Publications:

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Intraparenchymal cerebellar capillary hemangioma in a 32-year-old man: a case report.

Frontiers In Surgery

Wardhana, Dewa Putu Wisnu DPW; Awyono, Steven S; Lauren, Christopher C; Muhammad Rosyidi, Rohadi R; Saputra, Herman H

Publication Date: 2023

Variant appearance in text: VHL: Glu70Lys

PubMed Link: 37228758

Variant Present in the following documents:

• Main text
• fsurg-10-1141522.pdf

View BVdb publication page

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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: 208G>A; Glu70Lys

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: 208G>A; Glu70Lys

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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Von Hipple-Lindau disease complicated with central retinal vein occlusion: a case report.

Bmc Ophthalmology

Chen, Xingwang X; Wang, Mengyao M; Tang, Yuan Y; Xie, Bing B; Nie, Xiaomei X; Cai, Shanjun S

Publication Date: 2022-11-16

Variant appearance in text: VHL: E70K

PubMed Link: 36384467

Variant Present in the following documents:

• Main text
• 12886_2022_Article_2661.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: 208G>A; Glu70Lys

PubMed Link: 36324386

Variant Present in the following documents:

• Main text
• fneur-13-951054.pdf

View BVdb publication page

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Clinical and Genetic Characteristics of Retinal Capillary Hemangioblastoma in Korean Patients.

Korean Journal Of Ophthalmology : Kjo

Lee, Sang Ha SH; Park, Kyu Hyung KH; Woo, Se Joon SJ; Park, Sang Jun SJ; Joo, Kwangsic K

Publication Date: 2022-10-25

Variant appearance in text: VHL: 208G>A; Glu70Lys

PubMed Link: 36281577

Variant Present in the following documents:

• Main text
• kjo-2022-0079.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: E70K

PubMed Link: 35205407

Variant Present in the following documents:

• Main text
• genes-13-00362.pdf

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: E70K

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: Glu70Lys

PubMed Link: 34596579

Variant Present in the following documents:

• EC-21-0294.pdf

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: 208G>A; Glu70Lys

PubMed Link: 33397040

Variant Present in the following documents:

• Main text
• enm-2020-683.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: 208G>A; E70K

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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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: E70K

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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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: Glu70Lys

PubMed Link: 31620170

Variant Present in the following documents:

• Main text
• fgene-10-00867.pdf

View BVdb publication page

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Systematic analysis of the intersection of disease mutations with protein modifications.

Bmc Medical Genomics

Simpson, Claire M CM; Zhang, Bin B; Hornbeck, Peter V PV; Gnad, Florian F

Publication Date: 2019-07-25

Variant appearance in text: VHL: E70K

PubMed Link: 31345222

Variant Present in the following documents:

• 12920_2019_543_MOESM8_ESM.xlsx, sheet 2

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: 208G>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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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: Glu70Lys

PubMed Link: 30943211

Variant Present in the following documents:

• pcbi.1006478.s009.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: 208G>A; Glu70Lys

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Tarailo-Graovac, Maja M; Zhu, Jing Yun Alice JYA; Matthews, Allison A; van Karnebeek, Clara D M CDM; Wasserman, Wyeth W WW

Publication Date: 2017-12

Variant appearance in text: VHL: E70K; rs5030802

PubMed Link: 28471432

Variant Present in the following documents:

• gim201750x2.xlsx, sheet 3

View BVdb publication page

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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: Glu70Lys

PubMed Link: 27439424

Variant Present in the following documents:

• Main text
• 12881_2016_Article_306.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: E70K

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: E70K

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM2_ESM.xls, sheet 1
• 12859_2015_673_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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A Case of von Hippel-Lindau Disease with Colorectal Adenocarcinoma, Renal Cell Carcinoma and Hemangioblastomas.

Cancer Research And Treatment

Heo, Su Jin SJ; Lee, Choong-Kun CK; Hahn, Kyu Yeon KY; Kim, Gyuri G; Hur, Hyuk H; Choi, Sung Hoon SH; Han, Kyung Seok KS; Cho, Arthur A; Jung, Minkyu M

Publication Date: 2016-01

Variant appearance in text: VHL: 208G>A; Glu70Lys

PubMed Link: 25715769

Variant Present in the following documents:

• Main text
• crt-2014-299.pdf

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: E70K

PubMed Link: 24969085

Variant Present in the following documents:

• supp_ddu321_ddu321supp_table.xlsx, sheet 2

View BVdb publication page

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Improved detection of germline mutations in Korean VHL patients by multiple ligation-dependent probe amplification analysis.

Journal Of Korean Medical Science

Cho, Hyun-Jung HJ; Ki, Chang-Seok CS; Kim, Jong-Won JW

Publication Date: 2009-02

Variant appearance in text: VHL: 208G>A; Glu70Lys

PubMed Link: 19270817

Variant Present in the following documents:

• jkms-24-77.pdf

View BVdb publication page

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