Publications:

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The metabolic genomic atlas reveals potential drivers and clinically relevant insights into the etiology of esophageal squamous cell carcinoma.

Theranostics

Liu, Xuesong X; Hong, Ruoxi R; Du, Peina P; Yang, Di D; He, Meibo M; Wu, Qingnan Q; Li, Lin L; Wang, Yan Y; Chen, Jie J; Min, Qingjie Q; Li, Jinting J; Zhang, Weimin W; Zhan, Qimin Q

Publication Date: 2022

Variant appearance in text: TYR: 1147G>A; D383N

PubMed Link: 36168622

Variant Present in the following documents:

• thnov12p6160s2.xlsx, sheet 2

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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: TYR: 1147G>A; Asp383Asn

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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Clinical and Mutation Spectrum of Autosomal Recessive Non-Syndromic Oculocutaneous Albinism (nsOCA) in Pakistan: A Review.

Genes

Ullah, Muhammad Ikram MI

Publication Date: 2022-06-16

Variant appearance in text: TYR: 1147G>A

PubMed Link: 35741834

Variant Present in the following documents:

• genes-13-01072.pdf

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Comparison of Cone Mosaic Metrics From Images Acquired With the SPECTRALIS High Magnification Module and Adaptive Optics Scanning Light Ophthalmoscopy.

Translational Vision Science & Technology

Wynne, Niamh N; Heitkotter, Heather H; Woertz, Erica N EN; Cooper, Robert F RF; Carroll, Joseph J

Publication Date: 2022-05-02

Variant appearance in text: TYR: 1147G>A

PubMed Link: 35583887

Variant Present in the following documents:

• Main text
• tvst-11-5-19.pdf

View BVdb publication page

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New Prognostic Biomarkers and Drug Targets for Skin Cutaneous Melanoma via Comprehensive Bioinformatic Analysis and Validation.

Frontiers In Oncology

Zhou, Sitong S; Han, Yuanyuan Y; Li, Jiehua J; Pi, Xiaobing X; Lyu, Jin J; Xiang, Shijian S; Zhou, Xinzhu X; Chen, Xiaodong X; Wang, Zhengguang Z; Yang, Ronghua R

Publication Date: 2021

Variant appearance in text: TYR: 1147G>A

PubMed Link: 34722301

Variant Present in the following documents:

• Table_3.xlsx, sheet 1

View BVdb publication page

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Massive parallel sequencing in individuals with multiple primary tumours reveals the benefit of re-analysis.

Hereditary Cancer In Clinical Practice

Wallander, Karin K; Thonberg, Håkan H; Nilsson, Daniel D; Tham, Emma E

Publication Date: 2021-10-28

Variant appearance in text: TYR: Asp383Asn

PubMed Link: 34711244

Variant Present in the following documents:

• Main text
• 13053_2021_Article_203.pdf

View BVdb publication page

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Aberrant visual population receptive fields in human albinism.

Journal Of Vision

Duwell, Ethan J EJ; Woertz, Erica N EN; Mathis, Jedidiah J; Carroll, Joseph J; DeYoe, Edgar A EA

Publication Date: 2021-05-03

Variant appearance in text: TYR: 1147G>A

PubMed Link: 34007988

Variant Present in the following documents:

• Main text
• jovi-21-5-19.pdf

View BVdb publication page

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Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.

Molecular Psychiatry

Jia, Xiaoming X; Goes, Fernando S FS; Locke, Adam E AE; Palmer, Duncan D; Wang, Weiqing W; Cohen-Woods, Sarah S; Genovese, Giulio G; Jackson, Anne U AU; Jiang, Chen C; Kvale, Mark M; Mullins, Niamh N; Nguyen, Hoang H; Pirooznia, Mehdi M; Rivera, Margarita M; Ruderfer, Douglas M DM; Shen, Ling L; Thai, Khanh K; Zawistowski, Matthew M; Zhuang, Yongwen Y; Abecasis, Gonçalo G; Akil, Huda H; Bergen, Sarah S; Burmeister, Margit M; Chapman, Sinéad S; DelaBastide, Melissa M; Juréus, Anders A; Kang, Hyun Min HM; Kwok, Pui-Yan PY; Li, Jun Z JZ; Levy, Shawn E SE; Monson, Eric T ET; Moran, Jennifer J; Sobell, Janet J; Watson, Stanley S; Willour, Virginia V; Zöllner, Sebastian S; Adolfsson, Rolf R; Blackwood, Douglas D; Boehnke, Michael M; Breen, Gerome G; Corvin, Aiden A; Craddock, Nick N; DiFlorio, Arianna A; Hultman, Christina M CM; Landen, Mikael M; Lewis, Cathryn C; McCarroll, Steven A SA; Richard McCombie, W W; McGuffin, Peter P; McIntosh, Andrew A; McQuillin, Andrew A; Morris, Derek D; Myers, Richard M RM; O'Donovan, Michael M; Ophoff, Roel R; Boks, Marco M; Kahn, Rene R; Ouwehand, Willem W; Owen, Michael M; Pato, Carlos C; Pato, Michele M; Posthuma, Danielle D; Potash, James B JB; Reif, Andreas A; Sklar, Pamela P; Smoller, Jordan J; Sullivan, Patrick F PF; Vincent, John J; Walters, James J; Neale, Benjamin B; Purcell, Shaun S; Risch, Neil N; Schaefer, Catherine C; Stahl, Eli A EA; Zandi, Peter P PP; Scott, Laura J LJ

Publication Date: 2021-09

Variant appearance in text: TYR: D383N

PubMed Link: 33483695

Variant Present in the following documents:

• 41380_2020_1006_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

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Dynamic analysis of human tyrosinase intra-melanosomal domain and mutant variants to further understand oculocutaneous albinism type 1.

Journal Of Analytical & Pharmaceutical Research

Farney, S Katie SK; Dolinska, Monika B MB; Sergeev, Yuri V YV

Publication Date: 2018

Variant appearance in text: OCAIA: D383N

PubMed Link: 30868138

Variant Present in the following documents:

• Main text
• nihms-1008828.pdf

View BVdb publication page

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: TYR: D383N

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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The Henle Fiber Layer in Albinism: Comparison to Normal and Relationship to Outer Nuclear Layer Thickness and Foveal Cone Density.

Investigative Ophthalmology & Visual Science

Lee, Daniel J DJ; Woertz, Erica N EN; Visotcky, Alexis A; Wilk, Melissa A MA; Heitkotter, Heather H; Linderman, Rachel E RE; Tarima, Sergey S; Summers, C Gail CG; Brooks, Brian P BP; Brilliant, Murray H MH; Antony, Bhavna J BJ; Lujan, Brandon J BJ; Carroll, Joseph J

Publication Date: 2018-11-01

Variant appearance in text: TYR: 1147G>A; D383N

PubMed Link: 30398625

Variant Present in the following documents:

• i1552-5783-59-13-5336.pdf

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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: TYR: 1147G>A; rs121908011

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Comprehensive genomic analysis of Oesophageal Squamous Cell Carcinoma reveals clinical relevance.

Scientific Reports

Du, Peina P; Huang, Peide P; Huang, Xuanlin X; Li, Xiangchun X; Feng, Zhimin Z; Li, Fengyu F; Liang, Shaoguang S; Song, Yongmei Y; Stenvang, Jan J; Brünner, Nils N; Yang, Huanming H; Ou, Yunwei Y; Gao, Qiang Q; Li, Lin L

Publication Date: 2017-11-10

Variant appearance in text: TYR: 1147G>A; D383N

PubMed Link: 29127303

Variant Present in the following documents:

• 41598_2017_14909_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: TYR: 1147G>A; Asp383Asn

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Retrospective analysis in oculocutaneous albinism patients for the 2.7 kb deletion in the OCA2 gene revealed a co-segregation of the controversial variant, p.R305W.

Cell & Bioscience

Gao, Jackson J; D'Souza, Leera L; Wetherby, Keith K; Antolik, Christian C; Reeves, Melissa M; Adams, David R DR; Tumminia, Santa S; Wang, Xinjing X

Publication Date: 2017

Variant appearance in text: TYR: 1147G>A

PubMed Link: 28451379

Variant Present in the following documents:

• Main text
• 13578_2017_Article_149.pdf

View BVdb publication page

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Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population.

Scientific Reports

Shahzad, Mohsin M; Yousaf, Sairah S; Waryah, Yar M YM; Gul, Hadia H; Kausar, Tasleem T; Tariq, Nabeela N; Mahmood, Umair U; Ali, Muhammad M; Khan, Muzammil A MA; Waryah, Ali M AM; Shaikh, Rehan S RS; Riazuddin, Saima S; Ahmed, Zubair M ZM; ,

Publication Date: 2017-03-07

Variant appearance in text: TYR: 1147G>A

PubMed Link: 28266639

Variant Present in the following documents:

• Main text
• srep44185.pdf
• srep44185-s1.pdf

View BVdb publication page

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Genomic analyses reveal FAM84B and the NOTCH pathway are associated with the progression of esophageal squamous cell carcinoma.

Gigascience

Cheng, Caixia C; Cui, Heyang H; Zhang, Ling L; Jia, Zhiwu Z; Song, Bin B; Wang, Fang F; Li, Yaoping Y; Liu, Jing J; Kong, Pengzhou P; Shi, Ruyi R; Bi, Yanghui Y; Yang, Bin B; Wang, Juan J; Zhao, Zhenxiang Z; Zhang, Yanyan Y; Hu, Xiaoling X; Yang, Jie J; He, Chanting C; Zhao, Zhiping Z; Wang, Jinfen J; Xi, Yanfeng Y; Xu, Enwei E; Li, Guodong G; Guo, Shiping S; Chen, Yunqing Y; Yang, Xiaofeng X; Chen, Xing X; Liang, Jianfang J; Guo, Jiansheng J; Cheng, Xiaolong X; Wang, Chuangui C; Zhan, Qimin Q; Cui, Yongping Y

Publication Date: 2016

Variant appearance in text: TYR: 1147G>A; D383N

PubMed Link: 26759717

Variant Present in the following documents:

• 13742_2015_107_MOESM11_ESM.xlsx, sheet 1

View BVdb publication page

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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: OCA1A: D383N

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: TYR: D383N

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

View BVdb publication page

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Genomic analyses reveal mutational signatures and frequently altered genes in esophageal squamous cell carcinoma.

American Journal Of Human Genetics

Zhang, Ling L; Zhou, Yong Y; Cheng, Caixia C; Cui, Heyang H; Cheng, Le L; Kong, Pengzhou P; Wang, Jiaqian J; Li, Yin Y; Chen, Wenliang W; Song, Bin B; Wang, Fang F; Jia, Zhiwu Z; Li, Lin L; Li, Yaoping Y; Yang, Bin B; Liu, Jing J; Shi, Ruyi R; Bi, Yanghui Y; Zhang, Yanyan Y; Wang, Juan J; Zhao, Zhenxiang Z; Hu, Xiaoling X; Yang, Jie J; Li, Hongyi H; Gao, Zhibo Z; Chen, Gang G; Huang, Xuanlin X; Yang, Xukui X; Wan, Shengqing S; Chen, Chao C; Li, Bin B; Tan, Yongkai Y; Chen, Longyun L; He, Minghui M; Xie, Sha S; Li, Xiangchun X; Zhuang, Xuehan X; Wang, Mengyao M; Xia, Zhi Z; Luo, Longhai L; Ma, Jie J; Dong, Bing B; Zhao, Jiuzhou J; Song, Yongmei Y; Ou, Yunwei Y; Li, Enming E; Xu, Liyan L; Wang, Jinfen J; Xi, Yanfeng Y; Li, Guodong G; Xu, Enwei E; Liang, Jianfang J; Yang, Xiaofeng X; Guo, Jiansheng J; Chen, Xing X; Zhang, Yanbo Y; Li, Qingshan Q; Liu, Lixin L; Li, Yingrui Y; Zhang, Xiuqing X; Yang, Huanming H; Lin, Dongxin D; Cheng, Xiaolong X; Guo, Yongjun Y; Wang, Jun J; Zhan, Qimin Q; Cui, Yongping Y

Publication Date: 2015-04-02

Variant appearance in text: TYR: 1147G>A; D383N

PubMed Link: 25839328

Variant Present in the following documents:

• mmc4.xlsx, sheet 1

View BVdb publication page

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Mutation spectrum of the TYR and SLC45A2 genes in patients with oculocutaneous albinism.

Molecular Medicine Reports

Ko, Jung Min JM; Yang, Jung-Ah JA; Jeong, Seon-Yong SY; Kim, Hyon-Ju HJ

Publication Date: 2012-04

Variant appearance in text: OCA1: 1147G>A

PubMed Link: 22294196

Variant Present in the following documents:

• Main text
• mmr-05-04-0943.pdf

View BVdb publication page

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Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type.

The Journal Of Investigative Dermatology

Hutton, Saunie M SM; Spritz, Richard A RA

Publication Date: 2008-10

Variant appearance in text: OCA1: 1147G>A

PubMed Link: 18463683

Variant Present in the following documents:

• Main text

View BVdb publication page

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