Publications:

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Rare Dysfunctional Complement Factor I Genetic Variants and Progression to Advanced Age-Related Macular Degeneration.

Ophthalmology Science

Seddon, Johanna M JM; Rosner, Bernard B; De, Dikha D; Huan, Tianxiao T; Java, Anuja A; Atkinson, John J

Publication Date: 2023-06

Variant appearance in text: rs9542236

PubMed Link: 36909148

Variant Present in the following documents:

• Main text
• main.pdf

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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: rs9542236

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

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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: rs9542236

PubMed Link: 35136347

Variant Present in the following documents:

• Main text
• mv-v27-757.pdf

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Modulated anti-VEGF therapy under the influence of lipid metabolizing proteins in Age related macular degeneration: a pilot study.

Scientific Reports

Sharma, Kaushal K; Battu, Priya P; Singh, Ramandeep R; Sharma, Suresh Kumar SK; Anand, Akshay A

Publication Date: 2022-01-13

Variant appearance in text: rs9542236

PubMed Link: 35027571

Variant Present in the following documents:

• Main text
• 41598_2021_Article_4269.pdf

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Modulated anti-VEGF therapy under the influence of lipid metabolizing proteins in Age related macular degeneration: a pilot study.

Scientific Reports

Sharma, Kaushal K; Battu, Priya P; Singh, Ramandeep R; Sharma, Suresh Kumar SK; Anand, Akshay A

Publication Date: 2022-01-13

Variant appearance in text: rs9542236

PubMed Link: 35027571

Variant Present in the following documents:

• Main text
• 41598_2021_Article_4269.pdf

View BVdb publication page

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Sleeping pattern and activities of daily living modulate protein expression in AMD.

Plos One

Sharma, Kaushal K; Singh, Ramandeep R; Sharma, Suresh Kumar SK; Anand, Akshay A

Publication Date: 2021

Variant appearance in text: rs9542236

PubMed Link: 34061866

Variant Present in the following documents:

• Main text

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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: rs9542236

PubMed Link: 33456587

Variant Present in the following documents:

• Main text
• jgenv09p0010.pdf

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Rare and Common Genetic Variants, Smoking, and Body Mass Index: Progression and Earlier Age of Developing Advanced Age-Related Macular Degeneration.

Investigative Ophthalmology & Visual Science

Seddon, Johanna M JM; Widjajahakim, Rafael R; Rosner, Bernard B

Publication Date: 2020-12-01

Variant appearance in text: rs9542236

PubMed Link: 33369641

Variant Present in the following documents:

• iovs-61-14-32_s005.pdf
• iovs-61-14-32.pdf
• iovs-61-14-32_s004.pdf

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Genetic Susceptibility, Diet Quality, and Two-Step Progression in Drusen Size.

Investigative Ophthalmology & Visual Science

Merle, Bénédicte M J BMJ; Rosner, Bernard B; Seddon, Johanna M JM

Publication Date: 2020-05-11

Variant appearance in text: rs9542236

PubMed Link: 32407518

Variant Present in the following documents:

• Main text
• iovs-61-5-17.pdf

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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: rs9542236

PubMed Link: 31819893

Variant Present in the following documents:

• Main text
• 40662_2019_Article_164.pdf

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Validated Prediction Models for Macular Degeneration Progression and Predictors of Visual Acuity Loss Identify High-Risk Individuals.

American Journal Of Ophthalmology

Seddon, Johanna M JM; Rosner, Bernard B

Publication Date: 2019-02

Variant appearance in text: rs9542236

PubMed Link: 30389371

Variant Present in the following documents:

• Main text

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Uncovering genetic and non-genetic biomarkers specific for exudative age-related macular degeneration: significant association of twelve variants.

Oncotarget

Cascella, Raffaella R; Strafella, Claudia C; Longo, Giuliana G; Ragazzo, Michele M; Manzo, Laura L; De Felici, Cecilia C; Errichiello, Valeria V; Caputo, Valerio V; Viola, Francesco F; Eandi, Chiara Maria CM; Staurenghi, Giovanni G; Cusumano, Andrea A; Mauriello, Silvestro S; Marsella, Luigi Tonino LT; Ciccacci, Cinzia C; Borgiani, Paola P; Sangiuolo, Federica F; Novelli, Giuseppe G; Ricci, Federico F; Giardina, Emiliano E

Publication Date: 2018-01-30

Variant appearance in text: rs9542236

PubMed Link: 29487693

Variant Present in the following documents:

• Main text
• oncotarget-09-7812.pdf

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Genetic Association Analysis of Drusen Progression.

Investigative Ophthalmology & Visual Science

Hoffman, Joshua D JD; van Grinsven, Mark J J P MJ; Li, Chun C; Brantley, Milam M; McGrath, Josephine J; Agarwal, Anita A; Scott, William K WK; Schwartz, Stephen G SG; Kovach, Jaclyn J; Pericak-Vance, Margaret M; Sanchez, Clara I CI; Haines, Jonathan L JL

Publication Date: 2016-04-01

Variant appearance in text: rs9542236

PubMed Link: 27116550

Variant Present in the following documents:

• i1552-5783-57-4-2225.pdf

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Predictors of Response to Intravitreal Anti-Vascular Endothelial Growth Factor Treatment of Age-Related Macular Degeneration.

American Journal Of Ophthalmology

Shah, Anjali R AR; Williams, Steven S; Baumal, Caroline R CR; Rosner, Bernard B; Duker, Jay S JS; Seddon, Johanna M JM

Publication Date: 2016-03

Variant appearance in text: rs9542236

PubMed Link: 26705092

Variant Present in the following documents:

• Main text

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Differences in the Genetic Susceptibility to Age-Related Macular Degeneration Clinical Subtypes.

Investigative Ophthalmology & Visual Science

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

Publication Date: 2015-07

Variant appearance in text: rs9542236

PubMed Link: 26176866

Variant Present in the following documents:

• Main text

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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: rs9542236

PubMed Link: 25645700

Variant Present in the following documents:

• Main text

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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: rs9542236

PubMed Link: 25568804

Variant Present in the following documents:

• Main text
• jcm-03-01335.pdf

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Age-related macular degeneration: insights into inflammatory genes.

Journal Of Ophthalmology

Cascella, Raffaella R; Ragazzo, Michele M; Strafella, Claudia C; Missiroli, Filippo F; Borgiani, Paola P; Angelucci, Francesco F; Marsella, Luigi Tonino LT; Cusumano, Andrea A; Novelli, Giuseppe G; Ricci, Federico F; Giardina, Emiliano E

Publication Date: 2014

Variant appearance in text: rs9542236

PubMed Link: 25478207

Variant Present in the following documents:

• Main text
• JOPH2014-582842.pdf

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Using current data to define new approach in age related macular degeneration: need to accelerate translational research.

Current Genomics

Anand, Akshay A; Sharma, Kaushal K; Chen, Wei W; Sharma, Neel Kamal NK

Publication Date: 2014-08

Variant appearance in text: rs9542236

PubMed Link: 25132797

Variant Present in the following documents:

• Main text
• CG-15-266.pdf

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The role of the complement system in age-related macular degeneration.

Deutsches Arzteblatt International

Weber, Bernhard H F BH; Charbel Issa, Peter P; Pauly, Diana D; Herrmann, Philipp P; Grassmann, Felix F; Holz, Frank G FG

Publication Date: 2014-02-21

Variant appearance in text: rs9542236

PubMed Link: 24622760

Variant Present in the following documents:

• Main text

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Three new genetic loci (R1210C in CFH, variants in COL8A1 and RAD51B) are independently related to progression to advanced macular degeneration.

Plos One

Seddon, Johanna M JM; Reynolds, Robyn R; Yu, Yi Y; Rosner, Bernard B

Publication Date: 2014

Variant appearance in text: rs9542236

PubMed Link: 24498017

Variant Present in the following documents:

• Main text
• pone.0087047.pdf

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Prediction of age-related macular degeneration in the general population: the Three Continent AMD Consortium.

Ophthalmology

Buitendijk, Gabriëlle H S GHS; Rochtchina, Elena E; Myers, Chelsea C; van Duijn, Cornelia M CM; Lee, Kristine E KE; Klein, Barbara E K BEK; Meuer, Stacy M SM; de Jong, Paulus T V M PTVM; Holliday, Elizabeth G EG; Tan, Ava G AG; Uitterlinden, André G AG; Sivakumaran, Theru S TS; Attia, John J; Hofman, Albert A; Mitchell, Paul P; Vingerling, Johannes R JR; Iyengar, Sudha K SK; Janssens, A Cecile J W ACJW; Wang, Jie Jin JJ; Klein, Ronald R; Klaver, Caroline C W CCW

Publication Date: 2013-12

Variant appearance in text: rs9542236

PubMed Link: 24120328

Variant Present in the following documents:

• Main text

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Age-related macular degeneration-clinical review and genetics update.

Clinical Genetics

Ratnapriya, R R; Chew, E Y EY

Publication Date: 2013-08

Variant appearance in text: rs9542236

PubMed Link: 23713713

Variant Present in the following documents:

• Main text

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Seven new loci associated with age-related macular degeneration.

Nature Genetics

Fritsche, Lars G LG; Chen, Wei W; Schu, Matthew M; Yaspan, Brian L BL; Yu, Yi Y; Thorleifsson, Gudmar G; Zack, Donald J DJ; Arakawa, Satoshi S; Cipriani, Valentina V; Ripke, Stephan S; Igo, Robert P RP; Buitendijk, Gabriëlle H S GH; Sim, Xueling X; Weeks, Daniel E DE; Guymer, Robyn H RH; Merriam, Joanna E JE; Francis, Peter J PJ; Hannum, Gregory G; Agarwal, Anita A; Armbrecht, Ana Maria AM; Audo, Isabelle I; Aung, Tin T; Barile, Gaetano R GR; Benchaboune, Mustapha M; Bird, Alan C AC; Bishop, Paul N PN; Branham, Kari E KE; Brooks, Matthew M; Brucker, Alexander J AJ; Cade, William H WH; Cain, Melinda S MS; Campochiaro, Peter A PA; Chan, Chi-Chao CC; Cheng, Ching-Yu CY; Chew, Emily Y EY; Chin, Kimberly A KA; Chowers, Itay I; Clayton, David G DG; Cojocaru, Radu R; Conley, Yvette P YP; Cornes, Belinda K BK; Daly, Mark J MJ; Dhillon, Baljean B; Edwards, Albert O AO; Evangelou, Evangelos E; Fagerness, Jesen J; Ferreyra, Henry A HA; Friedman, James S JS; Geirsdottir, Asbjorg A; George, Ronnie J RJ; Gieger, Christian C; Gupta, Neel N; Hagstrom, Stephanie A SA; Harding, Simon P SP; Haritoglou, Christos C; Heckenlively, John R JR; Holz, Frank G FG; Hughes, Guy G; Ioannidis, John P A JP; Ishibashi, Tatsuro T; Joseph, Peronne P; Jun, Gyungah G; Kamatani, Yoichiro Y; Katsanis, Nicholas N; N Keilhauer, Claudia C; Khan, Jane C JC; Kim, Ivana K IK; Kiyohara, Yutaka Y; Klein, Barbara E K BE; Klein, Ronald R; Kovach, Jaclyn L JL; Kozak, Igor I; Lee, Clara J CJ; Lee, Kristine E KE; Lichtner, Peter P; Lotery, Andrew J AJ; Meitinger, Thomas T; Mitchell, Paul P; Mohand-Saïd, Saddek S; Moore, Anthony T AT; Morgan, Denise J DJ; Morrison, Margaux A MA; Myers, Chelsea E CE; Naj, Adam C AC; Nakamura, Yusuke Y; Okada, Yukinori Y; Orlin, Anton A; Ortube, M Carolina MC; Othman, Mohammad I MI; Pappas, Chris C; Park, Kyu Hyung KH; Pauer, Gayle J T GJ; Peachey, Neal S NS; Poch, Olivier O; Priya, Rinki Ratna RR; Reynolds, Robyn R; Richardson, Andrea J AJ; Ripp, Raymond R; Rudolph, Guenther G; Ryu, Euijung E; Sahel, José-Alain JA; Schaumberg, Debra A DA; Scholl, Hendrik P N HP; Schwartz, Stephen G SG; Scott, William K WK; Shahid, Humma H; Sigurdsson, Haraldur H; Silvestri, Giuliana G; Sivakumaran, Theru A TA; Smith, R Theodore RT; Sobrin, Lucia L; Souied, Eric H EH; Stambolian, Dwight E DE; Stefansson, Hreinn H; Sturgill-Short, Gwen M GM; Takahashi, Atsushi A; Tosakulwong, Nirubol N; Truitt, Barbara J BJ; Tsironi, Evangelia E EE; Uitterlinden, André G AG; van Duijn, Cornelia M CM; Vijaya, Lingam L; Vingerling, Johannes R JR; Vithana, Eranga N EN; Webster, Andrew R AR; Wichmann, H-Erich HE; Winkler, Thomas W TW; Wong, Tien Y TY; Wright, Alan F AF; Zelenika, Diana D; Zhang, Ming M; Zhao, Ling L; Zhang, Kang K; Klein, Michael L ML; Hageman, Gregory S GS; Lathrop, G Mark GM; Stefansson, Kari K; Allikmets, Rando R; Baird, Paul N PN; Gorin, Michael B MB; Wang, Jie Jin JJ; Klaver, Caroline C W CC; Seddon, Johanna M JM; Pericak-Vance, Margaret A MA; Iyengar, Sudha K SK; Yates, John R W JR; Swaroop, Anand A; Weber, Bernhard H F BH; Kubo, Michiaki M; Deangelis, Margaret M MM; Léveillard, Thierry T; Thorsteinsdottir, Unnur U; Haines, Jonathan L JL; Farrer, Lindsay A LA; Heid, Iris M IM; Abecasis, Gonçalo R GR; ,

Publication Date: 2013-04

Variant appearance in text: rs9542236

PubMed Link: 23455636

Variant Present in the following documents:

• Main text
• NIHMS474886-supplement-1.pdf
• nihms474886.pdf

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Genetic studies of age-related macular degeneration: lessons, challenges, and opportunities for disease management.

Ophthalmology

Priya, Rinki Ratna RR; Chew, Emily Y EY; Swaroop, Anand A

Publication Date: 2012-12

Variant appearance in text: rs9542236

PubMed Link: 23009893

Variant Present in the following documents:

• Main text

View BVdb publication page

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