Publications:

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Asian Race and Primary Open-Angle Glaucoma: Where Do We Stand?

Journal Of Clinical Medicine

Belamkar, Aditya A; Harris, Alon A; Oddone, Francesco F; Verticchio Vercellin, Alice A; Fabczak-Kubicka, Anna A; Siesky, Brent B

Publication Date: 2022-04-28

Variant appearance in text: rs7916697

PubMed Link: 35566612

Variant Present in the following documents:

• jcm-11-02486.pdf

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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: rs7916697

PubMed Link: 33420045

Variant Present in the following documents:

• 41540_2020_161_MOESM3_ESM.xlsx, sheet 2

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: ATOH7: -419T>C; rs7916697

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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Highly diversified core promoters in the human genome and their effects on gene expression and disease predisposition.

Bmc Genomics

Gupta, Hemant H; Chandratre, Khyati K; Sinha, Siddharth S; Huang, Teng T; Wu, Xiaobing X; Cui, Jian J; Zhang, Michael Q MQ; Wang, San Ming SM

Publication Date: 2020-11-30

Variant appearance in text: ATOH7: -419T>C; rs7916697

PubMed Link: 33256598

Variant Present in the following documents:

• 12864_2020_7222_MOESM2_ESM.xlsx, sheet 3
• 12864_2020_7222_MOESM2_ESM.xlsx, sheet 4
• 12864_2020_7222_MOESM2_ESM.xlsx, sheet 2

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The Genetic and Endoplasmic Reticulum-Mediated Molecular Mechanisms of Primary Open-Angle Glaucoma.

International Journal Of Molecular Sciences

Rozpędek-Kamińska, Wioletta W; Wojtczak, Radosław R; Szaflik, Jacek P JP; Szaflik, Jerzy J; Majsterek, Ireneusz I

Publication Date: 2020-06-11

Variant appearance in text: rs7916697

PubMed Link: 32545285

Variant Present in the following documents:

• Main text
• ijms-21-04171.pdf

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: ATOH7: -419T>C; rs7916697

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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Association of endothelial nitric oxide synthase (NOS3) gene polymorphisms with primary open-angle glaucoma in a Saudi cohort.

Plos One

Kondkar, Altaf A AA; Azad, Taif A TA; Sultan, Tahira T; Osman, Essam A EA; Almobarak, Faisal A FA; Al-Obeidan, Saleh A SA

Publication Date: 2020

Variant appearance in text: rs7916697

PubMed Link: 31914149

Variant Present in the following documents:

• Main text
• pone.0227417.pdf

View BVdb publication page

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Lack of Association between Variant rs7916697 in ATOH7 and Primary Open Angle Glaucoma in a Saudi Cohort.

Genetics Research International

Kondkar, Altaf A AA; Azad, Taif A TA; Almobarak, Faisal A FA; Bahabri, Ibrahim M IM; Kalantan, Hatem H; Abu-Amero, Khaled K KK; Al-Obeidan, Saleh A SA

Publication Date: 2018

Variant appearance in text: rs7916697

PubMed Link: 30519491

Variant Present in the following documents:

• Main text

View BVdb publication page

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Lack of Association of rs1192415 in TGFBR3-CDC7 With Visual Field Progression: A Cohort Study in Chinese Open Angle Glaucoma Patients.

Frontiers In Genetics

Chen, Yuhong Y; Qiu, Chen C; Qian, Shaohong S; Chen, Junyi J; Chen, Xueli X; Wang, Li L; Sun, Xinghuai X

Publication Date: 2018

Variant appearance in text: rs7916697

PubMed Link: 30405695

Variant Present in the following documents:

• Main text
• fgene-09-00488.pdf

View BVdb publication page

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Genetic Risk Score Is Associated with Vertical Cup-to-Disc Ratio and Improves Prediction of Primary Open-Angle Glaucoma in Latinos.

Ophthalmology

Nannini, Drew R DR; Kim, Heejin H; Fan, Fangda F; Gao, Xiaoyi X

Publication Date: 2018-06

Variant appearance in text: rs7916697

PubMed Link: 29361357

Variant Present in the following documents:

• Main text

View BVdb publication page

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Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget

Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH

Publication Date: 2017-11-10

Variant appearance in text: ATOH7: -419T>C; rs7916697

PubMed Link: 29221171

Variant Present in the following documents:

• oncotarget-08-95841-s002.xlsx, sheet 4

View BVdb publication page

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New insights into the genetics of primary open-angle glaucoma based on meta-analyses of intraocular pressure and optic disc characteristics.

Human Molecular Genetics

Springelkamp, Henriët H; Iglesias, Adriana I AI; Mishra, Aniket A; Höhn, René R; Wojciechowski, Robert R; Khawaja, Anthony P AP; Nag, Abhishek A; Wang, Ya Xing YX; Wang, Jie Jin JJ; Cuellar-Partida, Gabriel G; Gibson, Jane J; Bailey, Jessica N Cooke JN; Vithana, Eranga N EN; Gharahkhani, Puya P; Boutin, Thibaud T; Ramdas, Wishal D WD; Zeller, Tanja T; Luben, Robert N RN; Yonova-Doing, Ekaterina E; Viswanathan, Ananth C AC; Yazar, Seyhan S; Cree, Angela J AJ; Haines, Jonathan L JL; Koh, Jia Yu JY; Souzeau, Emmanuelle E; Wilson, James F JF; Amin, Najaf N; Müller, Christian C; Venturini, Cristina C; Kearns, Lisa S LS; Kang, Jae Hee JH; , ; Tham, Yih Chung YC; Zhou, Tiger T; van Leeuwen, Elisabeth M EM; Nickels, Stefan S; Sanfilippo, Paul P; Liao, Jiemin J; van der Linde, Herma H; Zhao, Wanting W; van Koolwijk, Leonieke M E LM; Zheng, Li L; Rivadeneira, Fernando F; Baskaran, Mani M; van der Lee, Sven J SJ; Perera, Shamira S; de Jong, Paulus T V M PT; Oostra, Ben A BA; Uitterlinden, André G AG; Fan, Qiao Q; Hofman, Albert A; Tai, E-Shyong ES; Vingerling, Johannes R JR; Sim, Xueling X; Wolfs, Roger C W RC; Teo, Yik Ying YY; Lemij, Hans G HG; Khor, Chiea Chuen CC; Willemsen, Rob R; Lackner, Karl J KJ; Aung, Tin T; Jansonius, Nomdo M NM; Montgomery, Grant G; Wild, Philipp S PS; Young, Terri L TL; Burdon, Kathryn P KP; Hysi, Pirro G PG; Pasquale, Louis R LR; Wong, Tien Yin TY; Klaver, Caroline C W CC; Hewitt, Alex W AW; Jonas, Jost B JB; Mitchell, Paul P; Lotery, Andrew J AJ; Foster, Paul J PJ; Vitart, Veronique V; Pfeiffer, Norbert N; Craig, Jamie E JE; Mackey, David A DA; Hammond, Christopher J CJ; Wiggs, Janey L JL; Cheng, Ching-Yu CY; van Duijn, Cornelia M CM; MacGregor, Stuart S

Publication Date: 2017-01-15

Variant appearance in text: rs7916697

PubMed Link: 28073927

Variant Present in the following documents:

• Main text

View BVdb publication page

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A Genome-Wide Association Study of Vertical Cup-Disc Ratio in a Latino Population.

Investigative Ophthalmology & Visual Science

Nannini, Drew R DR; Torres, Mina M; Chen, Yii-Der I YI; Taylor, Kent D KD; Rotter, Jerome I JI; Varma, Rohit R; Gao, Xiaoyi X

Publication Date: 2017-01-01

Variant appearance in text: rs7916697

PubMed Link: 28061514

Variant Present in the following documents:

• Main text
• i1552-5783-58-1-87.pdf

View BVdb publication page

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Glaucoma Risk Alleles in the Ocular Hypertension Treatment Study.

Ophthalmology

Scheetz, Todd E TE; Faga, Ben B; Ortega, Lizette L; Roos, Ben R BR; Gordon, Mae O MO; Kass, Michael A MA; Wang, Kai K; Fingert, John H JH

Publication Date: 2016-12

Variant appearance in text: rs7916697

PubMed Link: 27707548

Variant Present in the following documents:

• Main text

View BVdb publication page

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An Updated Review on the Genetics of Primary Open Angle Glaucoma.

International Journal Of Molecular Sciences

Abu-Amero, Khaled K; Kondkar, Altaf A AA; Chalam, Kakarla V KV

Publication Date: 2015-12-04

Variant appearance in text: rs7916697

PubMed Link: 26690118

Variant Present in the following documents:

• Main text
• ijms-16-26135.pdf

View BVdb publication page

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Genetic association of SNPs near ATOH7, CARD10, CDKN2B, CDC7 and SIX1/SIX6 with the endophenotypes of primary open angle glaucoma in Indian population.

Plos One

Philomenadin, Ferdinamarie Sharmila FS; Asokan, Rashima R; N, Viswanathan V; George, Ronnie R; Lingam, Vijaya V; Sarangapani, Sripriya S

Publication Date: 2015

Variant appearance in text: rs7916697

PubMed Link: 25798827

Variant Present in the following documents:

• Main text
• pone.0119703.pdf

View BVdb publication page

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Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process.

Nature Communications

Springelkamp, Henriët H; Höhn, René R; Mishra, Aniket A; Hysi, Pirro G PG; Khor, Chiea-Chuen CC; Loomis, Stephanie J SJ; Bailey, Jessica N Cooke JN; Gibson, Jane J; Thorleifsson, Gudmar G; Janssen, Sarah F SF; Luo, Xiaoyan X; Ramdas, Wishal D WD; Vithana, Eranga E; Nongpiur, Monisha E ME; Montgomery, Grant W GW; Xu, Liang L; Mountain, Jenny E JE; Gharahkhani, Puya P; Lu, Yi Y; Amin, Najaf N; Karssen, Lennart C LC; Sim, Kar-Seng KS; van Leeuwen, Elisabeth M EM; Iglesias, Adriana I AI; Verhoeven, Virginie J M VJ; Hauser, Michael A MA; Loon, Seng-Chee SC; Despriet, Dominiek D G DD; Nag, Abhishek A; Venturini, Cristina C; Sanfilippo, Paul G PG; Schillert, Arne A; Kang, Jae H JH; Landers, John J; Jonasson, Fridbert F; Cree, Angela J AJ; van Koolwijk, Leonieke M E LM; Rivadeneira, Fernando F; Souzeau, Emmanuelle E; Jonsson, Vesteinn V; Menon, Geeta G; , ; Weinreb, Robert N RN; de Jong, Paulus T V M PT; Oostra, Ben A BA; Uitterlinden, André G AG; Hofman, Albert A; Ennis, Sarah S; Thorsteinsdottir, Unnur U; Burdon, Kathryn P KP; , ; , ; Spector, Timothy D TD; Mirshahi, Alireza A; Saw, Seang-Mei SM; Vingerling, Johannes R JR; Teo, Yik-Ying YY; Haines, Jonathan L JL; Wolfs, Roger C W RC; Lemij, Hans G HG; Tai, E-Shyong ES; Jansonius, Nomdo M NM; Jonas, Jost B JB; Cheng, Ching-Yu CY; Aung, Tin T; Viswanathan, Ananth C AC; Klaver, Caroline C W CC; Craig, Jamie E JE; Macgregor, Stuart S; Mackey, David A DA; Lotery, Andrew J AJ; Stefansson, Kari K; Bergen, Arthur A B AA; Young, Terri L TL; Wiggs, Janey L JL; Pfeiffer, Norbert N; Wong, Tien-Yin TY; Pasquale, Louis R LR; Hewitt, Alex W AW; van Duijn, Cornelia M CM; Hammond, Christopher J CJ

Publication Date: 2014-09-22

Variant appearance in text: rs7916697

PubMed Link: 25241763

Variant Present in the following documents:

• ncomms5883-s1.pdf

View BVdb publication page

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Sequencing analysis of the ATOH7 gene in individuals with optic nerve hypoplasia.

Ophthalmic Genetics

Lim, Sing-Hui SH; St Germain, Elizabeth E; Tran-Viet, Khanh-Nhat KN; Staffieri, Sandra S; Marino, Meghan M; Dollfus, Pr Hélène PH; Nading, Erica B EB; Crowe, Sue S; Gole, Glen G; Perdomo-Trujillo, Yaumara Y; Haybittel, Michael M; Elder, James J; Pelletier, Valérie V; Traboulsi, Elias E; Mackey, David D; Young, Terri L TL

Publication Date: 2014-03

Variant appearance in text: rs7916697

PubMed Link: 23802135

Variant Present in the following documents:

• Main text

View BVdb publication page

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CDKN2B-AS1 genotype-glaucoma feature correlations in primary open-angle glaucoma patients from the United States.

American Journal Of Ophthalmology

Pasquale, Louis R LR; Loomis, Stephanie J SJ; Kang, Jae H JH; Yaspan, Brian L BL; Abdrabou, Wael W; Budenz, Donald L DL; Chen, Teresa C TC; Delbono, Elizabeth E; Friedman, David S DS; Gaasterland, Douglas D; Gaasterland, Terry T; Grosskreutz, Cynthia L CL; Lee, Richard K RK; Lichter, Paul R PR; Liu, Yutao Y; McCarty, Catherine A CA; Moroi, Sayoko E SE; Olson, Lana M LM; Realini, Tony T; Rhee, Douglas J DJ; Schuman, Joel S JS; Singh, Kuldev K; Vollrath, Douglas D; Wollstein, Gadi G; Zack, Donald J DJ; Allingham, R Rand RR; Pericak-Vance, Margaret A MA; Weinreb, Robert N RN; Zhang, Kang K; Hauser, Michael A MA; Richards, Julia E JE; Haines, Jonathan L JL; Wiggs, Janey L JL

Publication Date: 2013-02

Variant appearance in text: rs7916697

PubMed Link: 23111177

Variant Present in the following documents:

• Main text

View BVdb publication page

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CDKN2B polymorphism is associated with primary open-angle glaucoma (POAG) in the Afro-Caribbean population of Barbados, West Indies.

Plos One

Cao, Dan D; Jiao, Xiaodong X; Liu, Xing X; Hennis, Anselm A; Leske, M Cristina MC; Nemesure, Barbara B; Hejtmancik, J Fielding JF

Publication Date: 2012

Variant appearance in text: rs7916697

PubMed Link: 22761751

Variant Present in the following documents:

• Main text
• pone.0039278.pdf

View BVdb publication page

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Genetic variants associated with optic nerve vertical cup-to-disc ratio are risk factors for primary open angle glaucoma in a US Caucasian population.

Investigative Ophthalmology & Visual Science

Fan, Bao Jian BJ; Wang, Dan Yi DY; Pasquale, Louis R LR; Haines, Jonathan L JL; Wiggs, Janey L JL

Publication Date: 2011-03-28

Variant appearance in text: rs7916697

PubMed Link: 21398277

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genome-wide association identifies ATOH7 as a major gene determining human optic disc size.

Human Molecular Genetics

Macgregor, Stuart S; Hewitt, Alex W AW; Hysi, Pirro G PG; Ruddle, Jonathan B JB; Medland, Sarah E SE; Henders, Anjali K AK; Gordon, Scott D SD; Andrew, Toby T; McEvoy, Brian B; Sanfilippo, Paul G PG; Carbonaro, Francis F; Tah, Vikas V; Li, Yi Ju YJ; Bennett, Sonya L SL; Craig, Jamie E JE; Montgomery, Grant W GW; Tran-Viet, Khanh-Nhat KN; Brown, Nadean L NL; Spector, Timothy D TD; Martin, Nicholas G NG; Young, Terri L TL; Hammond, Christopher J CJ; Mackey, David A DA

Publication Date: 2010-07-01

Variant appearance in text: rs7916697

PubMed Link: 20395239

Variant Present in the following documents:

• Main text
• ddq144.pdf

View BVdb publication page

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