Publications:

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Genome-wide association study and identification of systemic comorbidities in development of age-related macular degeneration in a hospital-based cohort of Han Chinese.

Frontiers In Genetics

Shih, Chien-Hung CH; Chuang, Hao-Kai HK; Hsiao, Tzu-Hung TH; Yang, Yi-Ping YP; Gao, Chong-En CE; Chiou, Shih-Hwa SH; Hsu, Chih-Chien CC; Hwang, De-Kuang DK

Publication Date: 2023

Variant appearance in text: rs2274700

PubMed Link: 36911400

Variant Present in the following documents:

• Main text
• fgene-14-1064659.pdf

View BVdb publication page

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Phenome-wide Mendelian randomisation analysis identifies causal factors for age-related macular degeneration.

Elife

Julian, Thomas H TH; Cooper-Knock, Johnathan J; MacGregor, Stuart S; Guo, Hui H; Aslam, Tariq T; Sanderson, Eleanor E; Black, Graeme C M GCM; Sergouniotis, Panagiotis I PI

Publication Date: 2023-01-27

Variant appearance in text: rs2274700

PubMed Link: 36705323

Variant Present in the following documents:

• Main text
• elife-82546.pdf

View BVdb publication page

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Polygenic Risk Score Impact on Susceptibility to Age-Related Macular Degeneration in Polish Patients.

Journal Of Clinical Medicine

Wąsowska, Anna A; Teper, Sławomir S; Matczyńska, Ewa E; Łyszkiewicz, Przemysław P; Sendecki, Adam A; Machalińska, Anna A; Wylęgała, Edward E; Boguszewska-Chachulska, Anna A

Publication Date: 2022-12-30

Variant appearance in text: CFH: A473A; rs2274700

PubMed Link: 36615095

Variant Present in the following documents:

• Main text
• jcm-12-00295.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: CFH: A473A; rs2274700

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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Identifying Novel Genes and Variants in Immune and Coagulation Pathways Associated with Macular Degeneration.

Ophthalmology Science

Huan, Tianxiao T; Cheng, Shun-Yun SY; Tian, Bo B; Punzo, Claudio C; Lin, Haijiang H; Daly, Mark M; Seddon, Johanna M JM

Publication Date: 2023-03

Variant appearance in text: rs2274700

PubMed Link: 36275200

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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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: CFH: A473A

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM7_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM4_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: CFH: A473A; rs2274700

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2

View BVdb publication page

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Variation in CFHR3 determines susceptibility to meningococcal disease by controlling factor H concentrations.

American Journal Of Human Genetics

Kumar, Vikrant V; Pouw, Richard B RB; Autio, Matias I MI; Sagmeister, Manfred G MG; Phua, Zai Yang ZY; Borghini, Lisa L; Wright, Victoria J VJ; Hoggart, Clive C; Pan, Bangfen B; Tan, Antson Kiat Yee AKY; Binder, Alexander A; Brouwer, Mieke C MC; Pinnock, Ellie E; De Groot, Ronald R; Hazelzet, Jan J; Emonts, Marieke M; Van Der Flier, Michiel M; Reiter, Karl K; Nöthen, Markus M MM; Hoffmann, Per P; , ; Schlapbach, Luregn J LJ; Bellos, Evangelos E; Anderson, Suzanne S; Secka, Fatou F; Martinón-Torres, Federico F; Salas, Antonio A; Fink, Colin C; Carrol, Enitan D ED; Pollard, Andrew J AJ; Coin, Lachlan J LJ; Zenz, Werner W; Wouters, Diana D; Ang, Lay Teng LT; Hibberd, Martin L ML; Levin, Michael M; Kuijpers, Taco W TW; Davila, Sonia S

Publication Date: 2022-09-01

Variant appearance in text: rs2274700

PubMed Link: 36007525

Variant Present in the following documents:

• mmc1.pdf
• mmc3.pdf

View BVdb publication page

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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: CFH: A473A; rs2274700

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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Biomarkers as Predictive Factors of Anti-VEGF Response.

Biomedicines

Bobadilla, Miriam M; Pariente, Ana A; Oca, Ana I AI; Peláez, Rafael R; Pérez-Sala, Álvaro Á; Larráyoz, Ignacio M IM

Publication Date: 2022-04-26

Variant appearance in text: rs2274700

PubMed Link: 35625740

Variant Present in the following documents:

• biomedicines-10-01003.pdf

View BVdb publication page

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Genetic and environmental risk factors for reticular pseudodrusen in the EUGENDA study.

Molecular Vision

Altay, Lebriz L; Liakopoulos, Sandra S; Berghold, Aileen A; Rosenberger, Kerstin-Daniela KD; Ernst, Angela A; de Breuk, Anita A; den Hollander, Anneke I AI; Fauser, Sascha S; Schick, Tina T

Publication Date: 2021

Variant appearance in text: rs2274700

PubMed Link: 35136347

Variant Present in the following documents:

• Main text
• mv-v27-757.pdf

View BVdb publication page

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Atypical Hemolytic Uremic Syndrome (aHUS) and Adenosine Deaminase (ADA)-Deficient Severe Combined Immunodeficiency (SCID)-Two Diseases That Exacerbate Each Other: Case Report.

International Journal Of Molecular Sciences

Bogdał, Anna A; Badeński, Andrzej A; Pac, Małgorzata M; Wójcicka, Anna A; Badeńska, Marta M; Didyk, Agnieszka A; Trembecka-Dubel, Elżbieta E; Dąbrowska-Leonik, Nel N; Walaszczyk, Małgorzata M; Matysiak, Natalia N; Morawiec-Knysak, Aurelia A; Szczepański, Tomasz T; Szczepańska, Maria M

Publication Date: 2021-08-31

Variant appearance in text: rs2274700

PubMed Link: 34502390

Variant Present in the following documents:

• Main text
• ijms-22-09479.pdf

View BVdb publication page

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Genomic atlas of the proteome from brain, CSF and plasma prioritizes proteins implicated in neurological disorders.

Nature Neuroscience

Yang, Chengran C; Farias, Fabiana H G FHG; Ibanez, Laura L; Suhy, Adam A; Sadler, Brooke B; Fernandez, Maria Victoria MV; Wang, Fengxian F; Bradley, Joseph L JL; Eiffert, Brett B; Bahena, Jorge A JA; Budde, John P JP; Li, Zeran Z; Dube, Umber U; Sung, Yun Ju YJ; Mihindukulasuriya, Kathie A KA; Morris, John C JC; Fagan, Anne M AM; Perrin, Richard J RJ; Benitez, Bruno A BA; Rhinn, Herve H; Harari, Oscar O; Cruchaga, Carlos C

Publication Date: 2021-09

Variant appearance in text: CFH: A473A

PubMed Link: 34239129

Variant Present in the following documents:

• NIHMS1711548-supplement-supTables1to35.xlsx, sheet 4
• NIHMS1711548-supplement-supTables1to35.xlsx, sheet 5

View BVdb publication page

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Genomic atlas of the proteome from brain, CSF and plasma prioritizes proteins implicated in neurological disorders.

Nature Neuroscience

Yang, Chengran C; Farias, Fabiana H G FHG; Ibanez, Laura L; Suhy, Adam A; Sadler, Brooke B; Fernandez, Maria Victoria MV; Wang, Fengxian F; Bradley, Joseph L JL; Eiffert, Brett B; Bahena, Jorge A JA; Budde, John P JP; Li, Zeran Z; Dube, Umber U; Sung, Yun Ju YJ; Mihindukulasuriya, Kathie A KA; Morris, John C JC; Fagan, Anne M AM; Perrin, Richard J RJ; Benitez, Bruno A BA; Rhinn, Herve H; Harari, Oscar O; Cruchaga, Carlos C

Publication Date: 2021-09

Variant appearance in text: CFH: A473A

PubMed Link: 34239129

Variant Present in the following documents:

• NIHMS1711548-supplement-supTables1to35.xlsx, sheet 5
• NIHMS1711548-supplement-supTables1to35.xlsx, sheet 4

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: CFH: Ala473Ala; rs2274700

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Poor allograft outcome in Indian patients with post-transplant C3 glomerulopathy.

Clinical Kidney Journal

Kumar, Ashwani A; Ramachandran, Raja R; Rawat, Amit A; Das, Reena R; Rayat, Charan S CS; Kenwar, Deepesh B DB; Sharma, Ashish A; Gupta, Krishan L KL; Nada, Ritambhra R

Publication Date: 2021-01

Variant appearance in text: CFH: Ala473Ala; rs2274700

PubMed Link: 33564431

Variant Present in the following documents:

• Main text
• sfz135.pdf

View BVdb publication page

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Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.

Bmc Medical Genomics

Yang, Guangxian G; Yin, Yi Y; Tan, Zhiping Z; Liu, Jian J; Deng, Xicheng X; Yang, Yifeng Y

Publication Date: 2021-01-21

Variant appearance in text: CFH: Ala473Ala; rs2274700

PubMed Link: 33478437

Variant Present in the following documents:

• 12920_2021_871_MOESM2_ESM.xls, sheet 1

View BVdb publication page

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Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications

Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A

Publication Date: 2021-01-08

Variant appearance in text: CFH: A473A; rs2274700

PubMed Link: 33420045

Variant Present in the following documents:

• 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
• 41540_2020_161_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Eculizumab for pediatric dense deposit disease: A case report and literature review.

Clinical Nephrology. Case Studies

Kasahara, Katsuaki K; Gotoh, Yoshimitsu Y; Majima, Hisakazu H; Takeda, Asami A; Mizuno, Masashi M

Publication Date: 2020

Variant appearance in text: CFH: A473A

PubMed Link: 33329990

Variant Present in the following documents:

• Main text

View BVdb publication page

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Targeted exome sequencing identified a novel USH2A mutation in a Chinese usher syndrome family: a case report.

Bmc Ophthalmology

Xing, Dongjun D; Zhou, Huaiyu H; Yu, Rongguo R; Wang, Linni L; Hu, Liying L; Li, Zhiqing Z; Li, Xiaorong X

Publication Date: 2020-12-10

Variant appearance in text: CFH: Ala473Ala; rs2274700

PubMed Link: 33302902

Variant Present in the following documents:

• 12886_2020_1711_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Role of complement factor B rs4151667 (L9H) polymorphisms and its interactional role with CFH Y402H and C3 rs2230199 (R102G) risk variants in age-related macular degeneration: a case control study.

Bmc Ophthalmology

Roshanipour, Nasrin N; Laleh, Maryam Ghaffari MG; Bonyadi, Mortaza M; Bonyadi, Mohammad Hossein Jabbarpoor MHJ; Soheilian, Masoud M; Javadzadeh, Alireza A; Yaseri, Mehdi M

Publication Date: 2020-08-06

Variant appearance in text: rs2274700

PubMed Link: 32762675

Variant Present in the following documents:

• Main text
• 12886_2020_Article_1552.pdf

View BVdb publication page

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Characteristics of Pachychoroid Diseases and Age-Related Macular Degeneration: Multimodal Imaging and Genetic Backgrounds.

Journal Of Clinical Medicine

Yamashiro, Kenji K; Hosoda, Yoshikatsu Y; Miyake, Masahiro M; Ooto, Sotaro S; Tsujikawa, Akitaka A

Publication Date: 2020-06-29

Variant appearance in text: rs2274700

PubMed Link: 32610483

Variant Present in the following documents:

• Main text
• jcm-09-02034.pdf

View BVdb publication page

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Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis

Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q

Publication Date: 2020-09

Variant appearance in text: CFH: A473A; rs2274700

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

View BVdb publication page

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The association of polypoidal choroidal vasculopathy clinical phenotypes with previously reported genetic markers.

Graefe'S Archive For Clinical And Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie

Luo, Mingyue M; Zhao, Xinyu X; Yang, Jingyuan J; Chen, Youxin Y

Publication Date: 2020-06

Variant appearance in text: rs2274700

PubMed Link: 32328755

Variant Present in the following documents:

• Main text

View BVdb publication page

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Eculizumab in chemotherapy-induced thrombotic microangiopathy.

Clinical Nephrology. Case Studies

Schulte-Kemna, Lena L; Reister, Barbara B; Bettac, Lucas L; Ludwig, Ulla U; Fürst, Daniel D; Mytilineos, Joannis J; Bergmann, Carsten C; van Erp, Rene R; Schröppel, Bernd B

Publication Date: 2020

Variant appearance in text: CFH: Ala473Ala

PubMed Link: 32318323

Variant Present in the following documents:

• Main text
• CNCS-8-025.pdf

View BVdb publication page

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Common variants of fetal and maternal complement genes in preeclampsia: pregnancy specific complotype.

Scientific Reports

Banadakoppa, Manu M; Balakrishnan, Meena M; Yallampalli, Chandra C

Publication Date: 2020-03-16

Variant appearance in text: rs2274700

PubMed Link: 32179765

Variant Present in the following documents:

• Main text
• 41598_2020_Article_60539.pdf

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: rs2274700

PubMed Link: 31819893

Variant Present in the following documents:

• Main text
• 40662_2019_Article_164.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: CFH: Ala473=; rs2274700

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: CFH: A473A; rs2274700

PubMed Link: 31597922

Variant Present in the following documents:

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

View BVdb publication page

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The effect of complement factor B gene variation on age-related macular degeneration in Iranian patients.

Journal Of Current Ophthalmology

Roshanipour, Nasrin N; Bonyadi, Morteza M; Jabbarpour Bonyadi, Mohammad Hossein MH; Soheilian, Masoud M

Publication Date: 2019-09

Variant appearance in text: rs2274700

PubMed Link: 31528764

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease

Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D

Publication Date: 2019-02-27

Variant appearance in text: CFH: Ala473Ala; rs2274700

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3

View BVdb publication page

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Genomic characterization of metastatic ultra-hypermutated interdigitating dendritic cell sarcoma through rapid research autopsy.

Oncotarget

Chen, Hui-Zi HZ; Bonneville, Russell R; Yu, Lianbo L; Wing, Michele R MR; Reeser, Julie W JW; Krook, Melanie A MA; Miya, Jharna J; Samorodnitsky, Eric E; Smith, Amy A; Martin, Dorrelyn D; Dao, Thuy T; Guo, Qishan Q; Liebner, David D; Freud, Aharon G AG; Allenby, Patricia P; Roychowdhury, Sameek S

Publication Date: 2019-01-08

Variant appearance in text: CFH: A473A; rs2274700

PubMed Link: 30719225

Variant Present in the following documents:

• oncotarget-10-277-s002.xlsx, sheet 7
• oncotarget-10-277-s002.xlsx, sheet 1
• oncotarget-10-277-s002.xlsx, sheet 6
• oncotarget-10-277-s002.xlsx, sheet 4
• oncotarget-10-277-s002.xlsx, sheet 5
• oncotarget-10-277-s006.xlsx, sheet 1
• oncotarget-10-277-s002.xlsx, sheet 8
• oncotarget-10-277-s002.xlsx, sheet 10
• oncotarget-10-277-s002.xlsx, sheet 2
• oncotarget-10-277-s002.xlsx, sheet 9
• oncotarget-10-277-s002.xlsx, sheet 3

View BVdb publication page

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Complement System and Age-Related Macular Degeneration: Implications of Gene-Environment Interaction for Preventive and Personalized Medicine.

Biomed Research International

Maugeri, Andrea A; Barchitta, Martina M; Mazzone, Maria Grazia MG; Giuliano, Francesco F; Agodi, Antonella A

Publication Date: 2018

Variant appearance in text: CFH: A473A; rs2274700

PubMed Link: 30225264

Variant Present in the following documents:

• Main text
• BMRI2018-7532507.pdf

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: CFH: A473A; rs2274700

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 7
• MGG3-6-739-s002.xlsx, sheet 6

View BVdb publication page

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Renal and Pulmonary Dense Deposit Disease Presenting as Pulmonary-Renal Syndrome.

Kidney International Reports

Nada, Ritambhra R; Kumar, Ashwani A; Agrawal, Parimal P; Ramachandran, Raja R; Sethi, Sanjeev S

Publication Date: 2018-05

Variant appearance in text: CFH: Ala473=; rs2274700

PubMed Link: 29854987

Variant Present in the following documents:

• Main text

View BVdb publication page

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Secure genome-wide association analysis using multiparty computation.

Nature Biotechnology

Cho, Hyunghoon H; Wu, David J DJ; Berger, Bonnie B

Publication Date: 2018-07

Variant appearance in text: rs2274700

PubMed Link: 29734293

Variant Present in the following documents:

• NIHMS944704-supplement-2.pdf

View BVdb publication page

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Exploring the Use of Molecular Biomarkers for Precision Medicine in Age-Related Macular Degeneration.

Molecular Diagnosis & Therapy

Lorés-Motta, Laura L; de Jong, Eiko K EK; den Hollander, Anneke I AI

Publication Date: 2018-06

Variant appearance in text: rs2274700

PubMed Link: 29700787

Variant Present in the following documents:

• Main text
• 40291_2018_Article_332.pdf

View BVdb publication page

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Genes and genetics in eye diseases: a genomic medicine approach for investigating hereditary and inflammatory ocular disorders.

International Journal Of Ophthalmology

Singh, Mahavir M; Tyagi, Suresh C SC

Publication Date: 2018

Variant appearance in text: rs2274700

PubMed Link: 29376001

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic and environmental factors strongly influence risk, severity and progression of age-related macular degeneration.

Signal Transduction And Targeted Therapy

Wang, Wenqiu W; Gawlik, Katarzyna K; Lopez, Joe J; Wen, Cindy C; Zhu, Jie J; Wu, Frances F; Shi, William W; Scheibler, Samuel S; Cai, Huimin H; Vairavan, Ram R; Shi, Alexander A; Haw, Weldon W; Ferreyra, Henry H; Zhang, Ming M; Chang, Sherman S; Zhang, Kang K

Publication Date: 2016

Variant appearance in text: rs2274700

PubMed Link: 29263899

Variant Present in the following documents:

• Main text

View BVdb publication page

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