Publications:

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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: MYOC: Y347Y; rs61730974

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

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GenePy - a score for estimating gene pathogenicity in individuals using next-generation sequencing data.

Bmc Bioinformatics

Mossotto, E E; Ashton, J J JJ; O'Gorman, L L; Pengelly, R J RJ; Beattie, R M RM; MacArthur, B D BD; Ennis, S S

Publication Date: 2019-05-16

Variant appearance in text: rs61730974

PubMed Link: 31096927

Variant Present in the following documents:

• Main text
• 12859_2019_Article_2877.pdf

View BVdb publication page

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Comprehensive sequencing of the myocilin gene in a selected cohort of severe primary open-angle glaucoma patients.

Scientific Reports

O'Gorman, Luke L; Cree, Angela J AJ; Ward, Daniel D; Griffiths, Helen L HL; Sood, Roshan R; Denniston, Alastair K AK; Self, Jay E JE; Ennis, Sarah S; Lotery, Andrew J AJ; Gibson, Jane J

Publication Date: 2019-02-28

Variant appearance in text: MYOC: Y347Y; rs61730974

PubMed Link: 30816137

Variant Present in the following documents:

• Main text
• 41598_2019_Article_38760.pdf

View BVdb publication page

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Molecular analysis of urothelial cancer cell lines for modeling tumor biology and drug response.

Oncogene

Nickerson, M L ML; Witte, N N; Im, K M KM; Turan, S S; Owens, C C; Misner, K K; Tsang, S X SX; Cai, Z Z; Wu, S S; Dean, M M; Costello, J C JC; Theodorescu, D D

Publication Date: 2017-01-05

Variant appearance in text: MYOC: Y347Y; rs61730974

PubMed Link: 27270441

Variant Present in the following documents:

• onc2016172x3.xls, sheet 3

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Genetic, Biochemical and Clinical Insights into Primary Congenital Glaucoma.

Journal Of Current Glaucoma Practice

Faiq, Muneeb M; Sharma, Reetika R; Dada, Rima R; Mohanty, Kuldeep K; Saluja, Daman D; Dada, Tanuj T

Publication Date: 2013

Variant appearance in text: MYOC: Y347Y

PubMed Link: 26997785

Variant Present in the following documents:

• Main text

View BVdb publication page

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Molecular Diagnostics and Genetic Counseling in Primary Congenital Glaucoma.

Journal Of Current Glaucoma Practice

Faiq, Muneeb M; Mohanty, Kuldeep K; Dada, Rima R; Dada, Tanuj T

Publication Date: 2013

Variant appearance in text: MYOC: Y347Y

PubMed Link: 26997777

Variant Present in the following documents:

• Main text
• jocgp-07-025.pdf

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Association of MYOC and APOE promoter polymorphisms and primary open-angle glaucoma: a meta-analysis.

International Journal Of Clinical And Experimental Medicine

Guo, Hui H; Li, Minghao M; Wang, Zhe Z; Liu, Qiji Q; Wu, Xinyi X

Publication Date: 2015

Variant appearance in text: MYOC: Y347Y

PubMed Link: 25932136

Variant Present in the following documents:

• Main text

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: MYOC: Y347Y; rs61730974

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Myocilin polymorphisms and primary open-angle glaucoma: a systematic review and meta-analysis.

Plos One

Cheng, Jin-Wei JW; Cheng, Shi-Wei SW; Ma, Xiao-Ye XY; Cai, Ji-Ping JP; Li, You Y; Lu, Guo-Cai GC; Wei, Rui-Li RL

Publication Date: 2012

Variant appearance in text: MYOC: Y347Y

PubMed Link: 23029558

Variant Present in the following documents:

• Main text
• pone.0046632.pdf

View BVdb publication page

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Low prevalence of myocilin mutations in an African American population with primary open-angle glaucoma.

Molecular Vision

Liu, Wenjing W; Liu, Yutao Y; Challa, Pratap P; Herndon, Leon W LW; Wiggs, Janey L JL; Girkin, Christopher A CA; Allingham, R Rand RR; Hauser, Michael A MA

Publication Date: 2012

Variant appearance in text: MYOC: Tyr347Tyr; rs61730974

PubMed Link: 22933836

Variant Present in the following documents:

• Main text

View BVdb publication page

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Novel and known MYOC exon 3 mutations in an admixed Peruvian primary open-angle glaucoma population.

Molecular Vision

Mendoza-Reinoso, Veronica V; Patil, Teja S TS; Guevara-Fujita, Maria L ML; Fernández, Silvia S; Vargas, Enrique E; Castillo-Herrera, Wilder W; Perez-Grossmann, Rodolfo R; Lizaraso-Caparó, Frank F; Richards, Julia E JE; Fujita, Ricardo R

Publication Date: 2012

Variant appearance in text: MYOC: Tyr347Tyr

PubMed Link: 22879734

Variant Present in the following documents:

• Main text

View BVdb publication page

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Myocilin mutations are not a major cause of primary congenital glaucoma in Iranian patients.

Journal Of Ophthalmic & Vision Research

Elahi, Elahe E; Narooie-Nejhad, Mehrnaz M; Suri, Fatemeh F; Yazdani, Shahin S

Publication Date: 2010-04

Variant appearance in text: MYOC: Y347Y

PubMed Link: 22737338

Variant Present in the following documents:

• Main text

View BVdb publication page

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Comprehensive analysis of myocilin variants in east Indian POAG patients.

Molecular Vision

Banerjee, Deblina D; Bhattacharjee, Ashima A; Ponda, Archisman A; Sen, Abhijit A; Ray, Kunal K

Publication Date: 2012

Variant appearance in text: MYOC: 1041T>C; Tyr347Tyr

PubMed Link: 22736945

Variant Present in the following documents:

• Main text

View BVdb publication page

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Myocilin mutations in black South Africans with POAG.

Molecular Vision

Whigham, Benjamin T BT; Williams, Susan E I SE; Liu, Yutao Y; Rautenbach, Robyn M RM; Carmichael, Trevor R TR; Wheeler, Joshua J; Ziskind, Ari A; Qin, Xuejun X; Schmidt, Silke S; Ramsay, Michele M; Hauser, Michael A MA; Allingham, R Rand RR

Publication Date: 2011-04-27

Variant appearance in text: MYOC: 1041T>C; Tyr347Tyr; rs61730974

PubMed Link: 21552496

Variant Present in the following documents:

• Main text
• mv-v17-1064.pdf

View BVdb publication page

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Polymorphisms in an intronic region of the myocilin gene associated with primary open-angle glaucoma--a possible role for alternate splicing.

Molecular Vision

Pandaranayaka, P J Eswari PJ; Prasanthi, N N; Kannabiran, N N; Rangachari, K K; Dhivya, M M; Krishnadas, Subbiah R SR; Sundaresan, P P; Krishnaswamy, S S

Publication Date: 2010-12-29

Variant appearance in text: MYOC: 1041T>C; Tyr347Tyr

PubMed Link: 21203411

Variant Present in the following documents:

• Main text

View BVdb publication page

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MYOC and FOXC1 gene analysis in primary congenital glaucoma.

Molecular Vision

Tanwar, Mukesh M; Kumar, Manoj M; Dada, Tanuj T; Sihota, Ramanjit R; Dada, Rima R

Publication Date: 2010-10-08

Variant appearance in text: MYOC: 1041T>C; Y347Y

PubMed Link: 21031026

Variant Present in the following documents:

• Main text

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Myocilin and optineurin coding variants in Hispanics of Mexican descent with POAG.

Journal Of Human Genetics

McDonald, Kristin K KK; Abramson, Karen K; Beltran, Marco A MA; Ramirez, Maria G MG; Alvarez, Miguel M; Ventura, Alice A; Santiago-Turla, Cecilia C; Schmidt, Silke S; Hauser, Michael A MA; Allingham, R Rand RR

Publication Date: 2010-10

Variant appearance in text: MYOC: Y347Y; rs61730974

PubMed Link: 20668460

Variant Present in the following documents:

• Main text
• nihms-217758.pdf

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Screening of CYP1B1 and MYOC in Moroccan families with primary congenital glaucoma: three novel mutations in CYP1B1.

Molecular Vision

Hilal, Latifa L; Boutayeb, Soraya S; Serrou, Aziza A; Refass-Buret, Loubna L; Shisseh, Hafsa H; Bencherifa, Fatiha F; El Mzibri, Mohammed M; Benazzouz, Bouchra B; Berraho, Amina A

Publication Date: 2010-07-02

Variant appearance in text: MYOC: Y347Y

PubMed Link: 20664688

Variant Present in the following documents:

• Main text

View BVdb publication page

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Multiple gene polymorphisms analysis revealed a different profile of genetic polymorphisms of primary open-angle glaucoma in northern Chinese.

Molecular Vision

Jia, Li-Yun LY; Tam, Pancy Oi-Sin PO; Chiang, Sylvia Wai-Yee SW; Ding, Ning N; Chen, Li Jia LJ; Yam, Gary Hin-Fai GH; Pang, Chi-Pui CP; Wang, Ning-Li NL

Publication Date: 2009

Variant appearance in text: MYOC: Y347Y

PubMed Link: 19145250

Variant Present in the following documents:

• Main text

View BVdb publication page

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Myocilin variations and familial glaucoma in Taxiarchis, a small Greek village.

Molecular Vision

Wirtz, Mary K MK; Konstas, Anastasios G P AG; Samples, John R JR; Kaltsos, Kostantinos K; Economou, Athanasios A; Dimopoulos, Antonios A; Georgiadou, Irene I; Petersen, Michael B MB

Publication Date: 2008-04-25

Variant appearance in text: MYOC: Tyr347Tyr

PubMed Link: 18449353

Variant Present in the following documents:

• Main text

View BVdb publication page

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Role of MYOC and OPTN sequence variations in Spanish patients with primary open-angle glaucoma.

Molecular Vision

Lopez-Martinez, Francisco F; Lopez-Garrido, Maria-Pilar MP; Sanchez-Sanchez, Francisco F; Campos-Mollo, Ezequiel E; Coca-Prados, Miguel M; Escribano, Julio J

Publication Date: 2007-06-14

Variant appearance in text: MYOC: Tyr347Tyr

PubMed Link: 17615537

Variant Present in the following documents:

• Main text

View BVdb publication page

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Role of CYP1B1, MYOC, OPTN, and OPTC genes in adult-onset primary open-angle glaucoma: predominance of CYP1B1 mutations in Indian patients.

Molecular Vision

Kumar, Arun A; Basavaraj, Manjunath G MG; Gupta, Santosh K SK; Qamar, Imteyaz I; Ali, Abdullah Mahmood AM; Bajaj, Vineeta V; Ramesh, T K TK; Prakash, D Ravi DR; Shetty, Jyoti S JS; Dorairaj, Syril K SK

Publication Date: 2007-04-30

Variant appearance in text: MYOC: Tyr347Tyr

PubMed Link: 17563717

Variant Present in the following documents:

• Main text

View BVdb publication page

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Myocilin mutations among primary open angle glaucoma patients of Kanyakumari district, South India.

Molecular Vision

Rose, Rajiv R; Karthikeyan, Muthusamy M; Anandan, Balakrishnan B; Jayaraman, Gopalswamy G

Publication Date: 2007-04-02

Variant appearance in text: MYOC: Tyr347Tyr

PubMed Link: 17417611

Variant Present in the following documents:

• Main text
• mv-v13-497.pdf

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Rapid mutation detection by the transgenomic wave analyser DHPLC identifies MYOC mutations in patients with ocular hypertension and/or open angle glaucoma.

The British Journal Of Ophthalmology

Cobb, C J CJ; Scott, G G; Swingler, R J RJ; Wilson, S S; Ellis, J J; MacEwen, C J CJ; McLean, W H I WH

Publication Date: 2002-02

Variant appearance in text: MYOC: Y347Y

PubMed Link: 11815346

Variant Present in the following documents:

• Main text

View BVdb publication page

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Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene.

American Journal Of Human Genetics

Vincent, Andrea L AL; Billingsley, Gail G; Buys, Yvonne Y; Levin, Alex V AV; Priston, Megan M; Trope, Graham G; Williams-Lyn, Donna D; Héon, Elise E

Publication Date: 2002-02

Variant appearance in text: MYOC: Tyr347Tyr

PubMed Link: 11774072

Variant Present in the following documents:

• Main text

View BVdb publication page

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