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: 277G>A; Gly93Ser

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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Hypoxia-inducible factor underlies von Hippel-Lindau disease stigmata.

Elife

Ohh, Michael M; Taber, Cassandra C CC; Ferens, Fraser G FG; Tarade, Daniel D

Publication Date: 2022-08-30

Variant appearance in text: VHL: G93S

PubMed Link: 36040300

Variant Present in the following documents:

• Main text
• elife-80774.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: 277G>A; Gly93Ser

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: 277G>A; Gly93Ser

PubMed Link: 35008334

Variant Present in the following documents:

• Main text
• cancers-14-00170.pdf

View BVdb publication page

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Germline Pathogenic Variants Identified by Targeted Next-Generation Sequencing of Susceptibility Genes in Pheochromocytoma and Paraganglioma.

Journal Of Kidney Cancer And Vhl

Yalcintepe, Sinem S; Gurkan, Hakan H; Korkmaz, Fatma Nur FN; Demir, Selma S; Atli, Engin E; Eker, Damla D; Guler, Hazal Sezginer HS; Zhuri, Drenusha D; Atli, Emine Ikbal EI; Salt, Semra Ayturk SA; Sahin, Mustafa M; Guldiken, Sibel S

Publication Date: 2021

Variant appearance in text: VHL: 277G>A; Gly93Ser; rs5030808

PubMed Link: 33777662

Variant Present in the following documents:

• Main text
• JKCVHL-8-019.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: 277G>A; G93S

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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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: 277G>A; Gly93Ser

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: 277G>A; Gly93Ser

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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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: 277G>A

PubMed Link: 31087189

Variant Present in the following documents:

• Main text
• 10689_2019_Article_131.pdf

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: 277G>A; Gly93Ser

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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: G93S; rs5030808

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.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: G93S; rs5030808

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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Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.

Acta Neuropathologica Communications

Shankar, Ganesh M GM; Taylor-Weiner, Amaro A; Lelic, Nina N; Jones, Robert T RT; Kim, James C JC; Francis, Joshua M JM; Abedalthagafi, Malak M; Borges, Lawrence F LF; Coumans, Jean-Valery JV; Curry, William T WT; Nahed, Brian V BV; Shin, John H JH; Paek, Sun Ha SH; Park, Sung-Hye SH; Stewart, Chip C; Lawrence, Michael S MS; Cibulskis, Kristian K; Thorner, Aaron R AR; Van Hummelen, Paul P; Stemmer-Rachamimov, Anat O AO; Batchelor, Tracy T TT; Carter, Scott L SL; Hoang, Mai P MP; Santagata, Sandro S; Louis, David N DN; Barker, Fred G FG; Meyerson, Matthew M; Getz, Gad G; Brastianos, Priscilla K PK; Cahill, Daniel P DP

Publication Date: 2014-12-24

Variant appearance in text: VHL: G93S

PubMed Link: 25589003

Variant Present in the following documents:

• 40478_2014_167_MOESM1_ESM.xlsx, sheet 4

View BVdb publication page

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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: G93S

PubMed Link: 24969085

Variant Present in the following documents:

• Main text
• ddu321.pdf
• supp_ddu321_ddu321supp_table.xlsx, sheet 2
• supp_ddu321_ddu321supp_table.xlsx, sheet 3

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: G93S

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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Predicting the functional impact of protein mutations: application to cancer genomics.

Nucleic Acids Research

Reva, Boris B; Antipin, Yevgeniy Y; Sander, Chris C

Publication Date: 2011-09-01

Variant appearance in text: VHL: G93S

PubMed Link: 21727090

Variant Present in the following documents:

• supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1

View BVdb publication page

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Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Nucleic Acids Research

Ryu, Gil-Mi GM; Song, Pamela P; Kim, Kyu-Won KW; Oh, Kyung-Soo KS; Park, Keun-Joon KJ; Kim, Jong Hun JH

Publication Date: 2009-03

Variant appearance in text: VHL: G93S; rs5030808

PubMed Link: 19139070

Variant Present in the following documents:

• gkn1008_nar-01723-s-2008-File009.xls, sheet 2

View BVdb publication page

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