Publications:

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Identification of 12 OCA Cases in Chinese Population and Two Novel Variants.

Frontiers In Genetics

Zhong, Zilin Z; Zhou, Zheng Z; Chen, Jianjun J; Zhang, Jun J

Publication Date: 2022

Variant appearance in text: TYR: 832C>T

PubMed Link: 35923705

Variant Present in the following documents:

• Main text
• fgene-13-926511.pdf

View BVdb publication page

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Novel mutations of the USH2A gene cause Usher syndrome in five Chinese families.

Bmc Ophthalmology

Xing, Dongjun D; Yu, Rongguo R; Wang, Linni L; Hu, Liying L; Yang, Yang Y; Li, Chang C; Li, Zhiqing Z; Li, Xiaorong X

Publication Date: 2022-07-23

Variant appearance in text: TYR: 832C>T; R278X; rs62645904

PubMed Link: 35870892

Variant Present in the following documents:

• 12886_2022_2532_MOESM2_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: 832C>T

PubMed Link: 35741834

Variant Present in the following documents:

• genes-13-01072.pdf

View BVdb publication page

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Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies.

Orphanet Journal Of Rare Diseases

Bouzidi, Aymane A; Charoute, Hicham H; Charif, Majida M; Amalou, Ghita G; Kandil, Mostafa M; Barakat, Abdelhamid A; Lenaers, Guy G

Publication Date: 2022-05-12

Variant appearance in text: TYR: 832C>T; Arg278Ter

PubMed Link: 35551639

Variant Present in the following documents:

• 13023_2022_2340_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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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: TYR: R278*

PubMed Link: 35488210

Variant Present in the following documents:

• Main text
• 12864_2022_Article_8597.pdf

View BVdb publication page

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Delineating Novel and Known Pathogenic Variants in TYR, OCA2 and HPS-1 Genes in Eight Oculocutaneous Albinism (OCA) Pakistani Families.

Genes

Shakil, Muhammad M; Akbar, Abida A; Aisha, Nazish Mahmood NM; Hussain, Intzar I; Ullah, Muhammad Ikram MI; Atif, Muhammad M; Kaul, Haiba H; Amar, Ali A; Latif, Muhammad Zahid MZ; Qureshi, Muhammad Atif MA; Mahmood, Saqib S

Publication Date: 2022-03-12

Variant appearance in text: TYR: 832C>T

PubMed Link: 35328057

Variant Present in the following documents:

• Main text
• genes-13-00503.pdf

View BVdb publication page

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Prospective Study of the Phenotypic and Mutational Spectrum of Ocular Albinism and Oculocutaneous Albinism.

Genes

Chan, Hwei Wuen HW; Schiff, Elena R ER; Tailor, Vijay K VK; Malka, Samantha S; Neveu, Magella M MM; Theodorou, Maria M; Moosajee, Mariya M

Publication Date: 2021-03-30

Variant appearance in text: TYR: 832C>T

PubMed Link: 33808351

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic Causes of Oculocutaneous Albinism in Pakistani Population.

Genes

Sajid, Zureesha Z; Yousaf, Sairah S; Waryah, Yar M YM; Mughal, Tauqeer A TA; Kausar, Tasleem T; Shahzad, Mohsin M; Rao, Ali R AR; Abbasi, Ansar A AA; Shaikh, Rehan S RS; Waryah, Ali M AM; Riazuddin, Saima S; Ahmed, Zubair M ZM

Publication Date: 2021-03-28

Variant appearance in text: TYR: 832C>T

PubMed Link: 33800529

Variant Present in the following documents:

• Main text
• genes-12-00492.pdf

View BVdb publication page

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Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications

Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q

Publication Date: 2021-01-04

Variant appearance in text: TYR: 832C>T; R278*

PubMed Link: 33397889

Variant Present in the following documents:

• 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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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: TYR: R278*

PubMed Link: 33124154

Variant Present in the following documents:

• Main text
• JCLA-35-e23647.pdf

View BVdb publication page

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Identification and Computational Analysis of Novel TYR and SLC45A2 Gene Mutations in Pakistani Families With Identical Non-syndromic Oculocutaneous Albinism.

Frontiers In Genetics

Bibi, Nousheen N; Ullah, Asmat A; Darwesh, Lubna L; Khan, Waqas W; Khan, Tanzeela T; Ullah, Kalim K; Khan, Bushra B; Ahmad, Wasim W; ,

Publication Date: 2020

Variant appearance in text: TYR: 832C>T

PubMed Link: 32849781

Variant Present in the following documents:

• Main text

View BVdb publication page

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Molecular diagnostic challenges for non-retinal developmental eye disorders in the United Kingdom.

American Journal Of Medical Genetics. Part C, Seminars In Medical Genetics

Jackson, Daniel D; Malka, Samantha S; Harding, Philippa P; Palma, Juliana J; Dunbar, Hannah H; Moosajee, Mariya M

Publication Date: 2020-09

Variant appearance in text: TYR: 832C>T; Arg278*

PubMed Link: 32830442

Variant Present in the following documents:

• Main text
• AJMG-184-578.pdf

View BVdb publication page

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Review: Understanding Rare Genetic Diseases in Low Resource Regions Like Jammu and Kashmir - India.

Frontiers In Genetics

Angural, Arshia A; Spolia, Akshi A; Mahajan, Ankit A; Verma, Vijeshwar V; Sharma, Ankush A; Kumar, Parvinder P; Dhar, Manoj Kumar MK; Pandita, Kamal Kishore KK; Rai, Ekta E; Sharma, Swarkar S

Publication Date: 2020

Variant appearance in text: TYR: 832C>T

PubMed Link: 32425985

Variant Present in the following documents:

• Main text
• fgene-11-00415.pdf

View BVdb publication page

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Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Nature Communications

Akhavanfard, Sara S; Padmanabhan, Roshan R; Yehia, Lamis L; Cheng, Feixiong F; Eng, Charis C

Publication Date: 2020-05-05

Variant appearance in text: TYR: 832C>T; R278*

PubMed Link: 32371905

Variant Present in the following documents:

• 41467_2020_16067_MOESM23_ESM.xlsx, sheet 1

View BVdb publication page

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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: TYR: 832C>T; Arg278*; rs62645904

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

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Mutational Analysis of TYR, OCA2, and SLC45A2 Genes in Chinese Families with Oculocutaneous Albinism.

Molecular Genetics & Genomic Medicine

Lin, Ye Y; Chen, Xihui X; Yang, Ying Y; Che, Fengyu F; Zhang, Sijia S; Yuan, Lijuan L; Wu, Yuanming Y

Publication Date: 2019-07

Variant appearance in text: TYR: 832C>T

PubMed Link: 31199599

Variant Present in the following documents:

• Main text

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: TYR: 832C>T; Arg278Ter

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

View BVdb publication page

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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: OCA1: 832C>T

PubMed Link: 31077556

Variant Present in the following documents:

• Main text
• PCMR-32-672.pdf

View BVdb publication page

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Tyrosinase (TYR) gene sequencing and literature review reveals recurrent mutations and multiple population founder gene mutations as causative of oculocutaneous albinism (OCA) in Pakistani families.

Eye (London, England)

Shakil, Muhammad M; Harlalka, Gaurav V GV; Ali, Shamshad S; Lin, Siying S; D'Atri, Ilaria I; Hussain, Shabbir S; Nasir, Abdul A; Shahzad, Muhammad Aiman MA; Ullah, Muhammad Ikram MI; Self, Jay E JE; Baple, Emma L EL; Crosby, Andrew H AH; Mahmood, Saqib S

Publication Date: 2019-08

Variant appearance in text: TYR: 832C>T

PubMed Link: 30996339

Variant Present in the following documents:

• Main text

View BVdb publication page

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High-frequency actionable pathogenic exome variants in an average-risk cohort.

Cold Spring Harbor Molecular Case Studies

Rego, Shannon S; Dagan-Rosenfeld, Orit O; Zhou, Wenyu W; Sailani, M Reza MR; Limcaoco, Patricia P; Colbert, Elizabeth E; Avina, Monika M; Wheeler, Jessica J; Craig, Colleen C; Salins, Denis D; Röst, Hannes L HL; Dunn, Jessilyn J; McLaughlin, Tracey T; Steinmetz, Lars M LM; Bernstein, Jonathan A JA; Snyder, Michael P MP

Publication Date: 2018-12

Variant appearance in text: TYR: 832C>T; R278*

PubMed Link: 30487145

Variant Present in the following documents:

• supp_mcs.a003178_Supplemental_File_1.xlsx, sheet 1

View BVdb publication page

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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: 832C>T; rs62645904

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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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: 832C>T

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: 832C>T

PubMed Link: 28266639

Variant Present in the following documents:

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

View BVdb publication page

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Mutation analysis of a Chinese family with oculocutaneous albinism.

Oncotarget

Wang, Xiong X; Zhu, Yaowu Y; Shen, Na N; Peng, Jing J; Wang, Chunyu C; Liu, Haiyi H; Lu, Yanjun Y

Publication Date: 2016-12-20

Variant appearance in text: TYR: 832C>T

PubMed Link: 27829221

Variant Present in the following documents:

• Main text
• oncotarget-07-84981.pdf

View BVdb publication page

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Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing.

Bmc Medical Genomics

Gal, Moran M; Khermesh, Khen K; Barak, Michal M; Lin, Min M; Lahat, Hadas H; Reznik Wolf, Haike H; Lin, Michael M; Pras, Elon E; Levanon, Erez Y EY

Publication Date: 2016-05-13

Variant appearance in text: TYR: R278X

PubMed Link: 27175728

Variant Present in the following documents:

• 12920_2016_184_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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Patterns and functional implications of rare germline variants across 12 cancer types.

Nature Communications

Lu, Charles C; Xie, Mingchao M; Wendl, Michael C MC; Wang, Jiayin J; McLellan, Michael D MD; Leiserson, Mark D M MD; Huang, Kuan-Lin KL; Wyczalkowski, Matthew A MA; Jayasinghe, Reyka R; Banerjee, Tapahsama T; Ning, Jie J; Tripathi, Piyush P; Zhang, Qunyuan Q; Niu, Beifang B; Ye, Kai K; Schmidt, Heather K HK; Fulton, Robert S RS; McMichael, Joshua F JF; Batra, Prag P; Kandoth, Cyriac C; Bharadwaj, Maheetha M; Koboldt, Daniel C DC; Miller, Christopher A CA; Kanchi, Krishna L KL; Eldred, James M JM; Larson, David E DE; Welch, John S JS; You, Ming M; Ozenberger, Bradley A BA; Govindan, Ramaswamy R; Walter, Matthew J MJ; Ellis, Matthew J MJ; Mardis, Elaine R ER; Graubert, Timothy A TA; Dipersio, John F JF; Ley, Timothy J TJ; Wilson, Richard K RK; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Chen, Feng F; Johnson, Kimberly J KJ; Parvin, Jeffrey D JD; Ding, Li L

Publication Date: 2015-12-22

Variant appearance in text: TYR: R278*

PubMed Link: 26689913

Variant Present in the following documents:

• ncomms10086-s3.xlsx, sheet 1
• ncomms10086-s5.xlsx, sheet 1

View BVdb publication page

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Targeted Next-Generation Sequencing for Clinical Diagnosis of 561 Mendelian Diseases.

Plos One

Liu, Yanqiu Y; Wei, Xiaoming X; Kong, Xiangdong X; Guo, Xueqin X; Sun, Yan Y; Man, Jianfen J; Du, Lique L; Zhu, Hui H; Qu, Zelan Z; Tian, Ping P; Mao, Bing B; Yang, Yun Y

Publication Date: 2015

Variant appearance in text: TYR: 832C>T; R278*

PubMed Link: 26274329

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: TYR: 832C>T

PubMed Link: 25919014

Variant Present in the following documents:

• Main text
• pone.0125651.pdf

View BVdb publication page

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Tyrosinase gene mutations in the Chinese Han population with OCA1.

Genetics Research

Liu, Ning N; Kong, Xiang Dong XD; Shi, Hui Rong HR; Wu, Qing Hua QH; Jiang, Miao M

Publication Date: 2014-11-12

Variant appearance in text: OCA1: R278X

PubMed Link: 25577957

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mutational analysis of oculocutaneous albinism: a compact review.

Biomed Research International

Kamaraj, Balu B; Purohit, Rituraj R

Publication Date: 2014

Variant appearance in text: OCA1: R278X

PubMed Link: 25093188

Variant Present in the following documents:

• BMRI2014-905472.pdf

View BVdb publication page

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Genetic Analysis of Oculocutaneous Albinism Type1A (OCA1A) in an Iranian Family.

Iranian Journal Of Public Health

Pour-Jafari, H H; Zamanian, A A; Pour-Jafari, B B

Publication Date: 2010

Variant appearance in text: OCA1: R278X

PubMed Link: 23112997

Variant Present in the following documents:

• Main text
• ijph-39-100.pdf

View BVdb publication page

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Molecular genetic studies and delineation of the oculocutaneous albinism phenotype in the Pakistani population.

Orphanet Journal Of Rare Diseases

Jaworek, Thomas J TJ; Kausar, Tasleem T; Bell, Shannon M SM; Tariq, Nabeela N; Maqsood, Muhammad Imran MI; Sohail, Asma A; Ali, Muhmmmad M; Iqbal, Furhan F; Rasool, Shafqat S; Riazuddin, Saima S; Shaikh, Rehan S RS; Ahmed, Zubair M ZM

Publication Date: 2012-06-26

Variant appearance in text: TYR: 832C>T

PubMed Link: 22734612

Variant Present in the following documents:

• Main text

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: R278X

PubMed Link: 22294196

Variant Present in the following documents:

• Main text
• mmr-05-04-0943.pdf

View BVdb publication page

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Molecular and clinical characterization of albinism in a large cohort of Italian patients.

Investigative Ophthalmology & Visual Science

Gargiulo, Annagiusi A; Testa, Francesco F; Rossi, Settimio S; Di Iorio, Valentina V; Fecarotta, Simona S; de Berardinis, Teresa T; Iovine, Antonello A; Magli, Adriano A; Signorini, Sabrina S; Fazzi, Elisa E; Galantuomo, Maria Silvana MS; Fossarello, Maurizio M; Montefusco, Sandro S; Ciccodicola, Alfredo A; Neri, Alberto A; Macaluso, Claudio C; Simonelli, Francesca F; Surace, Enrico Maria EM

Publication Date: 2011-03

Variant appearance in text: TYR: 832C>T

PubMed Link: 20861488

Variant Present in the following documents:

• Main text

View BVdb publication page

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Spectrum of candidate gene mutations associated with Indian familial oculocutaneous and ocular albinism.

Molecular Vision

Renugadevi, Kathirvel K; Sil, Asim Kumar AK; Perumalsamy, Vijayalakshmi V; Sundaresan, Periasamy P

Publication Date: 2010-08-09

Variant appearance in text: TYR: 832C>T

PubMed Link: 20806075

Variant Present in the following documents:

• Main text
• mv-v16-1514.pdf

View BVdb publication page

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