Publications:

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Whole-genome sequencing in clinically diagnosed Charcot-Marie-Tooth disease undiagnosed by whole-exome sequencing.

Brain Communications

Kim, Young-Gon YG; Kwon, Hyemi H; Park, Jong-Ho JH; Nam, Soo Hyun SH; Ha, Changhee C; Shin, Sunghwan S; Heo, Won Young WY; Kim, Hye Jin HJ; Chung, Ki Wha KW; Jang, Ja-Hyun JH; Kim, Jong-Won JW; Choi, Byung-Ok BO

Publication Date: 2023

Variant appearance in text: ATP7B: Arg778Leu

PubMed Link: 37180992

Variant Present in the following documents:

• Main text
• fcad139.pdf

View BVdb publication page

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Molecular genetic screening of full-term small for gestational age.

Bmc Pediatrics

Zhang, Shuman S; Zhou, Lingna L; Zhang, Lin L; Wang, Yu Y; Wang, Huaiyan H

Publication Date: 2023-05-05

Variant appearance in text: ATP7B: 2333G>T; Arg778Leu

PubMed Link: 37147621

Variant Present in the following documents:

• 12887_2023_Article_4030.pdf

View BVdb publication page

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Clinical features and familial mutations in the coexistence of Wilson's disease and Alport syndrome: A case report.

Frontiers In Pediatrics

Wang, Ying Y; He, Qingnan Q; Dang, Xiqiang X; Wu, Xiaochuan X; Li, Xiaoyan X

Publication Date: 2023

Variant appearance in text: ATP7B: Arg778Leu

PubMed Link: 37063668

Variant Present in the following documents:

• Main text
• fped-11-1107280.pdf

View BVdb publication page

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Wilson's Disease-Genetic Puzzles with Diagnostic Implications.

Diagnostics (Basel, Switzerland)

Gromadzka, Grażyna G; Bendykowska, Maria M; Przybyłkowski, Adam A

Publication Date: 2023-03-29

Variant appearance in text: ATP7B: Arg778Leu

PubMed Link: 37046505

Variant Present in the following documents:

• Main text
• diagnostics-13-01287.pdf

View BVdb publication page

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Clinical application value of expanded carrier screening in the population of childbearing age.

European Journal Of Medical Research

Fang, Yuqin Y; Li, Jingran J; Zhang, Miaomiao M; Cheng, Yuan Y; Wang, Chaohong C; Zhu, Jiansheng J

Publication Date: 2023-04-08

Variant appearance in text: ATP7B: R778L

PubMed Link: 37031186

Variant Present in the following documents:

• Main text
• 40001_2023_Article_1112.pdf

View BVdb publication page

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Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study.

Frontiers In Genetics

Huang, Yanlin Y; Liu, Chang C; Ding, Hongke H; Wang, Yunan Y; Yu, Lihua L; Guo, Fangfang F; Li, Fake F; Shi, Xiaomei X; Zhang, Yan Y; Yin, Aihua A

Publication Date: 2023

Variant appearance in text: ATP7B: 2333G>T; Arg778Leu

PubMed Link: 36923788

Variant Present in the following documents:

• Table3.xlsx, sheet 1

View BVdb publication page

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Age and Serum Creatinine Can Differentiate Wilson Disease Patients with Pseudonormal Ceruloplasmin.

International Journal Of Clinical Practice

Chen, Lin L; Shi, Yongguang Y; Wang, Nan N; Lou, Zhuoqi Z; Pan, Liya L; Xu, Xiaolan X; Wu, Chensi C; Han, Yongzhu Y; Yang, Renmin R; Hu, Wenbin W; Ruan, Bing B

Publication Date: 2023

Variant appearance in text: ATP7B: R778L

PubMed Link: 36915635

Variant Present in the following documents:

• IJCLP2023-9344891.pdf

View BVdb publication page

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Clinical Characteristics, Genetic Features, and Long-Term Outcome of Wilson's Disease in a Taiwanese Population: An 11-Year Follow-Up Study.

Journal Of Movement Disorders

Fan, Sung-Pin SP; Kuo, Yih-Chih YC; Lee, Ni-Chung NC; Chien, Yin-Hsiu YH; Hwu, Wuh-Liang WL; Huang, Yu-Hsuan YH; Lin, Han-I HI; Tseng, Tai-Chung TC; Su, Tung-Hung TH; Tzeng, Shiou-Ru SR; Hsu, Chien-Ting CT; Chen, Huey-Ling HL; Lin, Chin-Hsien CH; Ni, Yen-Hsuan YH

Publication Date: 2023-03-06

Variant appearance in text: ATP7B: 2333G>T; Arg778Leu

PubMed Link: 36872857

Variant Present in the following documents:

• Main text
• jmd-22161.pdf

View BVdb publication page

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A multicenter prospective study of next-generation sequencing-based newborn screening for monogenic genetic diseases in China.

World Journal Of Pediatrics : Wjp

Yang, Ru-Lai RL; Qian, Gu-Ling GL; Wu, Ding-Wen DW; Miao, Jing-Kun JK; Yang, Xue X; Wu, Ben-Qing BQ; Yan, Ya-Qiong YQ; Li, Hai-Bo HB; Mao, Xin-Mei XM; He, Jun J; Shen, Huan H; Zou, Hui H; Xue, Shu-Yuan SY; Li, Xiao-Ze XZ; Niu, Ting-Ting TT; Xiao, Rui R; Zhao, Zheng-Yan ZY

Publication Date: 2023-02-27

Variant appearance in text: ATP7B: 2333G>T

PubMed Link: 36847978

Variant Present in the following documents:

• 12519_2022_Article_670.pdf

View BVdb publication page

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Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.

Frontiers In Oncology

Block, Timothy T; Zezulinski, Daniel D; Kaplan, David E DE; Lu, Jingqiao J; Zanine, Samantha S; Zhan, Tingting T; Doria, Cataldo C; Sayeed, Aejaz A

Publication Date: 2022

Variant appearance in text: rs28942074

PubMed Link: 36582804

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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Role of serum ceruloplasmin in the diagnosis of Wilson's disease: A large Chinese study.

Frontiers In Neurology

Yang, Yue Y; Hao, Wenjie W; Wei, Taohua T; Tang, LuLu L; Qian, Nannan N; Yang, Yulong Y; Xi, Hu H; Zhang, Shijie S; Yang, Wenming W

Publication Date: 2022

Variant appearance in text: ATP7B: R778L

PubMed Link: 36570465

Variant Present in the following documents:

• Main text
• fneur-13-1058642.pdf

View BVdb publication page

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Genome editing is induced in a binary manner in single human cells.

Iscience

Takahashi, Gou G; Kondo, Daiki D; Maeda, Minato M; Morishita, Yuji Y; Miyaoka, Yuichiro Y

Publication Date: 2022-12-22

Variant appearance in text: ATP7B: 2333G>T; R778L

PubMed Link: 36483018

Variant Present in the following documents:

• Main text
• main.pdf
• mmc1.pdf

View BVdb publication page

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Design, Optimization and Validation of the ARMS PCR Protocol for the Rapid Diagnosis of Wilson's Disease Using a Panel of 14 Common Mutations for the European Population.

Genes

Garbuz, Mikhail Maksimovich MM; Ovchinnikova, Anna Alexandrovna AA; Kumeiko, Vadim Vladimirovich VV

Publication Date: 2022-10-25

Variant appearance in text: ATP7B: 2333G>T; Arg778Leu

PubMed Link: 36360177

Variant Present in the following documents:

• Main text
• genes-13-01940.pdf

View BVdb publication page

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Laboratory and clinical evaluation of a microarray for the detection of ATP7B mutations in Wilson disease in China.

Journal Of Clinical Laboratory Analysis

Jia, Siyu S; Li, Xiaojin X; Zhang, Wei W; Zhang, Bei B; Wu, Zhen Z; Duan, Weijia W; Ou, Xiaojuan X; Zhou, Donghu D; Huang, Jian J

Publication Date: 2022-11

Variant appearance in text: ATP7B: 2333G>T; R778L

PubMed Link: 36253962

Variant Present in the following documents:

• Main text
• JCLA-36-e24735.pdf

View BVdb publication page

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Mutation spectrum of ATP7B gene in pediatric patients with Wilson disease in Vietnam.

Molecular Genetics And Metabolism Reports

Huong, Nguyen Thi Mai NTM; Hoa, Nguyen Pham Anh NPA; Ngoc, Ngo Diem ND; Mai, Nguyen Thi Phuong NTP; Yen, Pham Hai PH; Anh, Hoàng Thị Vân HTV; Hoa, Giang G; Dien, Tran Minh TM

Publication Date: 2022-06

Variant appearance in text: ATP7B: R778L

PubMed Link: 35782615

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.

Nature Communications

Cong, Pei-Kuan PK; Bai, Wei-Yang WY; Li, Jin-Chen JC; Yang, Meng-Yuan MY; Khederzadeh, Saber S; Gai, Si-Rui SR; Li, Nan N; Liu, Yu-Heng YH; Yu, Shi-Hui SH; Zhao, Wei-Wei WW; Liu, Jun-Quan JQ; Sun, Yi Y; Zhu, Xiao-Wei XW; Zhao, Pian-Pian PP; Xia, Jiang-Wei JW; Guan, Peng-Lin PL; Qian, Yu Y; Tao, Jian-Guo JG; Xu, Lin L; Tian, Geng G; Wang, Ping-Yu PY; Xie, Shu-Yang SY; Qiu, Mo-Chang MC; Liu, Ke-Qi KQ; Tang, Bei-Sha BS; Zheng, Hou-Feng HF

Publication Date: 2022-05-26

Variant appearance in text: ATP7B: 2333G>T; R778L; rs28942074

PubMed Link: 35618720

Variant Present in the following documents:

• 41467_2022_30526_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Molecular Genetic Screening of Neonatal Intensive Care Units: Hyperbilirubinemia as an Example.

The Application Of Clinical Genetics

Yang, Yuqi Y; Wang, Yu Y; Zhou, Lingna L; Long, Wei W; Yu, Bin B; Wang, Huaiyan H

Publication Date: 2022

Variant appearance in text: ATP7B: 2333G>T; Arg778Leu

PubMed Link: 35611242

Variant Present in the following documents:

• Main text
• tacg-15-39.pdf

View BVdb publication page

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Case Report: The First Reported Concurrence of Wilson Disease and Bilateral Retinitis Pigmentosa.

Frontiers In Medicine

Ye, Zifan Z; Jia, Xiuhua X; Liu, Xin X; Zhang, Qi Q; Wang, Kaijun K; Chen, Min M

Publication Date: 2022

Variant appearance in text: ATP7B: R778L

PubMed Link: 35573004

Variant Present in the following documents:

• Main text
• fmed-09-877752.pdf

View BVdb publication page

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Clinical and Genetic Analysis in Neurological Wilson's Disease Patients With Neurological Worsening Following Chelator Therapy.

Frontiers In Genetics

Hou, Haiman H; Chen, Dingbang D; Liu, Junxiu J; Feng, Li L; Zhang, Jiwei J; Liang, Xiuling X; Xu, Yuming Y; Li, Xunhua X

Publication Date: 2022

Variant appearance in text: ATP7B: 2333G>T; Arg778Leu

PubMed Link: 35444691

Variant Present in the following documents:

• Main text
• fgene-13-875694.pdf

View BVdb publication page

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Retinoids rescue ceruloplasmin secretion and alleviate oxidative stress in Wilson's disease-specific hepatocytes.

Human Molecular Genetics

Song, Dan D; Takahashi, Gou G; Zheng, Yun-Wen YW; Matsuo-Takasaki, Mami M; Li, Jingyue J; Takami, Miho M; An, Yuri Y; Hemmi, Yasuko Y; Miharada, Natsumi N; Fujioka, Tsuyoshi T; Noguchi, Michiya M; Nakajima, Takashi T; Saito, Megumu K MK; Nakamura, Yukio Y; Oda, Tatsuya T; Miyaoka, Yuichiro Y; Hayashi, Yohei Y

Publication Date: 2022-10-28

Variant appearance in text: ATP7B: R778L

PubMed Link: 35388883

Variant Present in the following documents:

• Main text
• ddac080.pdf
• supplementaryinformation-sd-yh_proof_ddac080.pdf

View BVdb publication page

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Identification of Germline Mutations in Upper Tract Urothelial Carcinoma With Suspected Lynch Syndrome.

Frontiers In Oncology

Guan, Bao B; Wang, Jie J; Li, Xuesong X; Lin, Lin L; Fang, Dong D; Kong, Wenwen W; Tian, Chuangyu C; Li, Juan J; Yang, Kunlin K; Han, Guanpeng G; Wu, Yucai Y; He, Yuhui Y; Peng, Yiji Y; Yu, Yanfei Y; He, Qun Q; He, Shiming S; Gong, Yanqing Y; Zhou, Liqun L; Tang, Qi Q

Publication Date: 2022

Variant appearance in text: ATP7B: 2333G>T; Arg778Leu

PubMed Link: 35372080

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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Wilson's Disease Update: An Indian Perspective.

Annals Of Indian Academy Of Neurology

Bhattacharya, Kalyan K; Thankappan, Bindu B

Publication Date: 2022

Variant appearance in text: ATP7B: Arg778Leu

PubMed Link: 35342245

Variant Present in the following documents:

• AIAN-25-43.pdf

View BVdb publication page

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Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese.

Npj Genomic Medicine

Chau, Jeffrey Fong Ting JFT; Yu, Mullin Ho Chung MHC; Chui, Martin Man Chun MMC; Yeung, Cyrus Chun Wing CCW; Kwok, Aaron Wing Cheung AWC; Zhuang, Xuehan X; Lee, Ryan R; Fung, Jasmine Lee Fong JLF; Lee, Mianne M; Mak, Christopher Chun Yu CCY; Ng, Nicole Ying Ting NYT; Chung, Claudia Ching Yan CCY; Chan, Marcus Chun Yin MCY; Tsang, Mandy Ho Yin MHY; Chan, Joshua Chun Ki JCK; Chan, Kelvin Yuen Kwong KYK; Kan, Anita Sik Yau ASY; Chung, Patrick Ho Yu PHY; Yang, Wanling W; Lee, So Lun SL; Chan, Godfrey Chi Fung GCF; Tam, Paul Kwong Hang PKH; Lau, Yu Lung YL; Yeung, Kit San KS; Chung, Brian Hon Yin BHY; Tang, Clara Sze Man CSM

Publication Date: 2022-03-21

Variant appearance in text: ATP7B: 2333G>T; Arg778Leu; rs28942074

PubMed Link: 35314707

Variant Present in the following documents:

• 41525_2022_287_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Clinical and genetic characterization of a large cohort of patients with Wilson's disease in China.

Translational Neurodegeneration

Zhang, Shijie S; Yang, Wenming W; Li, Xiang X; Pei, Pei P; Dong, Ting T; Yang, Yue Y; Zhang, Jing J

Publication Date: 2022-02-28

Variant appearance in text: ATP7B: 2333G>T

PubMed Link: 35220961

Variant Present in the following documents:

• Main text
• 40035_2022_Article_287.pdf

View BVdb publication page

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Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.

Orphanet Journal Of Rare Diseases

Huang, Xinwen X; Wu, Dingwen D; Zhu, Lin L; Wang, Wenjun W; Yang, Rulai R; Yang, Jianbin J; He, Qunyan Q; Zhu, Bingquan B; You, Ying Y; Xiao, Rui R; Zhao, Zhengyan Z

Publication Date: 2022-02-21

Variant appearance in text: ATP7B: 2333G>T

PubMed Link: 35193651

Variant Present in the following documents:

• 13023_2022_2231_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Wilson's Disease: First Report of Two Combined Mutational Variants in a Portuguese Patient.

European Journal Of Case Reports In Internal Medicine

Trindade, Miguel M; Carvalho, Joana J; Barosa, Mariana M; Serôdio, João J; Oliveira, Ricardo R; Furtado, Ana A; Favas, Catarina C; Alves, José Delgado JD

Publication Date: 2022

Variant appearance in text: ATP7B: R778L

PubMed Link: 35169583

Variant Present in the following documents:

• Main text
• 3141-1-26997-1-10-20220124.pdf

View BVdb publication page

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Wilson disease in children and young adults - State of the art.

Saudi Journal Of Gastroenterology : Official Journal Of The Saudi Gastroenterology Association

Chanpong, Atchariya A; Dhawan, Anil A

Publication Date: 2022

Variant appearance in text: ATP7B: R778L

PubMed Link: 35042319

Variant Present in the following documents:

• Main text
• SJG-28-21.pdf

View BVdb publication page

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Wilson's Disease Update: An Indian Perspective.

Annals Of Indian Academy Of Neurology

Kumar, Niraj N; Prashant, L K LK; Goyal, Vinay V

Publication Date: 2021

Variant appearance in text: ATP7B: Arg778Leu

PubMed Link: 35002122

Variant Present in the following documents:

• AIAN-24-652.pdf
• AIAN-24-652_Suppl1.pdf

View BVdb publication page

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CRISPR-targeted genome editing of human induced pluripotent stem cell-derived hepatocytes for the treatment of Wilson's disease.

Jhep Reports : Innovation In Hepatology

Wei, Rui R; Yang, Jiayin J; Cheng, Chi-Wa CW; Ho, Wai-In WI; Li, Na N; Hu, Yang Y; Hong, Xueyu X; Fu, Jian J; Yang, Bo B; Liu, Yuqing Y; Jiang, Lixiang L; Lai, Wing-Hon WH; Au, Ka-Wing KW; Tsang, Wai-Ling WL; Tse, Yiu-Lam YL; Ng, Kwong-Man KM; Esteban, Miguel A MA; Tse, Hung-Fat HF

Publication Date: 2022-01

Variant appearance in text: ATP7B: R778L

PubMed Link: 34877514

Variant Present in the following documents:

• Main text
• main.pdf
• mmc1.pdf

View BVdb publication page

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Wilson's Disease: An Update on the Diagnostic Workup and Management.

Journal Of Clinical Medicine

Kasztelan-Szczerbinska, Beata B; Cichoz-Lach, Halina H

Publication Date: 2021-10-30

Variant appearance in text: ATP7B: Arg778Leu

PubMed Link: 34768617

Variant Present in the following documents:

• Main text
• jcm-10-05097.pdf

View BVdb publication page

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Case Report: The Association of Wilson Disease in a Patient With Ataxia and GLUT-1 Deficiency.

Frontiers In Pediatrics

Diaz, Jenna J; Fonseca, Ashley G AG; Arboleda, Richard R; Frade, Alejandro A; Gennaro, Maria Pilar MP; Jayakar, Parul P; Schleifer, Paula P; Hernandez, Erick E

Publication Date: 2021

Variant appearance in text: ATP7B: R778L

PubMed Link: 34676189

Variant Present in the following documents:

• Main text
• fped-09-750593.pdf

View BVdb publication page

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Clinical Application of Whole Exome Sequencing for Monogenic Disorders in PICU of China.

Frontiers In Genetics

Liu, Yingchao Y; Hao, Chanjuan C; Li, Kechun K; Hu, Xuyun X; Gao, Hengmiao H; Zeng, Jiansheng J; Guo, Ruolan R; Liu, Jun J; Guo, Jun J; Li, Zheng Z; Qi, Zhan Z; Jia, Xinlei X; Li, Wei W; Qian, Suyun S

Publication Date: 2021

Variant appearance in text: ATP7B: 2333G>T; Arg778Leu

PubMed Link: 34539730

Variant Present in the following documents:

• Main text
• Table_1.xlsx, sheet 1

View BVdb publication page

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Mutation analysis of the ATP7B gene and genotype-phenotype correlation in Chinese patients with Wilson disease.

Bmc Gastroenterology

Li, Mingming M; Ma, Jing J; Wang, Wenlong W; Yang, Xu X; Luo, Kaizhong K

Publication Date: 2021-09-01

Variant appearance in text: ATP7B: 2333G>T; Arg778Leu

PubMed Link: 34470610

Variant Present in the following documents:

• Main text

View BVdb publication page

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Multimodal magnetic resonance imaging analysis in the characteristics of Wilson's disease: A case report and literature review.

Open Life Sciences

Wang, Yun Y; Jia, Zejin Z; Lyu, Yuelei Y; Dong, Qian Q; Li, Shujuan S; Hu, Wenli W

Publication Date: 2021

Variant appearance in text: ATP7B: 2333G>T; Arg778Leu

PubMed Link: 34458581

Variant Present in the following documents:

• Main text
• biol-2021-0071.pdf

View BVdb publication page

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Liver Failure of Wilson's Disease With Manifestations Similar to Porphyria and Uncommon ATP7B Gene Mutation: A Case Report and Literature Review.

Frontiers In Medicine

Zou, Ju J; Wang, Ying-Hao YH; Wang, Ling L; Chen, Ruo-Chan RC

Publication Date: 2021

Variant appearance in text: ATP7B: Arg778Leu

PubMed Link: 34381801

Variant Present in the following documents:

• fmed-08-702312.pdf

View BVdb publication page

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