Publications:

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Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.

Scientific Reports

Karali, Marianthi M; Testa, Francesco F; Di Iorio, Valentina V; Torella, Annalaura A; Zeuli, Roberta R; Scarpato, Margherita M; Romano, Francesca F; Onore, Maria Elena ME; Pizzo, Mariateresa M; Melillo, Paolo P; Brunetti-Pierri, Raffaella R; Passerini, Ilaria I; Pelo, Elisabetta E; Cremers, Frans P M FPM; Esposito, Gabriella G; Nigro, Vincenzo V; Simonelli, Francesca F; Banfi, Sandro S

Publication Date: 2022-12-02

Variant appearance in text: TYR: 346C>T; Arg116*

PubMed Link: 36460718

Variant Present in the following documents:

• 41598_2022_24636_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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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: 346C>T

PubMed Link: 35923705

Variant Present in the following documents:

• Main text
• fgene-13-926511.pdf

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Genetic analyses of Vietnamese patients with oculocutaneous albinism.

Journal Of Clinical Laboratory Analysis

Thuong, Ma Thi Huyen MTH; Anh, Luong Thi Lan LTL; Nhung, Vu Phuong VP; Ngoc, Tran Thi Bich TTB; Lan, Hoang Thu HT; Phuong, Doan Kim DK; Ha, Nguyen Hai NH; Van Hai, Nong N; Ton, Nguyen Dang ND

Publication Date: 2022-09

Variant appearance in text: OCA1: R116*; rs61753256

PubMed Link: 35870188

Variant Present in the following documents:

• Main text
• JCLA-36-e24625.pdf

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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: 346C>T; Arg116*

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: 346C>T

PubMed Link: 35741834

Variant Present in the following documents:

• genes-13-01072.pdf

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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: R116*

PubMed Link: 35488210

Variant Present in the following documents:

• Main text
• 12864_2022_Article_8597.pdf

View BVdb publication page

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Exome-Sequencing Identifies Novel Genes Associated with Recurrent Pregnancy Loss in a Chinese Cohort.

Frontiers In Genetics

Xiang, Huifen H; Wang, Chunyan C; Pan, Hong H; Hu, Qian Q; Wang, Ruyi R; Xu, Zuying Z; Li, Tengyan T; Su, Yezhou Y; Ma, Xu X; Cao, Yunxia Y; Wang, Binbin B

Publication Date: 2021

Variant appearance in text: TYR: R116X

PubMed Link: 34925444

Variant Present in the following documents:

• Main text
• fgene-12-746082.pdf

View BVdb publication page

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Exome-based investigation of the genetic basis of human pigmentary glaucoma.

Bmc Genomics

van der Heide, Carly C; Goar, Wes W; Meyer, Kacie J KJ; Alward, Wallace L M WLM; Boese, Erin A EA; Sears, Nathan C NC; Roos, Ben R BR; Kwon, Young H YH; DeLuca, Adam P AP; Siggs, Owen M OM; Gonzaga-Jauregui, Claudia C; Sheffield, Val C VC; Wang, Kai K; Stone, Edwin M EM; Mullins, Robert F RF; Anderson, Michael G MG; Fan, Bao Jian BJ; Ritch, Robert R; Craig, Jamie E JE; Wiggs, Janey L JL; Scheetz, Todd E TE; Fingert, John H JH

Publication Date: 2021-06-26

Variant appearance in text: TYR: Arg116Ter

PubMed Link: 34174832

Variant Present in the following documents:

• Main text
• 12864_2021_Article_7782.pdf

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: R116*

PubMed Link: 33124154

Variant Present in the following documents:

• Main text
• JCLA-35-e23647.pdf

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: 346C>T; Arg116*; rs61753256

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: 346C>T

PubMed Link: 31199599

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic analyses of oculocutaneous albinism types 1 and 2 with four novel mutations.

Bmc Medical Genetics

Yang, Qi Q; Yi, Sheng S; Li, Mengting M; Xie, Bobo B; Luo, Jinsi J; Wang, Jin J; Rong, Xiuliang X; Zhang, Qinle Q; Qin, Zailong Z; Hang, Limei L; Feng, Shihan S; Fan, Xin X

Publication Date: 2019-06-13

Variant appearance in text: OCA1: 346C>T

PubMed Link: 31196117

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: 346C>T; Arg116Ter

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: 346C>T

PubMed Link: 31077556

Variant Present in the following documents:

• Main text
• PCMR-32-672.pdf

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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: 346C>T

PubMed Link: 30996339

Variant Present in the following documents:

• Main text

View BVdb publication page

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OligoPVP: Phenotype-driven analysis of individual genomic information to prioritize oligogenic disease variants.

Scientific Reports

Boudellioua, Imane I; Kulmanov, Maxat M; Schofield, Paul N PN; Gkoutos, Georgios V GV; Hoehndorf, Robert R

Publication Date: 2018-10-02

Variant appearance in text: TYR: 346C>T

PubMed Link: 30279426

Variant Present in the following documents:

• 41598_2018_32876_MOESM1_ESM.pdf

View BVdb publication page

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Clinical utility of exome sequencing in individuals with large homozygous regions detected by chromosomal microarray analysis.

Bmc Medical Genetics

Prasad, Aparna A; Sdano, Matthew A MA; Vanzo, Rena J RJ; Mowery-Rushton, Patricia A PA; Serrano, Moises A MA; Hensel, Charles H CH; Wassman, E Robert ER

Publication Date: 2018-03-20

Variant appearance in text: TYR: 346C>T

PubMed Link: 29554876

Variant Present in the following documents:

• Main text
• 12881_2018_Article_555.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: 346C>T; rs61753256

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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Understanding mutational effects in digenic diseases.

Nucleic Acids Research

Gazzo, Andrea A; Raimondi, Daniele D; Daneels, Dorien D; Moreau, Yves Y; Smits, Guillaume G; Van Dooren, Sonia S; Lenaerts, Tom T

Publication Date: 2017-09-06

Variant appearance in text: TYR: R116*

PubMed Link: 28911095

Variant Present in the following documents:

• Main text

View BVdb publication page

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Delineating the genetic heterogeneity of OCA in Hungarian patients.

European Journal Of Medical Research

Fábos, Beáta B; Farkas, Katalin K; Tóth, Lola L; Sulák, Adrienn A; Tripolszki, Kornélia K; Tihanyi, Mariann M; Németh, Réka R; Vas, Krisztina K; Csoma, Zsanett Z; Kemény, Lajos L; Széll, Márta M; Nagy, Nikoletta N

Publication Date: 2017-06-19

Variant appearance in text: TYR: 346C>T

PubMed Link: 28629449

Variant Present in the following documents:

• Main text

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: 346C>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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Development and clinical utility of a novel diagnostic nystagmus gene panel using targeted next-generation sequencing.

European Journal Of Human Genetics : Ejhg

Thomas, Mervyn G MG; Maconachie, Gail DE G; Sheth, Viral V; McLean, Rebecca J RJ; Gottlob, Irene I

Publication Date: 2017-06

Variant appearance in text: TYR: 346C>T; Arg116Ter

PubMed Link: 28378818

Variant Present in the following documents:

• Main text
• ejhg201744a.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: R116X

PubMed Link: 25577957

Variant Present in the following documents:

• Main text

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: R116X

PubMed Link: 23112997

Variant Present in the following documents:

• Main text
• ijph-39-100.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: 346C>T

PubMed Link: 20861488

Variant Present in the following documents:

• Main text

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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: 346C>T

PubMed Link: 18463683

Variant Present in the following documents:

• Main text

View BVdb publication page

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