Publications:

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: CD40LG: L50L; rs1126535

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM12_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM9_ESM.xlsx, sheet 2

View BVdb publication page

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Computational Functional Genomics-Based AmpliSeq™ Panel for Next-Generation Sequencing of Key Genes of Pain.

International Journal Of Molecular Sciences

Kringel, Dario D; Malkusch, Sebastian S; Kalso, Eija E; Lötsch, Jörn J

Publication Date: 2021-01-16

Variant appearance in text: rs1126535

PubMed Link: 33467215

Variant Present in the following documents:

• Main text
• ijms-22-00878.pdf

View BVdb publication page

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Study of Caspase 8 mutation in oral cancer and adjacent precancer tissues and implication in progression.

Plos One

Singh, Richa R; Das, Shreya S; Datta, Sila S; Mazumdar, Anjana A; Biswas, Nidhan K NK; Maitra, Arindam A; Majumder, Partha P PP; Ghose, Sandip S; Roy, Bidyut B

Publication Date: 2020

Variant appearance in text: CD40LG: L50L; rs1126535

PubMed Link: 32492030

Variant Present in the following documents:

• pone.0233058.s001.xlsx, sheet 27

View BVdb publication page

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Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders

Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M

Publication Date: 2020-02-11

Variant appearance in text: CD40LG: 148T>C; rs1126535

PubMed Link: 32046637

Variant Present in the following documents:

• 12872_2020_1369_MOESM1_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: CD40LG: L50L; rs1126535

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Precision medicine in adult and pediatric obesity: a clinical perspective.

Therapeutic Advances In Endocrinology And Metabolism

Bomberg, Eric M EM; Ryder, Justin R JR; Brundage, Richard C RC; Straka, Robert J RJ; Fox, Claudia K CK; Gross, Amy C AC; Oberle, Megan M MM; Bramante, Carolyn T CT; Sibley, Shalamar D SD; Kelly, Aaron S AS

Publication Date: 2019

Variant appearance in text: rs1126535

PubMed Link: 31384417

Variant Present in the following documents:

• Main text
• 10.1177_2042018819863022.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: CD40LG: 148T>C

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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Human candidate gene polymorphisms and risk of severe malaria in children in Kilifi, Kenya: a case-control association study.

The Lancet. Haematology

Ndila, Carolyne M CM; Uyoga, Sophie S; Macharia, Alexander W AW; Nyutu, Gideon G; Peshu, Norbert N; Ojal, John J; Shebe, Mohammed M; Awuondo, Kennedy O KO; Mturi, Neema N; Tsofa, Benjamin B; Sepúlveda, Nuno N; Clark, Taane G TG; Band, Gavin G; Clarke, Geraldine G; Rowlands, Kate K; Hubbart, Christina C; Jeffreys, Anna A; Kariuki, Silvia S; Marsh, Kevin K; Mackinnon, Margaret M; Maitland, Kathryn K; Kwiatkowski, Dominic P DP; Rockett, Kirk A KA; Williams, Thomas N TN; ,

Publication Date: 2018-08

Variant appearance in text: rs1126535

PubMed Link: 30033078

Variant Present in the following documents:

• main.pdf

View BVdb publication page

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Associations between SNPs and immune-related circulating proteins in schizophrenia.

Scientific Reports

Chan, Man K MK; Cooper, Jason D JD; Heilmann-Heimbach, Stefanie S; Frank, Josef J; Witt, Stephanie H SH; Nöthen, Markus M MM; Steiner, Johann J; Rietschel, Marcella M; Bahn, Sabine S

Publication Date: 2017-10-03

Variant appearance in text: rs1126535

PubMed Link: 28974776

Variant Present in the following documents:

• Main text
• 41598_2017_Article_12986.pdf

View BVdb publication page

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High Incidence of Malaria Along the Sino-Burmese Border Is Associated With Polymorphisms of CR1, IL-1A, IL-4R, IL-4, NOS, and TNF, But Not With G6PD Deficiency.

Medicine

Ren, Na N; Kuang, Ying-Min YM; Tang, Qiong-Lin QL; Cheng, Long L; Zhang, Chun-Hua CH; Yang, Zao-Qing ZQ; He, Yong-Shu YS; Zhu, Yue-Chun YC

Publication Date: 2015-10

Variant appearance in text: rs1126535

PubMed Link: 26448013

Variant Present in the following documents:

• Main text

View BVdb publication page

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Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget

Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S

Publication Date: 2015-06-20

Variant appearance in text: CD40LG: L50L; rs1126535

PubMed Link: 25944692

Variant Present in the following documents:

• oncotarget-06-15375-s005.xlsx, sheet 2

View BVdb publication page

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USP38, FREM3, SDC1, DDC, and LOC727982 Gene Polymorphisms and Differential Susceptibility to Severe Malaria in Tanzania.

The Journal Of Infectious Diseases

Manjurano, Alphaxard A; Sepúlveda, Nuno N; Nadjm, Behzad B; Mtove, George G; Wangai, Hannah H; Maxwell, Caroline C; Olomi, Raimos R; Reyburn, Hugh H; Drakeley, Christopher J CJ; Riley, Eleanor M EM; Clark, Taane G TG; ,

Publication Date: 2015-10-01

Variant appearance in text: rs1126535

PubMed Link: 25805752

Variant Present in the following documents:

• Main text
• jiv192.pdf

View BVdb publication page

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Are polymorphisms of the immunoregulatory factor CD40LG implicated in acute transfusion reactions?

Scientific Reports

Aloui, Chaker C; Sut, Caroline C; Prigent, Antoine A; Fagan, Jocelyne J; Cognasse, Fabrice F; Granados-Herbepin, Viviana V; Touraine, Renaud R; Pozzetto, Bruno B; Aouni, Mahjoub M; Fendri, Chedlia C; Hassine, Mohsen M; Chakroun, Tahar T; Jemni-Yacoub, Saloua S; Garraud, Olivier O; Laradi, Sandrine S

Publication Date: 2014-11-28

Variant appearance in text: rs1126535

PubMed Link: 25430087

Variant Present in the following documents:

• Main text
• srep07239.pdf

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: CD40LG: L50L; rs1126535

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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Diet and lifestyle factors modify immune/inflammation response genes to alter breast cancer risk and prognosis: the Breast Cancer Health Disparities Study.

Mutation Research

Slattery, Martha L ML; Lundgreen, Abbie A; Torres-Mejia, Gabriela G; Wolff, Roger K RK; Hines, Lisa L; Baumgartner, Kathy K; John, Esther M EM

Publication Date: 2014-12

Variant appearance in text: rs1126535

PubMed Link: 25332681

Variant Present in the following documents:

• Main text

View BVdb publication page

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Association of candidate gene polymorphisms and TGF-beta/IL-10 levels with malaria in three regions of Cameroon: a case-control study.

Malaria Journal

Apinjoh, Tobias O TO; Anchang-Kimbi, Judith K JK; Njua-Yafi, Clarisse C; Ngwai, André N AN; Mugri, Regina N RN; Clark, Taane G TG; Rockett, Kirk A KA; Kwiatkowski, Dominic P DP; Achidi, Eric A EA; ,

Publication Date: 2014-06-16

Variant appearance in text: rs1126535

PubMed Link: 24934404

Variant Present in the following documents:

• Main text
• 1475-2875-13-236.pdf

View BVdb publication page

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The genetic risk of acute seizures in African children with falciparum malaria.

Epilepsia

Kariuki, Symon M SM; Rockett, Kirk K; Clark, Taane G TG; Reyburn, Hugh H; Agbenyega, Tsiri T; Taylor, Terrie E TE; Birbeck, Gretchen L GL; Williams, Thomas N TN; Newton, Charles R J C CR

Publication Date: 2013-06

Variant appearance in text: rs1126535

PubMed Link: 23614351

Variant Present in the following documents:

• Main text

View BVdb publication page

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Candidate human genetic polymorphisms and severe malaria in a Tanzanian population.

Plos One

Manjurano, Alphaxard A; Clark, Taane G TG; Nadjm, Behzad B; Mtove, George G; Wangai, Hannah H; Sepulveda, Nuno N; Campino, Susana G SG; Maxwell, Caroline C; Olomi, Raimos R; Rockett, Kirk R KR; Jeffreys, Anna A; , ; Riley, Eleanor M EM; Reyburn, Hugh H; Drakeley, Christopher C

Publication Date: 2012

Variant appearance in text: rs1126535

PubMed Link: 23144702

Variant Present in the following documents:

• Main text
• pone.0047463.pdf

View BVdb publication page

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Candidate polymorphisms and severe malaria in a Malian population.

Plos One

Toure, Ousmane O; Konate, Salimata S; Sissoko, Sibiri S; Niangaly, Amadou A; Barry, Abdoulaye A; Sall, Abdourahmane H AH; Diarra, Elisabeth E; Poudiougou, Belco B; Sepulveda, Nuno N; Campino, Susana S; Rockett, Kirk A KA; Clark, Taane G TG; Thera, Mahamadou A MA; Doumbo, Ogobara O; ,

Publication Date: 2012

Variant appearance in text: rs1126535

PubMed Link: 22957039

Variant Present in the following documents:

• Main text

View BVdb publication page

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Immunoglobulin M levels inversely correlate with CD40 ligand promoter methylation in patients with primary biliary cirrhosis.

Hepatology (Baltimore, Md.)

Lleo, Ana A; Liao, Jieyue J; Invernizzi, Pietro P; Zhao, Ming M; Bernuzzi, Francesca F; Ma, Le L; Lanzi, Gaetana G; Ansari, Aftab A AA; Coppel, Ross L RL; Zhang, Peng P; Li, Yijun Y; Zhou, Zhiguang Z; Lu, Qianjin Q; Gershwin, M Eric ME

Publication Date: 2012-01

Variant appearance in text: rs1126535

PubMed Link: 21898485

Variant Present in the following documents:

• Main text

View BVdb publication page

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Host candidate gene polymorphisms and clearance of drug-resistant Plasmodium falciparum parasites.

Malaria Journal

Diakite, Mahamadou M; Achidi, Eric A EA; Achonduh, Olivia O; Craik, Rachel R; Djimde, Abdoulaye A AA; Evehe, Marie-Solange B MS; Green, Angie A; Hubbart, Christina C; Ibrahim, Muntasir M; Jeffreys, Anna A; Khan, Baldip K BK; Kimani, Francis F; Kwiatkowski, Dominic P DP; Mbacham, Wilfred F WF; Jezan, Sabah Omar SO; Ouedraogo, Jean Bosco JB; Rockett, Kirk K; Rowlands, Kate K; Tagelsir, Nawal N; Tekete, Mamadou M MM; Zongo, Issaka I; Ranford-Cartwright, Lisa C LC

Publication Date: 2011-08-25

Variant appearance in text: rs1126535

PubMed Link: 21867552

Variant Present in the following documents:

• Main text

View BVdb publication page

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NMD and microRNA expression profiling of the HPCX1 locus reveal MAGEC1 as a candidate prostate cancer predisposition gene.

Bmc Cancer

Mattila, Henna H; Schindler, Martin M; Isotalo, Jarkko J; Ikonen, Tarja T; Vihinen, Mauno M; Oja, Hannu H; Tammela, Teuvo L J TL; Wahlfors, Tiina T; Schleutker, Johanna J

Publication Date: 2011-08-02

Variant appearance in text: CD40LG: 148T>C; rs1126535

PubMed Link: 21810217

Variant Present in the following documents:

• Main text
• 1471-2407-11-327.pdf

View BVdb publication page

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Candidate malaria susceptibility/protective SNPs in hospital and population-based studies: the effect of sub-structuring.

Malaria Journal

Eid, Nahid A NA; Hussein, Aymen A AA; Elzein, Abier M AM; Mohamed, Hiba S HS; Rockett, Kirk A KA; Kwiatkowski, Dominic P DP; Ibrahim, Muntaser E ME

Publication Date: 2010-05-08

Variant appearance in text: rs1126535

PubMed Link: 20459687

Variant Present in the following documents:

• Main text
• 1475-2875-9-119.pdf

View BVdb publication page

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