Publications:

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The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism.

Nature Communications

Michaud, Vincent V; Lasseaux, Eulalie E; Green, David J DJ; Gerrard, Dave T DT; Plaisant, Claudio C; , ; Fitzgerald, Tomas T; Birney, Ewan E; Arveiler, Benoît B; Black, Graeme C GC; Sergouniotis, Panagiotis I PI

Publication Date: 2022-07-08

Variant appearance in text: OCA2: 868A>G; Arg290Gly

PubMed Link: 35803923

Variant Present in the following documents:

• 41467_2022_31392_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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A small gene sequencing panel realises a high diagnostic rate in patients with congenital nystagmus following basic phenotyping.

Scientific Reports

O'Gorman, Luke L; Norman, Chelsea S CS; Michaels, Luke L; Newall, Tutte T; Crosby, Andrew H AH; Mattocks, Christopher C; Cree, Angela J AJ; Lotery, Andrew J AJ; Baple, Emma L EL; Ratnayaka, J Arjuna JA; Baralle, Diana D; Lee, Helena H; Osborne, Daniel D; Shawkat, Fatima F; Gibson, Jane J; Ennis, Sarah S; Self, Jay E JE

Publication Date: 2019-09-13

Variant appearance in text: OCA2: R290G

PubMed Link: 31519934

Variant Present in the following documents:

• 41598_2019_49368_MOESM1_ESM.pdf

View BVdb publication page

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A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine

Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y

Publication Date: 2019-07

Variant appearance in text: OCA2: 868A>G; Arg290Gly

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

View BVdb publication page

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: OCA2: 868A>G; R290G

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: OCA2: R290G

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: OCA2: R290G

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

View BVdb publication page

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A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation.

American Journal Of Human Genetics

Duffy, David L DL; Montgomery, Grant W GW; Chen, Wei W; Zhao, Zhen Zhen ZZ; Le, Lien L; James, Michael R MR; Hayward, Nicholas K NK; Martin, Nicholas G NG; Sturm, Richard A RA

Publication Date: 2007-02

Variant appearance in text: OCA2: Arg290Gly

PubMed Link: 17236130

Variant Present in the following documents:

• Main text

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MC1R mutations modify the classic phenotype of oculocutaneous albinism type 2 (OCA2).

American Journal Of Human Genetics

King, Richard A RA; Willaert, Rebecca K RK; Schmidt, Ramona M RM; Pietsch, Jacy J; Savage, Sarah S; Brott, Marcia J MJ; Fryer, James P JP; Summers, C Gail CG; Oetting, William S WS

Publication Date: 2003-09

Variant appearance in text: OCA2: R290G

PubMed Link: 12876664

Variant Present in the following documents:

• Main text

View BVdb publication page

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