Publications:

---

Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications

Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C

Publication Date: 2023-03-29

Variant appearance in text: rs2227902

PubMed Link: 36991000

Variant Present in the following documents:

• 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3

View BVdb publication page

---

Integrative single-cell analysis reveals transcriptional and epigenetic regulatory features of clear cell renal cell carcinoma.

Cancer Research

Yu, Zhenyuan Z; Lv, Yufang Y; Su, Cheng C; Lu, Wenhao W; Zhang, RuiRui R; Li, Jiaping J; Guo, Bingqian B; Yan, Haibiao H; Liu, Deyun D; Yang, Zhanbin Z; Mi, Hua H; Mo, Linjian L; Guo, Yi Y; Feng, Wenyu W; Xu, Haotian H; Peng, Wenyi W; Cheng, Jiwen J; Nan, Aruo A; Mo, Zengnan Z

Publication Date: 2023-01-06

Variant appearance in text: rs2227902

PubMed Link: 36607615

Variant Present in the following documents:

• can-22-2224_table_s8_suppst8.xlsx, sheet 7
• can-22-2224_table_s8_suppst8.xlsx, sheet 11
• can-22-2224_table_s8_suppst8.xlsx, sheet 13

View BVdb publication page

---

Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.

Frontiers In Oncology

Block, Timothy T; Zezulinski, Daniel D; Kaplan, David E DE; Lu, Jingqiao J; Zanine, Samantha S; Zhan, Tingting T; Doria, Cataldo C; Sayeed, Aejaz A

Publication Date: 2022

Variant appearance in text: rs2227902

PubMed Link: 36582804

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

---

Plasma repressor element 1-silencing transcription factor levels are decreased in patients with Alzheimer's disease.

Bmc Geriatrics

Wei, Mingqing M; Ni, Jingnian J; Shi, Jing J; Li, Ting T; Xu, Xiaoqing X; Li, Chenmeng C; Qin, Bin B; Fan, Dongsheng D; Xie, Hengge H; Wang, Zhong Z; Wang, Yongyan Y; Lu, Tao T; Tian, Jinzhou J

Publication Date: 2022-06-01

Variant appearance in text: rs2227902

PubMed Link: 35650520

Variant Present in the following documents:

• Main text
• 12877_2022_Article_3163.pdf

View BVdb publication page

---

Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics

Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F

Publication Date: 2021

Variant appearance in text: rs2227902

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

---

Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Plos One

Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S

Publication Date: 2021

Variant appearance in text: rs2227902

PubMed Link: 33770142

Variant Present in the following documents:

• pone.0249324.s003.xlsx, sheet 2

View BVdb publication page

---

Genetic variants and cognitive functions in patients with brain tumors.

Neuro-Oncology

Correa, Denise D DD; Satagopan, Jaya J; Martin, Axel A; Braun, Erica E; Kryza-Lacombe, Maria M; Cheung, Kenneth K; Sharma, Ajay A; Dimitriadoy, Sofia S; O'Connell, Kelli K; Leong, Siok S; Karimi, Sasan S; Lyo, John J; DeAngelis, Lisa M LM; Orlow, Irene I

Publication Date: 2019-10-09

Variant appearance in text: rs2227902

PubMed Link: 31123752

Variant Present in the following documents:

• Main text

View BVdb publication page

---

A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports

Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW

Publication Date: 2019-03-20

Variant appearance in text: rs2227902

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 9
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 11
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 13
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 10

View BVdb publication page

---

REST, a master regulator of neurogenesis, evolved under strong positive selection in humans and in non human primates.

Scientific Reports

Mozzi, Alessandra A; Guerini, Franca Rosa FR; Forni, Diego D; Costa, Andrea Saul AS; Nemni, Raffaello R; Baglio, Francesca F; Cabinio, Monia M; Riva, Stefania S; Pontremoli, Chiara C; Clerici, Mario M; Sironi, Manuela M; Cagliani, Rachele R

Publication Date: 2017-08-25

Variant appearance in text: rs2227902

PubMed Link: 28842657

Variant Present in the following documents:

• Main text
• 41598_2017_Article_10245.pdf

View BVdb publication page

---

WONOEP appraisal: Biomarkers of epilepsy-associated comorbidities.

Epilepsia

Ravizza, Teresa T; Onat, Filiz Y FY; Brooks-Kayal, Amy R AR; Depaulis, Antoine A; Galanopoulou, Aristea S AS; Mazarati, Andrey A; Numis, Adam L AL; Sankar, Raman R; Friedman, Alon A

Publication Date: 2017-03

Variant appearance in text: rs2227902

PubMed Link: 28035782

Variant Present in the following documents:

• Main text

View BVdb publication page

---

NRSF and BDNF polymorphisms as biomarkers of cognitive dysfunction in adults with newly diagnosed epilepsy.

Epilepsy & Behavior : E&B

Warburton, Alix A; Miyajima, Fabio F; Shazadi, Kanvel K; Crossley, Joanne J; Johnson, Michael R MR; Marson, Anthony G AG; Baker, Gus A GA; Quinn, John P JP; Sills, Graeme J GJ

Publication Date: 2016-01

Variant appearance in text: rs2227902

PubMed Link: 26708060

Variant Present in the following documents:

• Main text

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: rs2227902

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

---

Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.

Scientific Reports

Steinberg, Karyn Meltz KM; Yu, Bing B; Koboldt, Daniel C DC; Mardis, Elaine R ER; Pamphlett, Roger R

Publication Date: 2015-03-16

Variant appearance in text: rs2227902

PubMed Link: 25773295

Variant Present in the following documents:

• srep09124-s3.xls, sheet 1

View BVdb publication page

---

Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: rs2227902

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

---

NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One

Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y

Publication Date: 2014

Variant appearance in text: rs2227902

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, sheet 1

View BVdb publication page

---

Experiences with array-based sequence capture; toward clinical applications.

European Journal Of Human Genetics : Ejhg

Almomani, Rowida R; van der Heijden, Jaap J; Ariyurek, Yavuz Y; Lai, Yuching Y; Bakker, Egbert E; van Galen, Michiel M; Breuning, Martijn H MH; den Dunnen, Johan T JT

Publication Date: 2011-01

Variant appearance in text: rs2227902

PubMed Link: 21102627

Variant Present in the following documents:

View BVdb publication page

---