Publications:

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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: rs204993

PubMed Link: 36991000

Variant Present in the following documents:

• 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3

View BVdb publication page

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Genetic evidence for association of NOTCH4 variant rs2071287 with schizophrenia susceptibility in the North Indian population.

Indian Journal Of Psychiatry

Priya, Indu I; Arora, Manu M; Singh, Hemender H; Sharma, Isar I; Mahajan, Ritu R; Kapoor, Nisha N

Publication Date: 2022

Variant appearance in text: rs204993

PubMed Link: 36714673

Variant Present in the following documents:

• Main text

View BVdb publication page

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Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: rs204993

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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Genotype imputation and polygenic score estimation in northwestern Russian population.

Plos One

Kolosov, Nikita N; Rezapova, Valeriia V; Rotar, Oxana O; Loboda, Alexander A; Freylikhman, Olga O; Melnik, Olesya O; Sergushichev, Alexey A; Stevens, Christine C; Voortman, Trudy T; Kostareva, Anna A; Konradi, Alexandra A; Daly, Mark J MJ; Artomov, Mykyta M

Publication Date: 2022

Variant appearance in text: rs204993

PubMed Link: 35763490

Variant Present in the following documents:

• pone.0269434.s001.pdf

View BVdb publication page

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Evaluating the Occurrence of Rare Variants in the Complement Factor H Gene in Patients With Early-Onset Drusen Maculopathy.

Jama Ophthalmology

de Breuk, Anita A; Heesterbeek, Thomas J TJ; Bakker, Bjorn B; Verzijden, Timo T; Lechanteur, Yara T E YTE; Klaver, Caroline C W CCW; den Hollander, Anneke I AI; Hoyng, Carel B CB

Publication Date: 2021-11-01

Variant appearance in text: rs204993

PubMed Link: 34647987

Variant Present in the following documents:

• jamaophthalmol-e214102-s001.pdf

View BVdb publication page

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Validation of Polymorphisms Associated with the Risk of Radiation-Induced Oesophagitis in an Independent Cohort of Non-Small-Cell Lung Cancer Patients.

Cancers

Aguado-Barrera, Miguel E ME; Martínez-Calvo, Laura L; Fernández-Tajes, Juan J; Calvo-Crespo, Patricia P; Taboada-Valladares, Begoña B; Lobato-Busto, Ramón R; Gómez-Caamaño, Antonio A; Vega, Ana A

Publication Date: 2021-03-22

Variant appearance in text: rs204993

PubMed Link: 33810047

Variant Present in the following documents:

• Main text
• cancers-13-01447-s001.pdf
• cancers-13-01447.pdf

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: rs204993

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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The complement system in age-related macular degeneration.

Cellular And Molecular Life Sciences : Cmls

Armento, Angela A; Ueffing, Marius M; Clark, Simon J SJ

Publication Date: 2021-05

Variant appearance in text: rs204993

PubMed Link: 33751148

Variant Present in the following documents:

• Main text
• 18_2021_Article_3796.pdf

View BVdb publication page

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Genomics of asthma, allergy and chronic rhinosinusitis: novel concepts and relevance in airway mucosa.

Clinical And Translational Allergy

Laulajainen-Hongisto, Anu A; Lyly, Annina A; Hanif, Tanzeela T; Dhaygude, Kishor K; Kankainen, Matti M; Renkonen, Risto R; Donner, Kati K; Mattila, Pirkko P; Jartti, Tuomas T; Bousquet, Jean J; Kauppi, Paula P; Toppila-Salmi, Sanna S

Publication Date: 2020

Variant appearance in text: rs204993

PubMed Link: 33133517

Variant Present in the following documents:

• Main text
• CLT2-10-45.pdf

View BVdb publication page

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A common variant of the NOTCH4 gene modulates functional connectivity of the occipital cortex and its relationship with schizotypal traits.

Bmc Psychiatry

Xie, Xiaohui X; Zu, Meidan M; Zhang, Long L; Bai, Tongjian T; Wei, Ling L; Huang, Wanling W; Ji, Gong-Jun GJ; Qiu, Bensheng B; Hu, Panpan P; Tian, Yanghua Y; Wang, Kai K

Publication Date: 2020-07-09

Variant appearance in text: rs204993

PubMed Link: 32646407

Variant Present in the following documents:

• Main text
• 12888_2020_Article_2773.pdf

View BVdb publication page

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Statistical driver genes as a means to uncover missing heritability for age-related macular degeneration.

Bmc Medical Genomics

Waksmunski, Andrea R AR; Grunin, Michelle M; Kinzy, Tyler G TG; Igo, Robert P RP; Haines, Jonathan L JL; Cooke Bailey, Jessica N JN

Publication Date: 2020-07-06

Variant appearance in text: rs204993

PubMed Link: 32631374

Variant Present in the following documents:

• Main text

View BVdb publication page

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PBX-WNT-P63-IRF6 pathway in nonsyndromic cleft lip and palate.

Birth Defects Research

Maili, Lorena L; Letra, Ariadne A; Silva, Renato R; Buchanan, Edward P EP; Mulliken, John B JB; Greives, Matthew R MR; Teichgraeber, John F JF; Blackwell, Steven J SJ; Ummer, Rohit R; Weber, Ryan R; Chiquet, Brett B; Blanton, Susan H SH; Hecht, Jacqueline T JT

Publication Date: 2020-02-01

Variant appearance in text: rs204993

PubMed Link: 31825181

Variant Present in the following documents:

• Main text

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: rs204993

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Association between RAGE variants and the susceptibility to atherosclerotic lesions in Chinese Han population.

Experimental And Therapeutic Medicine

Zhang, Xiaolin X; Cheng, Minghui M; Tong, Fangnian F; Su, Xue X

Publication Date: 2019-03

Variant appearance in text: rs204993

PubMed Link: 30783474

Variant Present in the following documents:

• Main text
• etm-17-03-2019.pdf

View BVdb publication page

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Identification of deleterious and regulatory genomic variations in known asthma loci.

Respiratory Research

Neville, Matthew D C MDC; Choi, Jihoon J; Lieberman, Jonathan J; Duan, Qing Ling QL

Publication Date: 2018-12-12

Variant appearance in text: rs204993

PubMed Link: 30541564

Variant Present in the following documents:

• Main text
• 12931_2018_Article_953.pdf

View BVdb publication page

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Fine-mapping of HLA class I and class II genes identified two independent novel variants associated with nasopharyngeal carcinoma susceptibility.

Cancer Medicine

Wang, Tong-Min TM; Zhou, Ting T; He, Yong-Qiao YQ; Xue, Wen-Qiong WQ; Zhang, Jiang-Bo JB; Zheng, Xiao-Hui XH; Li, Xi-Zhao XZ; Zhang, Shao-Dan SD; Zeng, Yi-Xin YX; Jia, Wei-Hua WH

Publication Date: 2018-12

Variant appearance in text: rs204993

PubMed Link: 30378292

Variant Present in the following documents:

• CAM4-7-6308-s006.xlsx, sheet 1

View BVdb publication page

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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: PBX2: 735-22T>C; rs204993

PubMed Link: 30319441

Variant Present in the following documents:

• Table_5.xlsx, sheet 1
• Table_6.xlsx, sheet 1

View BVdb publication page

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Genetic Mechanisms of Asthma and the Implications for Drug Repositioning.

Genes

Huo, Yue Y; Zhang, Hong-Yu HY

Publication Date: 2018-05-03

Variant appearance in text: rs204993

PubMed Link: 29751569

Variant Present in the following documents:

• Main text
• genes-09-00237.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: rs204993

PubMed Link: 28974776

Variant Present in the following documents:

• Main text
• 41598_2017_Article_12986.pdf

View BVdb publication page

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Alternate-locus aware variant calling in whole genome sequencing.

Genome Medicine

Jäger, Marten M; Schubach, Max M; Zemojtel, Tomasz T; Reinert, Knut K; Church, Deanna M DM; Robinson, Peter N PN

Publication Date: 2016-12-13

Variant appearance in text: rs204993

PubMed Link: 27964746

Variant Present in the following documents:

• 13073_2016_383_MOESM1_ESM.pdf

View BVdb publication page

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Transferability of genome-wide associated loci for asthma in African Americans.

The Journal Of Asthma : Official Journal Of The Association For The Care Of Asthma

Faruque, Mezbah U MU; Chen, Guanjie G; Doumatey, Ayo P AP; Zhou, Jie J; Huang, Hanxia H; Shriner, Daniel D; Adeyemo, Adebowale A AA; Rotimi, Charles N CN; Dunston, Georgia M GM

Publication Date: 2017-01-02

Variant appearance in text: rs204993

PubMed Link: 27177148

Variant Present in the following documents:

• Main text

View BVdb publication page

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Novel genetic risk factors for asthma in African American children: Precision Medicine and the SAGE II Study.

Immunogenetics

White, Marquitta J MJ; Risse-Adams, O O; Goddard, P P; Contreras, M G MG; Adams, J J; Hu, D D; Eng, C C; Oh, S S SS; Davis, A A; Meade, K K; Brigino-Buenaventura, E E; LeNoir, M A MA; Bibbins-Domingo, K K; Pino-Yanes, M M; Burchard, E G EG

Publication Date: 2016-07

Variant appearance in text: rs204993

PubMed Link: 27142222

Variant Present in the following documents:

• Main text

View BVdb publication page

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Multiallelic copy number variation in the complement component 4A (C4A) gene is associated with late-stage age-related macular degeneration (AMD).

Journal Of Neuroinflammation

Grassmann, Felix F; Cantsilieris, Stuart S; Schulz-Kuhnt, Anja-Sabrina AS; White, Stefan J SJ; Richardson, Andrea J AJ; Hewitt, Alex W AW; Vote, Brendan J BJ; Schmied, Denise D; Guymer, Robyn H RH; Weber, Bernhard H F BH; Baird, Paul N PN

Publication Date: 2016-04-18

Variant appearance in text: rs204993

PubMed Link: 27090374

Variant Present in the following documents:

• Main text
• 12974_2016_Article_548.pdf

View BVdb publication page

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Genetic analysis of advanced glycation end products in the DHS MIND study.

Gene

Adams, Jeremy N JN; Raffield, Laura M LM; Martelle, Susan E SE; Freedman, Barry I BI; Langefeld, Carl D CD; Carr, J Jeffrey JJ; Cox, Amanda J AJ; Bowden, Donald W DW

Publication Date: 2016-06-15

Variant appearance in text: rs204993

PubMed Link: 26915486

Variant Present in the following documents:

• Main text

View BVdb publication page

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Association of the NOTCH4 Gene Polymorphism rs204993 with Schizophrenia in the Chinese Han Population.

Biomed Research International

Zhang, Bao B; Fan, Qian Rui QR; Li, Wen Hao WH; Lu, Ning N; Fu, Dong Ke DK; Kang, Yan Jie YJ; Wang, Na N; Li, Teng T; Wen, Xiao Peng XP; Li, Da Xu DX

Publication Date: 2015

Variant appearance in text: rs204993

PubMed Link: 26605328

Variant Present in the following documents:

• Main text
• BMRI2015-408096.pdf

View BVdb publication page

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Meta-analysis identifies seven susceptibility loci involved in the atopic march.

Nature Communications

Marenholz, Ingo I; Esparza-Gordillo, Jorge J; Rüschendorf, Franz F; Bauerfeind, Anja A; Strachan, David P DP; Spycher, Ben D BD; Baurecht, Hansjörg H; Margaritte-Jeannin, Patricia P; Sääf, Annika A; Kerkhof, Marjan M; Ege, Markus M; Baltic, Svetlana S; Matheson, Melanie C MC; Li, Jin J; Michel, Sven S; Ang, Wei Q WQ; McArdle, Wendy W; Arnold, Andreas A; Homuth, Georg G; Demenais, Florence F; Bouzigon, Emmanuelle E; Söderhäll, Cilla C; Pershagen, Göran G; de Jongste, Johan C JC; Postma, Dirkje S DS; Braun-Fahrländer, Charlotte C; Horak, Elisabeth E; Ogorodova, Ludmila M LM; Puzyrev, Valery P VP; Bragina, Elena Yu EY; Hudson, Thomas J TJ; Morin, Charles C; Duffy, David L DL; Marks, Guy B GB; Robertson, Colin F CF; Montgomery, Grant W GW; Musk, Bill B; Thompson, Philip J PJ; Martin, Nicholas G NG; James, Alan A; Sleiman, Patrick P; Toskala, Elina E; Rodriguez, Elke E; Fölster-Holst, Regina R; Franke, Andre A; Lieb, Wolfgang W; Gieger, Christian C; Heinzmann, Andrea A; Rietschel, Ernst E; Keil, Thomas T; Cichon, Sven S; Nöthen, Markus M MM; Pennell, Craig E CE; Sly, Peter D PD; Schmidt, Carsten O CO; Matanovic, Anja A; Schneider, Valentin V; Heinig, Matthias M; Hübner, Norbert N; Holt, Patrick G PG; Lau, Susanne S; Kabesch, Michael M; Weidinger, Stefan S; Hakonarson, Hakon H; Ferreira, Manuel A R MAR; Laprise, Catherine C; Freidin, Maxim B MB; Genuneit, Jon J; Koppelman, Gerard H GH; Melén, Erik E; Dizier, Marie-Hélène MH; Henderson, A John AJ; Lee, Young Ae YA

Publication Date: 2015-11-06

Variant appearance in text: rs204993

PubMed Link: 26542096

Variant Present in the following documents:

• ncomms9804-s1.pdf

View BVdb publication page

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eQTL of bronchial epithelial cells and bronchial alveolar lavage deciphers GWAS-identified asthma genes.

Allergy

Li, X X; Hastie, A T AT; Hawkins, G A GA; Moore, W C WC; Ampleford, E J EJ; Milosevic, J J; Li, H H; Busse, W W WW; Erzurum, S C SC; Kaminski, N N; Wenzel, S E SE; Meyers, D A DA; Bleecker, E R ER

Publication Date: 2015-10

Variant appearance in text: rs204993

PubMed Link: 26119467

Variant Present in the following documents:

• Main text

View BVdb publication page

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Further evidence suggesting a role for variation in ARHGAP29 variants in nonsyndromic cleft lip/palate.

Birth Defects Research. Part A, Clinical And Molecular Teratology

Letra, Ariadne A; Maili, Lorena L; Mulliken, John B JB; Buchanan, Edward E; Blanton, Susan H SH; Hecht, Jacqueline T JT

Publication Date: 2014-09

Variant appearance in text: rs204993

PubMed Link: 25163644

Variant Present in the following documents:

• Main text

View BVdb publication page

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Inflammation-related genetic variants predict toxicity following definitive radiotherapy for lung cancer.

Clinical Pharmacology And Therapeutics

Pu, X X; Wang, L L; Chang, J Y JY; Hildebrandt, M A T MA; Ye, Y Y; Lu, C C; Skinner, H D HD; Niu, N N; Jenkins, G D GD; Komaki, R R; Minna, J D JD; Roth, J A JA; Weinshilboum, R M RM; Wu, X X

Publication Date: 2014-11

Variant appearance in text: rs204993

PubMed Link: 25054431

Variant Present in the following documents:

• Main text

View BVdb publication page

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GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region.

Genes And Immunity

Armstrong, D L DL; Zidovetzki, R R; Alarcón-Riquelme, M E ME; Tsao, B P BP; Criswell, L A LA; Kimberly, R P RP; Harley, J B JB; Sivils, K L KL; Vyse, T J TJ; Gaffney, P M PM; Langefeld, C D CD; Jacob, C O CO

Publication Date: 2014-09

Variant appearance in text: rs204993

PubMed Link: 24871463

Variant Present in the following documents:

• NIHMS583203-supplement-1.pdf

View BVdb publication page

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Asthma genetics and personalised medicine.

The Lancet. Respiratory Medicine

Meyers, Deborah A DA; Bleecker, Eugene R ER; Holloway, John W JW; Holgate, Stephen T ST

Publication Date: 2014-05

Variant appearance in text: rs204993

PubMed Link: 24794577

Variant Present in the following documents:

• Main text

View BVdb publication page

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Host genetics and immune control of HIV-1 infection: fine mapping for the extended human MHC region in an African cohort.

Genes And Immunity

Prentice, H A HA; Pajewski, N M NM; He, D D; Zhang, K K; Brown, E E EE; Kilembe, W W; Allen, S S; Hunter, E E; Kaslow, R A RA; Tang, J J

Publication Date: 2014

Variant appearance in text: rs204993

PubMed Link: 24784026

Variant Present in the following documents:

• NIHMS580846-supplement-1.xlsx, sheet 3
• NIHMS580846-supplement-1.xlsx, sheet 2

View BVdb publication page

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Genetic variants within the MHC region are associated with immune responsiveness to childhood vaccinations.

Vaccine

Yucesoy, Berran B; Talzhanov, Yerkebulan Y; Johnson, Victor J VJ; Wilson, Nevin W NW; Biagini, Raymond E RE; Wang, Wei W; Frye, Bonnie B; Weissman, David N DN; Germolec, Dori R DR; Luster, Michael I MI; Barmada, Michael M MM

Publication Date: 2013-11-04

Variant appearance in text: rs204993

PubMed Link: 24075919

Variant Present in the following documents:

• Main text

View BVdb publication page

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A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.

Nature Genetics

Hinds, David A DA; McMahon, George G; Kiefer, Amy K AK; Do, Chuong B CB; Eriksson, Nicholas N; Evans, David M DM; St Pourcain, Beate B; Ring, Susan M SM; Mountain, Joanna L JL; Francke, Uta U; Davey-Smith, George G; Timpson, Nicholas J NJ; Tung, Joyce Y JY

Publication Date: 2013-08

Variant appearance in text: rs204993

PubMed Link: 23817569

Variant Present in the following documents:

• NIHMS489582-supplement-1.pdf

View BVdb publication page

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Using eQTL weights to improve power for genome-wide association studies: a genetic study of childhood asthma.

Frontiers In Genetics

Li, Lin L; Kabesch, Michael M; Bouzigon, Emmanuelle E; Demenais, Florence F; Farrall, Martin M; Moffatt, Miriam F MF; Lin, Xihong X; Liang, Liming L

Publication Date: 2013

Variant appearance in text: rs204993

PubMed Link: 23755072

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic association of sequence variants near AGER/NOTCH4 and dementia.

Journal Of Alzheimer'S Disease : Jad

Bennet, Anna M AM; Reynolds, Chandra A CA; Eriksson, Ulrika K UK; Hong, Mun-Gwan MG; Blennow, Kaj K; Gatz, Margaret M; Alexeyenko, Andrey A; Pedersen, Nancy L NL; Prince, Jonathan A JA

Publication Date: 2011

Variant appearance in text: rs204993

PubMed Link: 21297263

Variant Present in the following documents:

• Main text

View BVdb publication page

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