henricus P M HP; Timmers, Henri J L M HJ; Bateman, Adrian A; Eccles, Diana D; Bovée, Judith V M G JV; Devilee, Peter P; Bayley, Jean-Pierre JP

Publication Date: 2017-02-28

Variant appearance in text: VHL: 481C>G

PubMed Link: 28099933

Variant Present in the following documents:

• oncotarget-08-14525-s002.xls, sheet 1

View BVdb publication page

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

Plos Computational Biology

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

Publication Date: 2016-05

Variant appearance in text: VHL: R161G

PubMed Link: 27224906

Variant Present in the following documents:

• pcbi.1004962.s004.xlsx, sheet 1

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: R161G; rs5030818

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Inactivation of SDH and FH cause loss of 5hmC and increased H3K9me3 in paraganglioma/pheochromocytoma and smooth muscle tumors.

Oncotarget

Hoekstra, Attje S AS; de Graaff, Marieke A MA; Briaire-de Bruijn, Inge H IH; Ras, Cor C; Seifar, Reza Maleki RM; van Minderhout, Ivonne I; Cornelisse, Cees J CJ; Hogendoorn, Pancras C W PC; Breuning, Martijn H MH; Suijker, Johnny J; Korpershoek, Esther E; Kunst, Henricus P M HP; Frizzell, Norma N; Devilee, Peter P; Bayley, Jean-Pierre JP; Bovée, Judith V M G JV

Publication Date: 2015-11-17

Variant appearance in text: VHL: 481C>G

PubMed Link: 26472283

Variant Present in the following documents:

• oncotarget-06-38777-s002.xlsx, sheet 1

View BVdb publication page

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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: R161G; rs5030818

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

View BVdb publication page

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Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics

Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z

Publication Date: 2013

Variant appearance in text: VHL: R161G

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 1

View BVdb publication page

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