Publications:

---

Detection of von Hippel-Lindau gene mutation in circulating cell-free DNA for clear cell renal cell carcinoma.

Cancer Science

Sumiyoshi, Takayuki T; Yamasaki, Toshinari T; Takeda, Masashi M; Mizuno, Kei K; Utsunomiya, Noriaki N; Sakamoto, Hiromasa H; Nakamura, Eijiro E; Ogawa, Osamu O; Akamatsu, Shusuke S

Publication Date: 2021-08

Variant appearance in text: VHL: N78T

PubMed Link: 34009695

Variant Present in the following documents:

• CAS-112-3363-s003.xlsx, sheet 1

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: N78T

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: 233A>C; N78T

PubMed Link: 32738923

Variant Present in the following documents:

• 12967_2020_2449_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

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: rs5030804

PubMed Link: 31959902

Variant Present in the following documents:

• 41598_2020_57534_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page

---

Resectable lung lesions malignancy assessment and cancer detection by ultra-deep sequencing of targeted gene mutations in plasma cell-free DNA.

Journal Of Medical Genetics

Peng, Muyun M; Xie, Yuancai Y; Li, Xiaohua X; Qian, Youhui Y; Tu, Xiaonian X; Yao, Xumei X; Cheng, Fangsheng F; Xu, Feiyue F; Kong, Deju D; He, Bing B; Liu, Chaoyu C; Cao, Fengjun F; Yang, Haoxian H; Yu, Fenglei F; Xu, Chuanbo C; Tian, Geng G

Publication Date: 2019-10

Variant appearance in text: VHL: 233A>C; Asn78Thr

PubMed Link: 30981987

Variant Present in the following documents:

• jmedgenet-2018-105825supp002.xlsx, sheet 3

View BVdb publication page

---

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

View BVdb publication page

---

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: N78T; rs5030804

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

---

Patient-derived cell models as preclinical tools for genome-directed targeted therapy.

Oncotarget

Lee, Ji Yun JY; Kim, Sun Young SY; Park, Charny C; Kim, Nayoung K D NK; Jang, Jiryeon J; Park, Kyunghee K; Yi, Jun Ho JH; Hong, Mineui M; Ahn, Taejin T; Rath, Oliver O; Schueler, Julia J; Kim, Seung Tae ST; Do, In-Gu IG; Lee, Sujin S; Park, Se Hoon SH; Ji, Yong Ick YI; Kim, Dukwhan D; Park, Joon Oh JO; Park, Young Suk YS; Kang, Won Ki WK; Kim, Kyoung-Mee KM; Park, Woong-Yang WY; Lim, Ho Yeong HY; Lee, Jeeyun J

Publication Date: 2015-09-22

Variant appearance in text: rs5030804

PubMed Link: 26296973

Variant Present in the following documents:

• oncotarget-06-25619-s004.xlsx, sheet 1

View BVdb publication page

---

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: N78T

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

---

Clinical and genetic investigation of a multi-generational Chinese family afflicted with Von Hippel-Lindau disease.

Chinese Medical Journal

Zhang, Jingyao J; Ma, Jie J; Du, Xiaoyun X; Wu, Dapeng D; Ai, Hong H; Bai, Jigang J; Dong, Shunbin S; Yang, Qinling Q; Qu, Kai K; Lyu, Yi Y; Valenzuela, Robert K RK; Liu, Chang C

Publication Date: 2015-01-05

Variant appearance in text: VHL: N78T

PubMed Link: 25563310

Variant Present in the following documents:

• CMJ-128-32.pdf

View BVdb publication page

---

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: N78T

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 1

View BVdb publication page

---

Three novel germ-line VHL mutations in Hungarian von Hippel-Lindau patients, including a nonsense mutation in a fifteen-year-old boy with renal cell carcinoma.

Bmc Medical Genetics

Losonczy, Gergely G; Fazakas, Ferenc F; Pfliegler, György G; Komáromi, István I; Balázs, Erzsébet E; Pénzes, Krisztina K; Berta, András A

Publication Date: 2013-01-08

Variant appearance in text: VHL: N78T

PubMed Link: 23298237

Variant Present in the following documents:

• Main text
• 1471-2350-14-3.pdf

View BVdb publication page

---

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: N78T

PubMed Link: 21727090

Variant Present in the following documents:

• supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1

View BVdb publication page

---