Publications:

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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: 3053C>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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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: ATP7B: A1018V; rs371840514

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 12

View BVdb publication page

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A capillary electrophoresis-based multiplex PCR assay for expanded carrier screening in the eastern Han Chinese population.

Npj Genomic Medicine

Hu, Ping P; Tan, Jianxin J; Yu, Feng F; Shao, Binbin B; Zhang, Fang F; Zhang, Jingjing J; Lin, Yingchun Y; Tao, Tao T; Jiang, Lili L; Jiang, Zhengwen Z; Xu, Zhengfeng Z

Publication Date: 2022-01-25

Variant appearance in text: ATP7B: 3053C>T

PubMed Link: 35079019

Variant Present in the following documents:

• 41525_2021_280_MOESM1_ESM.pdf

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: 3053C>T; Ala1018Val

PubMed Link: 34470610

Variant Present in the following documents:

• Main text
• 12876_2021_Article_1911.pdf

View BVdb publication page

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The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine

Xiao, Qingyang Q; Lauschke, Volker M VM

Publication Date: 2021-06-02

Variant appearance in text: ATP7B: 3053C>T; Ala1018Val; rs371840514

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Tumor genomic, transcriptomic, and immune profiling characterizes differential response to first-line platinum chemotherapy in high grade serous ovarian cancer.

Cancer Medicine

Weberpals, Johanne I JI; Pugh, Trevor J TJ; Marco-Casanova, Paola P; Goss, Glenwood D GD; Andrews Wright, Natalie N; Rath, Prisni P; Torchia, Jonathon J; Fortuna, Alexander A; Jones, Gemma N GN; Roudier, Martine P MP; Bernard, Laurence L; Lo, Bryan B; Torti, Dax D; Leon, Alberto A; Marsh, Kayla K; Hodgson, Darren D; Duciaume, Marc M; Howat, William J WJ; Lukashchuk, Natalia N; Lazic, Stanley E SE; Whelan, Doreen D; Sekhon, Harmanjatinder S HS

Publication Date: 2021-05

Variant appearance in text: ATP7B: A1018V; rs371840514

PubMed Link: 33811746

Variant Present in the following documents:

• CAM4-10-3045-s001.xlsx, sheet 2

View BVdb publication page

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Direct Measurement of ATP7B Peptides Is Highly Effective in the Diagnosis of Wilson Disease.

Gastroenterology

Collins, Christopher J CJ; Yi, Fan F; Dayuha, Remwilyn R; Duong, Phi P; Horslen, Simon S; Camarata, Michelle M; Coskun, Ayse K AK; Houwen, Roderick H J RHJ; Pop, Tudor L TL; Zoller, Heinz H; Yoo, Han-Wook HW; Jung, Sung Won SW; Weiss, Karl H KH; Schilsky, Michael L ML; Ferenci, Peter P; Hahn, Si Houn SH

Publication Date: 2021-06

Variant appearance in text: ATP7B: A1018V

PubMed Link: 33640437

Variant Present in the following documents:

• Main text

View BVdb publication page

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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: ATP7B: 3053C>T; Ala1018Val; rs371840514

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

View BVdb publication page

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Genetic analysis of ATP7B in 102 south Indian families with Wilson disease.

Plos One

Singh, Nivedita N; Kallollimath, Pradeep P; Shah, Mohd Hussain MH; Kapoor, Saketh S; Bhat, Vishwanath Kumble VK; Viswanathan, Lakshminarayanapuram Gopal LG; Nagappa, Madhu M; Bindu, Parayil S PS; Taly, Arun B AB; Sinha, Sanjib S; Kumar, Arun A

Publication Date: 2019

Variant appearance in text: ATP7B: 3053C>T; Ala1018Val

PubMed Link: 31059521

Variant Present in the following documents:

• Main text
• pone.0215779.pdf
• pone.0215779.s001.pdf

View BVdb publication page

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Novel mutations found in the ATP7B gene in Chinese patients with Wilson's disease.

Molecular Genetics & Genomic Medicine

Qian, Zhiling Z; Cui, Xiongwei X; Huang, Yunli Y; Liu, Yanmin Y; Li, Ning N; Zheng, Sujun S; Jiang, Jun J; Cui, Shichang S

Publication Date: 2019-05

Variant appearance in text: ATP7B: 3053C>T; Ala1018Val

PubMed Link: 30884209

Variant Present in the following documents:

• Main text
• MGG3-7-e649.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: ATP7B: A1018V

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Pilot study of expanded carrier screening for 11 recessive diseases in China: results from 10,476 ethnically diverse couples.

European Journal Of Human Genetics : Ejhg

Zhao, Sumin S; Xiang, Jiale J; Fan, Chunna C; Asan, ; Shang, Xuan X; Zhang, Xinhua X; Chen, Yan Y; Zhu, Baosheng B; Cai, Wangwei W; Chen, Shaoke S; Cai, Ren R; Guo, Xiaoling X; Zhang, Chonglin C; Zhou, Yuqiu Y; Huang, Shuodan S; Liu, Yanhui Y; Chen, Biyan B; Yan, Shanhuo S; Chen, Yajun Y; Ding, Hongmei H; Guo, Fengyu F; Wang, Yaoshen Y; Zhong, Wenwei W; Zhu, Yaping Y; Wang, Yaling Y; Chen, Chao C; Li, Yun Y; Huang, Hui H; Mao, Mao M; Yin, Ye Y; Wang, Jian J; Yang, Huanming H; Xu, Xiangmin X; Sun, Jun J; Peng, Zhiyu Z

Publication Date: 2019-02

Variant appearance in text: ATP7B: 3053C>T

PubMed Link: 30275481

Variant Present in the following documents:

• 41431_2018_253_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

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Spectrum and Classification of ATP7B Variants in a Large Cohort of Chinese Patients with Wilson's Disease Guides Genetic Diagnosis.

Theranostics

Dong, Yi Y; Ni, Wang W; Chen, Wan-Jin WJ; Wan, Bo B; Zhao, Gui-Xian GX; Shi, Zhu-Qing ZQ; Zhang, Yue Y; Wang, Ning N; Yu, Long L; Xu, Jian-Feng JF; Wu, Zhi-Ying ZY

Publication Date: 2016

Variant appearance in text: ATP7B: 3053C>T; A1018V

PubMed Link: 27022412

Variant Present in the following documents:

• Main text
• thnov06p0638.pdf

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: ATP7B: A1018V

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4
• 12859_2015_673_MOESM2_ESM.xls, sheet 1

View BVdb publication page

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