Publications:

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Genome-Wide Pleiotropy Study Identifies Association of PDGFB with Age-Related Macular Degeneration and COVID-19 Infection Outcomes.

Journal Of Clinical Medicine

Chung, Jaeyoon J; Vig, Viha V; Sun, Xinyu X; Han, Xudong X; O'Connor, George T GT; Chen, Xuejing X; DeAngelis, Margaret M MM; Farrer, Lindsay A LA; Subramanian, Manju L ML

Publication Date: 2022-12-23

Variant appearance in text: rs429608

PubMed Link: 36614910

Variant Present in the following documents:

• Main text
• jcm-12-00109.pdf

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: rs429608

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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Gene co-expression analyses of health(span) across multiple species.

Nar Genomics And Bioinformatics

Möller, Steffen S; Saul, Nadine N; Projahn, Elias E; Barrantes, Israel I; Gézsi, András A; Walter, Michael M; Antal, Péter P; Fuellen, Georg G

Publication Date: 2022-12

Variant appearance in text: rs429608

PubMed Link: 36458022

Variant Present in the following documents:

• lqac083.pdf

View BVdb publication page

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Genetic Risk in Families with Age-Related Macular Degeneration.

Ophthalmology Science

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

Publication Date: 2021-12

Variant appearance in text: rs429608

PubMed Link: 36246952

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Molecular Genetic Mechanisms in Age-Related Macular Degeneration.

Genes

Shughoury, Aumer A; Sevgi, Duriye Damla DD; Ciulla, Thomas A TA

Publication Date: 2022-07-12

Variant appearance in text: rs429608

PubMed Link: 35886016

Variant Present in the following documents:

• Main text
• genes-13-01233.pdf

View BVdb publication page

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Semi-Quantitative Multiplex Profiling of the Complement System Identifies Associations of Complement Proteins with Genetic Variants and Metabolites in Age-Related Macular Degeneration.

Journal Of Personalized Medicine

Acar, I Erkin IE; Willems, Esther E; Kersten, Eveline E; Keizer-Garritsen, Jenneke J; Kragt, Else E; Bakker, Bjorn B; Galesloot, Tessel E TE; Hoyng, Carel B CB; Fauser, Sascha S; van Gool, Alain J AJ; Lechanteur, Yara T E YTE; Koertvely, Elod E; Nogoceke, Everson E; Gloerich, Jolein J; de Jonge, Marien I MI; Lorés-Motta, Laura L; den Hollander, Anneke I AI

Publication Date: 2021-11-25

Variant appearance in text: rs429608

PubMed Link: 34945728

Variant Present in the following documents:

• Main text
• jpm-11-01256.pdf

View BVdb publication page

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Semi-Quantitative Multiplex Profiling of the Complement System Identifies Associations of Complement Proteins with Genetic Variants and Metabolites in Age-Related Macular Degeneration.

Journal Of Personalized Medicine

Acar, I Erkin IE; Willems, Esther E; Kersten, Eveline E; Keizer-Garritsen, Jenneke J; Kragt, Else E; Bakker, Bjorn B; Galesloot, Tessel E TE; Hoyng, Carel B CB; Fauser, Sascha S; van Gool, Alain J AJ; Lechanteur, Yara T E YTE; Koertvely, Elod E; Nogoceke, Everson E; Gloerich, Jolein J; de Jonge, Marien I MI; Lorés-Motta, Laura L; den Hollander, Anneke I AI

Publication Date: 2021-11-25

Variant appearance in text: rs429608

PubMed Link: 34945728

Variant Present in the following documents:

• Main text
• jpm-11-01256.pdf

View BVdb publication page

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Macular thickness varies with age-related macular degeneration genetic risk variants in the UK Biobank cohort.

Scientific Reports

Kaye, Rebecca A RA; Patasova, Karina K; Patel, Praveen J PJ; Hysi, Pirro P; Lotery, Andrew J AJ; ,

Publication Date: 2021-12-01

Variant appearance in text: rs429608

PubMed Link: 34853365

Variant Present in the following documents:

• Main text
• 41598_2021_Article_2631.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: rs429608

PubMed Link: 34647987

Variant Present in the following documents:

• jamaophthalmol-e214102-s001.pdf

View BVdb publication page

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Systemic complement levels in patients with age-related macular degeneration carrying rare or low-frequency variants in the CFH gene.

Human Molecular Genetics

de Jong, Sarah S; de Breuk, Anita A; Volokhina, Elena B EB; Bakker, Bjorn B; Garanto, Alejandro A; Fauser, Sascha S; Katti, Suresh S; Hoyng, Carel B CB; Lechanteur, Yara T E YTE; van den Heuvel, Lambert P LP; den Hollander, Anneke I AI

Publication Date: 2022-02-03

Variant appearance in text: rs429608

PubMed Link: 34508573

Variant Present in the following documents:

• Main text
• ddab256.pdf

View BVdb publication page

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Systemic complement levels in patients with age-related macular degeneration carrying rare or low frequency variants in the CFH gene.

Human Molecular Genetics

de Jong, Sarah S; de Breuk, Anita A; Volokhina, Elena B EB; Bakker, Bjorn B; Garanto, Alejandro A; Fauser, Sascha S; Katti, Suresh S; Hoyng, Carel B CB; Lechanteur, Yara T E YTE; van den Heuvel, Lambert P LP; den Hollander, Anneke I AI

Publication Date: 2021-09-11

Variant appearance in text: rs429608

PubMed Link: 34508573

Variant Present in the following documents:

• Main text
• ddab256.pdf

View BVdb publication page

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Prevalence and phenotype associations of complement factor I mutations in geographic atrophy.

Human Mutation

Khan, Adnan H AH; Sutton, Janice J; Cree, Angela J AJ; Khandhadia, Samir S; De Salvo, Gabriella G; Tobin, John J; Prakash, Priya P; Arora, Rashi R; Amoaku, Winfried W; Charbel Issa, Peter P; MacLaren, Robert E RE; Bishop, Paul N PN; Peto, Tunde T; Mohamed, Quresh Q; Steel, David H DH; Sivaprasad, Sobha S; Bailey, Clare C; Menon, Geeta G; Kavanagh, David D; Lotery, Andrew J AJ

Publication Date: 2021-09

Variant appearance in text: rs429608

PubMed Link: 34153144

Variant Present in the following documents:

• Main text
• HUMU-42-1139-s001.pdf
• HUMU-42-1139.pdf

View BVdb publication page

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Steroid 21-hydroxylase gene variants and late-life depression.

Bmc Research Notes

Ancelin, Marie-Laure ML; Norton, Joanna J; Ritchie, Karen K; Chaudieu, Isabelle I; Ryan, Joanne J

Publication Date: 2021-05-25

Variant appearance in text: rs429608

PubMed Link: 34034803

Variant Present in the following documents:

• Main text

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: rs429608

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: rs429608

PubMed Link: 33751148

Variant Present in the following documents:

• Main text
• 18_2021_Article_3796.pdf

View BVdb publication page

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The Genetic Background of Central Serous Chorioretinopathy: A Review on Central Serous Chorioretinopathy Genes.

Journal Of Genomics

Giannopoulos, Konstantinos K; Gazouli, Maria M; Chatzistefanou, Klio K; Bakouli, Anthi A; Moschos, Marilita M MM

Publication Date: 2021

Variant appearance in text: rs429608

PubMed Link: 33456587

Variant Present in the following documents:

• Main text
• jgenv09p0010.pdf

View BVdb publication page

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Genetic Variants Affecting Anti-VEGF Drug Response in Polypoidal Choroidal Vasculopathy Patients: A Systematic Review and Meta-Analysis.

Genes

Díaz-Villamarín, Xando X; Blánquez-Martínez, David D; Pozo-Agundo, Ana A; Pérez-Gutiérrez, Ana María AM; Muñoz-Ávila, José Ignacio JI; Antúnez-Rodríguez, Alba A; Fernández-Gómez, Ana Estefanía AE; García-Navas, Paloma P; Martínez-González, Luis Javier LJ; Dávila-Fajardo, Cristina Lucía CL

Publication Date: 2020-11-12

Variant appearance in text: rs429608

PubMed Link: 33198211

Variant Present in the following documents:

• Main text
• genes-11-01335.pdf

View BVdb publication page

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Association between Polygenic Risk Score and One-Year Outcomes Following As-Needed Aflibercept Therapy for Exudative Age-Related Macular Degeneration.

Pharmaceuticals (Basel, Switzerland)

Shijo, Taiyo T; Sakurada, Yoichi Y; Yoneyama, Seigo S; Kikushima, Wataru W; Sugiyama, Atsushi A; Matsubara, Mio M; Fukuda, Yoshiko Y; Mabuchi, Fumihiko F; Kashiwagi, Kenji K

Publication Date: 2020-09-20

Variant appearance in text: rs429608

PubMed Link: 32962278

Variant Present in the following documents:

• Main text
• pharmaceuticals-13-00257.pdf

View BVdb publication page

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Dickkopf-1 Overexpression in vitro Nominates Candidate Blood Biomarkers Relating to Alzheimer's Disease Pathology.

Journal Of Alzheimer'S Disease : Jad

Shi, Liu L; Winchester, Laura M LM; Liu, Benjamine Y BY; Killick, Richard R; Ribe, Elena M EM; Westwood, Sarah S; Baird, Alison L AL; Buckley, Noel J NJ; Hong, Shengjun S; Dobricic, Valerija V; Kilpert, Fabian F; Franke, Andre A; Kiddle, Steven S; Sattlecker, Martina M; Dobson, Richard R; Cuadrado, Antonio A; Hye, Abdul A; Ashton, Nicholas J NJ; Morgan, Angharad R AR; Bos, Isabelle I; Vos, Stephanie J B SJB; Ten Kate, Mara M; Scheltens, Philip P; Vandenberghe, Rik R; Gabel, Silvy S; Meersmans, Karen K; Engelborghs, Sebastiaan S; De Roeck, Ellen E EE; Sleegers, Kristel K; Frisoni, Giovanni B GB; Blin, Olivier O; Richardson, Jill C JC; Bordet, Régis R; Molinuevo, José L JL; Rami, Lorena L; Wallin, Anders A; Kettunen, Petronella P; Tsolaki, Magda M; Verhey, Frans F; Lleó, Alberto A; Alcolea, Daniel D; Popp, Julius J; Peyratout, Gwendoline G; Martinez-Lage, Pablo P; Tainta, Mikel M; Johannsen, Peter P; Teunissen, Charlotte E CE; Freund-Levi, Yvonne Y; Frölich, Lutz L; Legido-Quigley, Cristina C; Barkhof, Frederik F; Blennow, Kaj K; Rasmussen, Katrine Laura KL; Nordestgaard, Børge Grønne BG; Frikke-Schmidt, Ruth R; Nielsen, Sune Fallgaard SF; Soininen, Hilkka H; Vellas, Bruno B; Kloszewska, Iwona I; Mecocci, Patrizia P; Zetterberg, Henrik H; Morgan, B Paul BP; Streffer, Johannes J; Visser, Pieter Jelle PJ; Bertram, Lars L; Nevado-Holgado, Alejo J AJ; Lovestone, Simon S

Publication Date: 2020

Variant appearance in text: rs429608

PubMed Link: 32831200

Variant Present in the following documents:

• Main text
• jad-77-jad200208.pdf

View BVdb publication page

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Genetic factors associated with response to as-needed aflibercept therapy for typical neovascular age-related macular degeneration and polypoidal choroidal vasculopathy.

Scientific Reports

Yoneyama, Seigo S; Sakurada, Yoichi Y; Kikushima, Wataru W; Sugiyama, Atsushi A; Matsubara, Mio M; Fukuda, Yoshiko Y; Tanabe, Naohiko N; Parikh, Ravi R; Mabuchi, Fumihiko F; Kashiwagi, Kenji K; Iijima, Hiroyuki H

Publication Date: 2020-04-28

Variant appearance in text: rs429608

PubMed Link: 32346038

Variant Present in the following documents:

• Main text
• 41598_2020_Article_64301.pdf

View BVdb publication page

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Risk factors for progression of age-related macular degeneration.

Ophthalmic & Physiological Optics : The Journal Of The British College Of Ophthalmic Opticians (Optometrists)

Heesterbeek, Thomas J TJ; Lorés-Motta, Laura L; Hoyng, Carel B CB; Lechanteur, Yara T E YTE; den Hollander, Anneke I AI

Publication Date: 2020-03

Variant appearance in text: rs429608

PubMed Link: 32100327

Variant Present in the following documents:

• Main text

View BVdb publication page

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Association of Irregular Pigment Epithelial Detachment in Central Serous Chorioretinopathy with Genetic Variants Implicated in Age-related Macular Degeneration.

Scientific Reports

Cho, Soo Chang SC; Ryoo, Na-Kyung NK; Ahn, Jeeyun J; Woo, Se Joon SJ; Park, Kyu Hyung KH

Publication Date: 2020-01-27

Variant appearance in text: rs429608

PubMed Link: 31988359

Variant Present in the following documents:

• Main text
• 41598_2020_Article_57747.pdf

View BVdb publication page

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Choroidal Neovascularization: Mechanisms of Endothelial Dysfunction.

Frontiers In Pharmacology

Yeo, Natalie Jia Ying NJY; Chan, Ebenezer Jia Jun EJJ; Cheung, Christine C

Publication Date: 2019

Variant appearance in text: rs429608

PubMed Link: 31849644

Variant Present in the following documents:

• Main text

View BVdb publication page

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Do age-related macular degeneration genes show association with keratoconus?

Eye And Vision (London, England)

Cao, Ke K; Sahebjada, Srujana S; Richardson, Andrea J AJ; Baird, Paul N PN

Publication Date: 2019

Variant appearance in text: rs429608

PubMed Link: 31819893

Variant Present in the following documents:

• Main text

View BVdb publication page

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Evaluation of the association of C5 with neovascular age-related macular degeneration and polypoidal choroidal vasculopathy.

Eye And Vision (London, England)

Liu, Ke K; Ma, Li L; Lai, Timothy Y Y TYY; Brelen, Marten E ME; Tam, Pancy O S POS; Tham, Clement C CC; Pang, Chi Pui CP; Chen, Li Jia LJ

Publication Date: 2019

Variant appearance in text: rs429608

PubMed Link: 31720301

Variant Present in the following documents:

• Main text
• 40662_2019_Article_161.pdf

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: rs429608

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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An RNA Metabolism and Surveillance Quartet in the Major Histocompatibility Complex.

Cells

Zhou, Danlei D; Lai, Michalea M; Luo, Aiqin A; Yu, Chack-Yung CY

Publication Date: 2019-08-30

Variant appearance in text: rs429608

PubMed Link: 31480283

Variant Present in the following documents:

• Main text

View BVdb publication page

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Systemic expression of Alu RNA in patients with geographic atrophy secondary to age-related macular degeneration.

Plos One

Yoshida, Hiroyuki H; Matsushita, Tokiyoshi T; Kimura, Erika E; Fujita, Yukie Y; Keany, Robert R; Ikeda, Toshihiro T; Toshimori, Masanao M; Imanaka, Takahiro T; Nakamura, Masatsugu M

Publication Date: 2019

Variant appearance in text: rs429608

PubMed Link: 31425537

Variant Present in the following documents:

• Main text
• pone.0220887.pdf

View BVdb publication page

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Genetic Variants in Antineutrophil Cytoplasmic Antibody-Associated Vasculitis: A Bayesian Approach and Systematic Review.

Journal Of Clinical Medicine

Lee, Kwang Seob KS; Kronbichler, Andreas A; Pereira Vasconcelos, Daniel Fernando DF; Pereira da Silva, Felipe Rodolfo FR; Ko, Younhee Y; Oh, Yeon Su YS; Eisenhut, Michael M; Merkel, Peter A PA; Jayne, David D; Amos, Christopher I CI; Siminovitch, Katherine A KA; Rahmattulla, Chinar C; Lee, Keum Hwa KH; Shin, Jae Il JI

Publication Date: 2019-02-21

Variant appearance in text: rs429608

PubMed Link: 30795559

Variant Present in the following documents:

• jcm-08-00266-s001.pdf

View BVdb publication page

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Whole-genome methylation profiling of the retinal pigment epithelium of individuals with age-related macular degeneration reveals differential methylation of the SKI, GTF2H4, and TNXB genes.

Clinical Epigenetics

Porter, Louise F LF; Saptarshi, Neil N; Fang, Yongxiang Y; Rathi, Sonika S; den Hollander, Anneke I AI; de Jong, Eiko K EK; Clark, Simon J SJ; Bishop, Paul N PN; Olsen, Timothy W TW; Liloglou, Triantafillos T; Chavali, Venkata R M VRM; Paraoan, Luminita L

Publication Date: 2019-01-14

Variant appearance in text: rs429608

PubMed Link: 30642396

Variant Present in the following documents:

• Main text
• 13148_2019_Article_608.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: rs429608

PubMed Link: 30378292

Variant Present in the following documents:

• CAM4-7-6308-s006.xlsx, sheet 1

View BVdb publication page

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Identification of a two-SNP PLA2R1 Haplotype and HLA-DRB1 Alleles as Primary Risk Associations in Idiopathic Membranous Nephropathy.

Scientific Reports

Latt, Khun Zaw KZ; Honda, Kenjiro K; Thiri, Myo M; Hitomi, Yuki Y; Omae, Yosuke Y; Sawai, Hiromi H; Kawai, Yosuke Y; Teraguchi, Shunsuke S; Ueno, Kazuko K; Nagasaki, Masao M; Mabuchi, Akihiko A; Kaga, Hajime H; Komatsuda, Atsushi A; Tokunaga, Katsushi K; Noiri, Eisei E

Publication Date: 2018-10-22

Variant appearance in text: rs429608

PubMed Link: 30349113

Variant Present in the following documents:

• 41598_2018_33612_MOESM1_ESM.pdf

View BVdb publication page

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Association of ARMS2 genotype with response to anti-vascular endothelial growth factor treatment in polypoidal choroidal vasculopathy.

Bmc Ophthalmology

Park, Un Chul UC; Shin, Joo Young JY; Chung, Hum H; Yu, Hyeong Gon HG

Publication Date: 2017-12-07

Variant appearance in text: rs429608

PubMed Link: 29212537

Variant Present in the following documents:

• Main text
• 12886_2017_Article_631.pdf

View BVdb publication page

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Identification of Functional and Expression Polymorphisms Associated With Risk for Antineutrophil Cytoplasmic Autoantibody-Associated Vasculitis.

Arthritis & Rheumatology (Hoboken, N.J.)

Merkel, Peter A PA; Xie, Gang G; Monach, Paul A PA; Ji, Xuemei X; Ciavatta, Dominic J DJ; Byun, Jinyoung J; Pinder, Benjamin D BD; Zhao, Ai A; Zhang, Jinyi J; Tadesse, Yohannes Y; Qian, David D; Weirauch, Matthew M; Nair, Rajan R; Tsoi, Alex A; Pagnoux, Christian C; Carette, Simon S; Chung, Sharon S; Cuthbertson, David D; Davis, John C JC; Dellaripa, Paul F PF; Forbess, Lindsy L; Gewurz-Singer, Ora O; Hoffman, Gary S GS; Khalidi, Nader N; Koening, Curry C; Langford, Carol A CA; Mahr, Alfred D AD; McAlear, Carol C; Moreland, Larry L; Seo, E Philip EP; Specks, Ulrich U; Spiera, Robert F RF; Sreih, Antoine A; St Clair, E William EW; Stone, John H JH; Ytterberg, Steven R SR; Elder, James T JT; Qu, Jia J; Ochi, Toshiki T; Hirano, Naoto N; Edberg, Jeffrey C JC; Falk, Ronald J RJ; Amos, Christopher I CI; Siminovitch, Katherine A KA; ,

Publication Date: 2017-05

Variant appearance in text: rs429608

PubMed Link: 28029757

Variant Present in the following documents:

• ART-69-1054-s002.pdf

View BVdb publication page

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Protective coding variants in CFH and PELI3 and a variant near CTRB1 are associated with age-related macular degeneration†.

Human Molecular Genetics

Yu, Yi Y; Wagner, Erin K EK; Souied, Eric H EH; Seitsonen, Sanna S; Immonen, Ilkka J IJ; Häppölä, Paavo P; Raychaudhuri, Soumya S; Daly, Mark J MJ; Seddon, Johanna M JM

Publication Date: 2016-12-01

Variant appearance in text: rs429608

PubMed Link: 28011711

Variant Present in the following documents:

• Main text

View BVdb publication page

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Progression Rate From Intermediate to Advanced Age-Related Macular Degeneration Is Correlated With the Number of Risk Alleles at the CFH Locus.

Investigative Ophthalmology & Visual Science

Sardell, Rebecca J RJ; Persad, Patrice J PJ; Pan, Samuel S SS; Whitehead, Patrice P; Adams, Larry D LD; Laux, Reneé A RA; Fortun, Jorge A JA; Brantley, Milam A MA; Kovach, Jaclyn L JL; Schwartz, Stephen G SG; Agarwal, Anita A; Haines, Jonathan L JL; Scott, William K WK; Pericak-Vance, Margaret A MA

Publication Date: 2016-11-01

Variant appearance in text: rs429608

PubMed Link: 27832277

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genotype distribution-based inference of collective effects in genome-wide association studies: insights to age-related macular degeneration disease mechanism.

Bmc Genomics

Woo, Hyung Jun HJ; Yu, Chenggang C; Kumar, Kamal K; Gold, Bert B; Reifman, Jaques J

Publication Date: 2016-08-30

Variant appearance in text: rs429608

PubMed Link: 27576376

Variant Present in the following documents:

• 12864_2016_Article_2871.pdf

View BVdb publication page

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Risk factors and biomarkers of age-related macular degeneration.

Progress In Retinal And Eye Research

Lambert, Nathan G NG; ElShelmani, Hanan H; Singh, Malkit K MK; Mansergh, Fiona C FC; Wride, Michael A MA; Padilla, Maximilian M; Keegan, David D; Hogg, Ruth E RE; Ambati, Balamurali K BK

Publication Date: 2016-09

Variant appearance in text: rs429608

PubMed Link: 27156982

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: rs429608

PubMed Link: 27090374

Variant Present in the following documents:

• Main text
• 12974_2016_Article_548.pdf

View BVdb publication page

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Associations of 6p21.3 Region with Age-related Macular Degeneration and Polypoidal Choroidal Vasculopathy.

Scientific Reports

Ye, Zimeng Z; Shuai, Ping P; Zhai, Yaru Y; Li, Fang F; Jiang, Lingxi L; Lu, Fang F; Wen, Feng F; Huang, Lulin L; Zhang, Dingding D; Liu, Xiaoqi X; Lin, Ying Y; Luo, Huaichao H; Zhang, Houbin H; Zhu, Xianjun X; Wu, Zhengzheng Z; Yang, Zhenglin Z; Gong, Bo B; Shi, Yi Y

Publication Date: 2016-02-10

Variant appearance in text: rs429608

PubMed Link: 26861912

Variant Present in the following documents:

• Main text
• srep20914.pdf

View BVdb publication page

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Common coding variants in the HLA-DQB1 region confer susceptibility to age-related macular degeneration.

European Journal Of Human Genetics : Ejhg

Jorgenson, Eric E; Melles, Ronald B RB; Hoffmann, Thomas J TJ; Jia, Xiaoming X; Sakoda, Lori C LC; Kvale, Mark N MN; Banda, Yambazi Y; Schaefer, Catherine C; Risch, Neil N; Shen, Ling L

Publication Date: 2016-07

Variant appearance in text: rs429608

PubMed Link: 26733291

Variant Present in the following documents:

• Main text

View BVdb publication page

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Pachychoroid neovasculopathy and age-related macular degeneration.

Scientific Reports

Miyake, Masahiro M; Ooto, Sotaro S; Yamashiro, Kenji K; Takahashi, Ayako A; Yoshikawa, Munemitsu M; Akagi-Kurashige, Yumiko Y; Ueda-Arakawa, Naoko N; Oishi, Akio A; Nakanishi, Hideo H; Tamura, Hiroshi H; Tsujikawa, Akitaka A; Yoshimura, Nagahisa N

Publication Date: 2015-11-06

Variant appearance in text: rs429608

PubMed Link: 26542071

Variant Present in the following documents:

• Main text

View BVdb publication page

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Polypoidal Choroidal Vasculopathy in Asians.

Journal Of Clinical Medicine

Wong, Chee Wai CW; Wong, Tien Y TY; Cheung, Chui Ming Gemmy CM

Publication Date: 2015-04-24

Variant appearance in text: rs429608

PubMed Link: 26239448

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Association of OCT derived drusen measurements with AMD associated-genotypic SNPs in Amish population.

Journal Of Clinical Medicine

Chavali, Venkata Ramana Murthy VR; Diniz, Bruno B; Huang, Jiayan J; Ying, Gui-Shuang GS; Sadda, SriniVas R SR; Stambolian, Dwight D

Publication Date: 2015

Variant appearance in text: rs429608

PubMed Link: 25893111

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Transcriptome of the human retina, retinal pigmented epithelium and choroid.

Genomics

Tian, Lifeng L; Kazmierkiewicz, Krista L KL; Bowman, Anita S AS; Li, Mingyao M; Curcio, Christine A CA; Stambolian, Dwight E DE

Publication Date: 2015-05

Variant appearance in text: rs429608

PubMed Link: 25645700

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New loci and coding variants confer risk for age-related macular degeneration in East Asians.

Nature Communications

Cheng, Ching-Yu CY; Yamashiro, Kenji K; Chen, Li Jia LJ; Ahn, Jeeyun J; Huang, Lulin L; Huang, Lvzhen L; Cheung, Chui Ming G CM; Miyake, Masahiro M; Cackett, Peter D PD; Yeo, Ian Y IY; Laude, Augustinus A; Mathur, Ranjana R; Pang, Junxiong J; Sim, Kar Seng KS; Koh, Adrian H AH; Chen, Peng P; Lee, Shu Yen SY; Wong, Doric D; Chan, Choi Mun CM; Loh, Boon Kwang BK; Sun, Yaoyao Y; Davila, Sonia S; Nakata, Isao I; Nakanishi, Hideo H; Akagi-Kurashige, Yumiko Y; Gotoh, Norimoto N; Tsujikawa, Akitaka A; Matsuda, Fumihiko F; Mori, Keisuke K; Yoneya, Shin S; Sakurada, Yoichi Y; Iijima, Hiroyuki H; Iida, Tomohiro T; Honda, Shigeru S; Lai, Timothy Yuk Yau TY; Tam, Pancy Oi Sin PO; Chen, Haoyu H; Tang, Shibo S; Ding, Xiaoyan X; Wen, Feng F; Lu, Fang F; Zhang, Xiongze X; Shi, Yi Y; Zhao, Peiquan P; Zhao, Bowen B; Sang, Jinghong J; Gong, Bo B; Dorajoo, Rajkumar R; Yuan, Jian-Min JM; Koh, Woon-Puay WP; van Dam, Rob M RM; Friedlander, Yechiel Y; Lin, Ying Y; Hibberd, Martin L ML; Foo, Jia Nee JN; Wang, Ningli N; Wong, Chang Hua CH; Tan, Gavin S GS; Park, Sang Jun SJ; Bhargava, Mayuri M; Gopal, Lingam L; Naing, Thet T; Liao, Jiemin J; Ong, Peng Guan PG; Mitchell, Paul P; Zhou, Peng P; Xie, Xuefeng X; Liang, Jinlong J; Mei, Junpu J; Jin, Xin X; Saw, Seang-Mei SM; Ozaki, Mineo M; Mizoguchi, Takanori T; Kurimoto, Yasuo Y; Woo, Se Joon SJ; Chung, Hum H; Yu, Hyeong-Gon HG; Shin, Joo Young JY; Park, Dong Ho DH; Kim, In Taek IT; Chang, Woohyok W; Sagong, Min M; Lee, Sang-Joon SJ; Kim, Hyun Woong HW; Lee, Ji Eun JE; Li, Yi Y; Liu, Jianjun J; Teo, Yik Ying YY; Heng, Chew Kiat CK; Lim, Tock Han TH; Yang, Suk-Kyun SK; Song, Kyuyoung K; Vithana, Eranga N EN; Aung, Tin T; Bei, Jin Xin JX; Zeng, Yi Xin YX; Tai, E Shyong ES; Li, Xiao Xin XX; Yang, Zhenglin Z; Park, Kyu-Hyung KH; Pang, Chi Pui CP; Yoshimura, Nagahisa N; Wong, Tien Yin TY; Khor, Chiea Chuen CC

Publication Date: 2015-01-28

Variant appearance in text: rs429608

PubMed Link: 25629512

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Endophenotypes for Age-Related Macular Degeneration: Extending Our Reach into the Preclinical Stages of Disease.

Journal Of Clinical Medicine

Gorin, Michael B MB; Weeks, Daniel E DE; Baron, Robert V RV; Conley, Yvette P YP; Ortube, Maria C MC; Nusinowitz, Steven S

Publication Date: 2014-11-28

Variant appearance in text: rs429608

PubMed Link: 25568804

Variant Present in the following documents:

• Main text
• jcm-03-01335.pdf

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