Publications:

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Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.

Npj Parkinson'S Disease

Cukier, Holly N HN; Kim, Hyunjin H; Griswold, Anthony J AJ; Codreanu, Simona G SG; Prince, Lisa M LM; Sherrod, Stacy D SD; McLean, John A JA; Dykxhoorn, Derek M DM; Ess, Kevin C KC; Hedera, Peter P; Bowman, Aaron B AB; Neely, M Diana MD

Publication Date: 2022-06-29

Variant appearance in text: IL10RA: A60A; rs4252249

PubMed Link: 35768426

Variant Present in the following documents:

• 41531_2022_346_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Cytokine pathway variants modulate platelet production: IFNA16 is a thrombocytosis susceptibility locus in humans.

Blood Advances

Gnatenko, Dmitri V DV; Liu, Zhaoyan Z; Hearing, Patrick P; Sohn, Sook-Young SY; Hu, Yetao Y; Falanga, Anna A; Wu, Song S; Malone, Lisa E LE; Zhu, Wei W; Bahou, Wadie F WF

Publication Date: 2022-08-23

Variant appearance in text: rs4252249

PubMed Link: 35381074

Variant Present in the following documents:

• Main text
• advancesADV2021005648.pdf

View BVdb publication page

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Neoadjuvant PD-1 Blockade Combined With Chemotherapy Followed by Concurrent Immunoradiotherapy in Locally Advanced Anal Canal Squamous Cell Carcinoma Patients: Antitumor Efficacy, Safety and Biomarker Analysis.

Frontiers In Immunology

Xiao, WeiWei W; Yuan, Yan Y; Wang, SuiHai S; Liao, Zhidong Z; Cai, PeiQiang P; Chen, BaoQing B; Zhang, Rong R; Wang, Fang F; Zeng, ZhiFan Z; Gao, YuanHong Y

Publication Date: 2021

Variant appearance in text: IL10RA: A60A

PubMed Link: 35095878

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Identification of Two Novel Candidate Genetic Variants Associated With the Responsiveness to Influenza Vaccination.

Frontiers In Immunology

Wen, Simin S; Wei, Hejiang H; Liao, Qijun Q; Li, Mao M; Zhong, Shuyi S; Cheng, Yanhui Y; Huang, Weijuan W; Wang, Dayan D; Shu, Yuelong Y

Publication Date: 2021

Variant appearance in text: rs4252249

PubMed Link: 34276655

Variant Present in the following documents:

• Main text
• fimmu-12-664024.pdf

View BVdb publication page

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PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology

Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S

Publication Date: 2019-10-22

Variant appearance in text: IL10RA: 180G>A; Ala60=; rs4252249

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: IL10RA: A60A; rs4252249

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Host Single Nucleotide Polymorphisms Modulating Influenza A Virus Disease in Humans.

Pathogens (Basel, Switzerland)

Nogales, Aitor A; L DeDiego, Marta M

Publication Date: 2019-09-30

Variant appearance in text: rs4252249

PubMed Link: 31574965

Variant Present in the following documents:

• Main text
• pathogens-08-00168.pdf

View BVdb publication page

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A pan-cancer analysis of synonymous mutations.

Nature Communications

Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S

Publication Date: 2019-06-12

Variant appearance in text: IL10RA: 180G>A

PubMed Link: 31189880

Variant Present in the following documents:

• 41467_2019_10489_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Association of IL-10 and IL-10RA single nucleotide polymorphisms with the responsiveness to HBV vaccination in Chinese infants of HBsAg(+)/HBeAg(-) mothers: a nested case-control study.

Bmj Open

Wen, Simin S; Wu, Yanhua Y; Pan, Yuchen Y; Cao, Mengzhuo M; Zhao, Dan D; Wang, Chong C; Wang, Chuan C; Kong, Fei F; Li, Jie J; Niu, Junqi J; Jiang, Jing J

Publication Date: 2018-11-28

Variant appearance in text: rs4252249

PubMed Link: 30498038

Variant Present in the following documents:

• Main text
• bmjopen-2018-022334.pdf
• bmjopen-2018-022334.draft_revisions.pdf

View BVdb publication page

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Hypomorphic function and somatic reversion of DOCK8 cause combined immunodeficiency without hyper-IgE.

Clinical Immunology (Orlando, Fla.)

Kienzler, Anne-Kathrin AK; van Schouwenburg, Pauline A PA; Taylor, John J; Marwah, Ishita I; Sharma, Richa U RU; Noakes, Charlotte C; Thomson, Kate K; Sadler, Ross R; Segal, Shelley S; Ferry, Berne B; Taylor, Jenny C JC; Blair, Edward E; Chapel, Helen H; Patel, Smita Y SY

Publication Date: 2016-02

Variant appearance in text: IL10RA: 180G>A; rs4252249

PubMed Link: 26680607

Variant Present in the following documents:

• mmc2.xlsx, sheet 4
• mmc2.xlsx, sheet 2

View BVdb publication page

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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: IL10RA: A60A; rs4252249

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis.

Plos One

Patiño, Liliana Catherine LC; Battu, Rajani R; Ortega-Recalde, Oscar O; Nallathambi, Jeyabalan J; Anandula, Venkata Ramana VR; Renukaradhya, Umashankar U; Laissue, Paul P

Publication Date: 2014

Variant appearance in text: N/A

PubMed Link: 25333361

Variant Present in the following documents:

View BVdb publication page

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Novel missense mutation in the NOD2 gene in a patient with early onset ulcerative colitis: causal or chance association?

International Journal Of Molecular Sciences

Girardelli, Martina M; Vuch, Josef J; Tommasini, Alberto A; Crovella, Sergio S; Bianco, Anna Monica AM

Publication Date: 2014-03-03

Variant appearance in text: IL10RA: 180G>A; A60A; rs4252249

PubMed Link: 24595243

Variant Present in the following documents:

• Main text
• ijms-15-03834.pdf

View BVdb publication page

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IL-10R polymorphisms are associated with very-early-onset ulcerative colitis.

Inflammatory Bowel Diseases

Moran, Christopher J CJ; Walters, Thomas D TD; Guo, Cong-Hui CH; Kugathasan, Subra S; Klein, Christoph C; Turner, Dan D; Wolters, Victorien M VM; Bandsma, Robert H RH; Mouzaki, Marialena M; Zachos, Mary M; Langer, Jacob C JC; Cutz, Ernest E; Benseler, Susanne M SM; Roifman, Chaim M CM; Silverberg, Mark S MS; Griffiths, Anne M AM; Snapper, Scott B SB; Muise, Aleixo M AM

Publication Date: 2013-01

Variant appearance in text: rs4252249

PubMed Link: 22550014

Variant Present in the following documents:

• Main text

View BVdb publication page

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Associations between single nucleotide polymorphisms and haplotypes in cytokine and cytokine receptor genes and immunity to measles vaccination.

Vaccine

Haralambieva, Iana H IH; Ovsyannikova, Inna G IG; Kennedy, Richard B RB; Vierkant, Robert A RA; Pankratz, V Shane VS; Jacobson, Robert M RM; Poland, Gregory A GA

Publication Date: 2011-10-19

Variant appearance in text: rs4252249

PubMed Link: 21875636

Variant Present in the following documents:

• Main text

View BVdb publication page

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Immunogenetics of seasonal influenza vaccine response.

Vaccine

Poland, Gregory A GA; Ovsyannikova, Inna G IG; Jacobson, Robert M RM

Publication Date: 2008-09-12

Variant appearance in text: rs4252249

PubMed Link: 19230157

Variant Present in the following documents:

• Main text

View BVdb publication page

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