Publications:

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NGS-based targeted sequencing identified two novel variants in Southwestern Chinese families with oculocutaneous albinism.

Bmc Genomics

Xiao, Yuanyuan Y; Zhou, Cong C; Xie, Hanbing H; Huang, Shuang S; Wang, Jing J; Liu, Shanling S

Publication Date: 2022-04-29

Variant appearance in text: OCA2: N476D

PubMed Link: 35488210

Variant Present in the following documents:

• Main text
• 12864_2022_Article_8597.pdf

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Genetic analysis and prenatal diagnosis of 20 Chinese families with oculocutaneous albinism.

Journal Of Clinical Laboratory Analysis

Xu, Chenyang C; Xiang, Yanbao Y; Li, Huanzheng H; Xu, Yunzhi Y; Mao, Yijian Y; Zhou, Lili L; Xu, Xueqin X; Tang, Shaohua S

Publication Date: 2021-02

Variant appearance in text: OCA2: N476D

PubMed Link: 33124154

Variant Present in the following documents:

• Main text
• JCLA-35-e23647.pdf

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A new type of oculocutaneous albinism with a novel OCA2 mutation.

Yeungnam University Journal Of Medicine

Lee, Sang Yoon SY; Lee, Eun Joo EJ; Byun, Jun Chul JC; Jang, Kyung Mi KM; Kim, Sae Yoon SY; Hwang, Su-Kyeong SK

Publication Date: 2021-04

Variant appearance in text: OCA2: N476D

PubMed Link: 32741191

Variant Present in the following documents:

• Main text
• yujm-2020-00339.pdf

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: OCA2: 1426A>G; Asn476Asp

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

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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: 1426A>G; Asn476Asp

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

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Comprehensive analysis of spectral distribution of a large cohort of Chinese patients with non-syndromic oculocutaneous albinism facilitates genetic diagnosis.

Pigment Cell & Melanoma Research

Zhong, Zilin Z; Gu, Li L; Zheng, Xiujie X; Ma, Nengjun N; Wu, Zehua Z; Duan, Juan J; Zhang, Jun J; Chen, Jianjun J

Publication Date: 2019-09

Variant appearance in text: OCA2: 1426A>G; Asn476Asp

PubMed Link: 31077556

Variant Present in the following documents:

• Main text
• PCMR-32-672.pdf

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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: N476D

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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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: N476D

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

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Mutational Analysis of the TYR and OCA2 Genes in Four Chinese Families with Oculocutaneous Albinism.

Plos One

Wang, Yun Y; Wang, Zhi Z; Chen, Mengping M; Fan, Ning N; Yang, Jie J; Liu, Lu L; Wang, Ying Y; Liu, Xuyang X

Publication Date: 2015

Variant appearance in text: OCA2: 1426A>G; N476D

PubMed Link: 25919014

Variant Present in the following documents:

• Main text

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An intracellular anion channel critical for pigmentation.

Elife

Bellono, Nicholas W NW; Escobar, Iliana E IE; Lefkovith, Ariel J AJ; Marks, Michael S MS; Oancea, Elena E

Publication Date: 2014-12-16

Variant appearance in text: OCA2: N476D

PubMed Link: 25513726

Variant Present in the following documents:

• Main text
• elife04543.pdf

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