Publications:

---

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: 500G>T; Arg167Leu

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

---

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: 500G>T; Arg167Leu; rs5030821

PubMed Link: 36815791

Variant Present in the following documents:

• ccr-22-1936_supplementary_table_s2_suppts2.xlsx, sheet 1

View BVdb publication page

---

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: 500G>T; Arg167Leu

PubMed Link: 35404956

Variant Present in the following documents:

• pcbi.1010013.s002.xlsx, sheet 4

View BVdb publication page

---

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: R167L

PubMed Link: 33151962

Variant Present in the following documents:

• Main text
• pone.0234100.pdf

View BVdb publication page

---

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: 500G>T; R167L

PubMed Link: 32738923

Variant Present in the following documents:

• 12967_2020_2449_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

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: Arg167Leu

PubMed Link: 29294023

Variant Present in the following documents:

• Main text

View BVdb publication page

---

VHLdb: A database of von Hippel-Lindau protein interactors and mutations.

Scientific Reports

Tabaro, Francesco F; Minervini, Giovanni G; Sundus, Faiza F; Quaglia, Federica F; Leonardi, Emanuela E; Piovesan, Damiano D; Tosatto, Silvio C E SC

Publication Date: 2016-08-11

Variant appearance in text: VHL: Arg167Leu

PubMed Link: 27511743

Variant Present in the following documents:

• Main text
• srep31128.pdf

View BVdb publication page

---

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: R167L

PubMed Link: 27224906

Variant Present in the following documents:

• pcbi.1004962.s005.xlsx, sheet 1

View BVdb publication page

---