Publications:

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Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications

Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA

Publication Date: 2023-04-03

Variant appearance in text: PDE11A: R202C

PubMed Link: 37012232

Variant Present in the following documents:

• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2

View BVdb publication page

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Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: PDE11A: Arg202Cys; rs77063376

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: PDE11A: 604C>T; Arg202Cys; rs77063376

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

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Stress-induced precocious aging in PD-patient iPSC-derived NSCs may underlie the pathophysiology of Parkinson's disease.

Cell Death & Disease

Zhu, Liang L; Sun, Chenxi C; Ren, Jie J; Wang, Guangming G; Ma, Rongjie R; Sun, Lixin L; Yang, Danjing D; Gao, Shane S; Ning, Ke K; Wang, Zhigang Z; Chen, Xu X; Chen, Shengdi S; Zhu, Hongwen H; Gao, Zhengliang Z; Xu, Jun J

Publication Date: 2019-02-04

Variant appearance in text: PDE11A: 604C>T; R202C; rs77063376

PubMed Link: 30718471

Variant Present in the following documents:

• 41419_2019_1313_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine

Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H

Publication Date: 2018-09

Variant appearance in text: PDE11A: 604C>T; R202C; rs77063376

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 2
• MGG3-6-739-s002.xlsx, sheet 3

View BVdb publication page

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Exome Sequencing Identifies Potentially Druggable Mutations in Nasopharyngeal Carcinoma.

Scientific Reports

Chow, Yock Ping YP; Tan, Lu Ping LP; Chai, San Jiun SJ; Abdul Aziz, Norazlin N; Choo, Siew Woh SW; Lim, Paul Vey Hong PV; Pathmanathan, Rajadurai R; Mohd Kornain, Noor Kaslina NK; Lum, Chee Lun CL; Pua, Kin Choo KC; Yap, Yoke Yeow YY; Tan, Tee Yong TY; Teo, Soo Hwang SH; Khoo, Alan Soo-Beng AS; Patel, Vyomesh V

Publication Date: 2017-03-03

Variant appearance in text: PDE11A: 604C>T; R202C

PubMed Link: 28256603

Variant Present in the following documents:

• srep42980-s2.xls, sheet 7

View BVdb publication page

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: PDE11A: 604C>T; R202C

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

View BVdb publication page

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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: PDE11A: R202C

PubMed Link: 27224906

Variant Present in the following documents:

• pcbi.1004962.s005.xlsx, sheet 1

View BVdb publication page

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Genomic differences between pure ductal carcinoma in situ and synchronous ductal carcinoma in situ with invasive breast cancer.

Oncotarget

Kim, Shinn Young SY; Jung, Seung-Hyun SH; Kim, Min Sung MS; Baek, In-Pyo IP; Lee, Sung Hak SH; Kim, Tae-Min TM; Chung, Yeun-Jun YJ; Lee, Sug Hyung SH

Publication Date: 2015-04-10

Variant appearance in text: PDE11A: R202C

PubMed Link: 25831047

Variant Present in the following documents:

• oncotarget-06-7597-s002.xlsx, sheet 1
• oncotarget-06-7597-s006.xlsx, sheet 1

View BVdb publication page

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Phosphodiesterase 11A (PDE11A) genetic variants may increase susceptibility to prostatic cancer.

The Journal Of Clinical Endocrinology And Metabolism

Faucz, Fabio Rueda FR; Horvath, Anelia A; Rothenbuhler, Anya A; Almeida, Madson Q MQ; Libé, Rossella R; Raffin-Sanson, Marie-Laure ML; Bertherat, Jerome J; Carraro, Dirce Maria DM; Soares, Fernando Augusto FA; Molina, Gustavo de Campos Gde C; Campos, Antonio H AH; Alexandre, Rodrigo B RB; Bendhack, Marcelo Luiz ML; Nesterova, Maria M; Stratakis, Constantine A CA

Publication Date: 2011-01

Variant appearance in text: PDE11A: R202C

PubMed Link: 20881257

Variant Present in the following documents:

• Main text

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