Publications:

---

Structure of the Wilson disease copper transporter ATP7B.

Science Advances

Bitter, Ryan M RM; Oh, SeCheol S; Deng, Zengqin Z; Rahman, Suhaila S; Hite, Richard K RK; Yuan, Peng P

Publication Date: 2022-03-04

Variant appearance in text: ATP7B: M645R

PubMed Link: 35245129

Variant Present in the following documents:

• sciadv.abl5508.pdf

View BVdb publication page

---

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: 1934T>G

PubMed Link: 35193651

Variant Present in the following documents:

• 13023_2022_2231_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

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: M645R; rs121907998

PubMed Link: 35115730

Variant Present in the following documents:

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

View BVdb publication page

---

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: Met645Arg

PubMed Link: 34768617

Variant Present in the following documents:

• Main text
• jcm-10-05097.pdf

View BVdb publication page

---

Identification of a novel TBX5 c.755 + 1 G > A variant and related pathogenesis in a family with Holt-Oram syndrome.

American Journal Of Medical Genetics. Part A

Wang, De-Gang DG; Dong, Xing-Sheng XS; Xiong, Yi Y; Li, Zhi-Ming ZM; Xie, Ying-Jun YJ; Liang, Shu-Hua SH; Huang, Tian-Hua TH

Publication Date: 2022-01

Variant appearance in text: ATP7B: 1934T>G; Met645Arg

PubMed Link: 34490705

Variant Present in the following documents:

• AJMG-188-58.pdf

View BVdb publication page

---

Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.

Bmc Medicine

Haverfield, Eden V EV; Esplin, Edward D ED; Aguilar, Sienna J SJ; Hatchell, Kathryn E KE; Ormond, Kelly E KE; Hanson-Kahn, Andrea A; Atwal, Paldeep S PS; Macklin-Mantia, Sarah S; Hines, Stephanie S; Sak, Caron W-M CW; Tucker, Steven S; Bleyl, Steven B SB; Hulick, Peter J PJ; Gordon, Ora K OK; Velsher, Lea L; Gu, Jessica Y J JYJ; Weissman, Scott M SM; Kruisselbrink, Teresa T; Abel, Christopher C; Kettles, Michele M; Slavotinek, Anne A; Mendelsohn, Bryce A BA; Green, Robert C RC; Aradhya, Swaroop S; Nussbaum, Robert L RL

Publication Date: 2021-08-18

Variant appearance in text: ATP7B: 1934T>G; Met645Arg

PubMed Link: 34404389

Variant Present in the following documents:

• 12916_2021_1999_MOESM2_ESM.pdf

View BVdb publication page

---

Investigation of the Wilson gene ATP7B transcriptional start site and the effect of core promoter alterations.

Scientific Reports

Höflich, Clemens C; Brieger, Angela A; Zeuzem, Stefan S; Plotz, Guido G

Publication Date: 2021-04-07

Variant appearance in text: ATP7B: Met645Arg

PubMed Link: 33828154

Variant Present in the following documents:

• Main text
• 41598_2021_Article_87000.pdf

View BVdb publication page

---

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: M645R

PubMed Link: 33640437

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: e-Posters.

European Journal Of Human Genetics : Ejhg

Publication Date: 2020-12

Variant appearance in text: ATP7B: Met645Arg

PubMed Link: 33262486

Variant Present in the following documents:

• Main text

View BVdb publication page

---

ATP7B variant c.1934T > G p.Met645Arg causes Wilson disease by promoting exon 6 skipping.

Npj Genomic Medicine

Merico, Daniele D; Spickett, Carl C; O'Hara, Matthew M; Kakaradov, Boyko B; Deshwar, Amit G AG; Fradkin, Phil P; Gandhi, Shreshth S; Gao, Jiexin J; Grant, Solomon S; Kron, Ken K; Schmitges, Frank W FW; Shalev, Zvi Z; Sun, Mark M; Verby, Marta M; Cahill, Matthew M; Dowling, James J JJ; Fransson, Johan J; Wienholds, Erno E; Frey, Brendan J BJ

Publication Date: 2020

Variant appearance in text: ATP7B: Met645Arg; rs121907998

PubMed Link: 32284880

Variant Present in the following documents:

• Main text
• 41525_2020_123_MOESM1_ESM.pdf
• 41525_2020_Article_123.pdf

View BVdb publication page

---

Wilson disease in Costa Rica: Pediatric phenotype and genotype characterization.

Jimd Reports

Penon-Portmann, Monica M; Lotz-Esquivel, Stephanie S; Chavez Carrera, Alejandra A; Jiménez-Hernández, Mildred M; Alvarado-Romero, Danny D; Segura-Cordero, Sharon S; Rimolo-Donadio, Fiorella F; Hevia-Urrutia, Francisco F; Mora-Guevara, Alfredo A; Saborío-Rocafort, Manuel M; Jiménez-Arguedas, Gabriela G; Badilla-Porras, Ramsés R

Publication Date: 2020-03

Variant appearance in text: ATP7B: M645R

PubMed Link: 32154060

Variant Present in the following documents:

• Main text

View BVdb publication page

---

The co-occurrence of Wilson disease and X-linked agammaglobulinemia in one family highlights the promising diagnostic potential of proteolytic analysis.

Molecular Genetics & Genomic Medicine

Poskanzer, Sheri A SA; Thies, Jenny J; Collins, Christopher J CJ; Myers, Candace T CT; Dayuha, Remwilyn R; Duong, Phi P; Yi, Fan F; Chang, Irene J IJ; Ochs, Hans D HD; Torgerson, Troy R TR; Hahn, Si Houn SH

Publication Date: 2020-04

Variant appearance in text: ATP7B: 1934T>G; Met645Arg; rs121907998

PubMed Link: 32067425

Variant Present in the following documents:

• Main text
• MGG3-8-e1172.pdf

View BVdb publication page

---

Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Hou, Ying-Chen Claire YC; Yu, Hung-Chun HC; Martin, Rick R; Cirulli, Elizabeth T ET; Schenker-Ahmed, Natalie M NM; Hicks, Michael M; Cohen, Isaac V IV; Jönsson, Thomas J TJ; Heister, Robyn R; Napier, Lori L; Swisher, Christine Leon CL; Dominguez, Saints S; Tang, Haibao H; Li, Weizhong W; Perkins, Bradley A BA; Barea, Jaime J; Rybak, Christina C; Smith, Emily E; Duchicela, Keegan K; Doney, Michael M; Brar, Pamila P; Hernandez, Nathaniel N; Kirkness, Ewen F EF; Kahn, Andrew M AM; Venter, J Craig JC; Karow, David S DS; Caskey, C Thomas CT

Publication Date: 2020-02-11

Variant appearance in text: ATP7B: 1934T>G; Met645Arg

PubMed Link: 31980526

Variant Present in the following documents:

• pnas.1909378117.sd01.xlsx, sheet 3

View BVdb publication page

---

Genetics and epigenetic factors of Wilson disease.

Annals Of Translational Medicine

Medici, Valentina V; LaSalle, Janine M JM

Publication Date: 2019-04

Variant appearance in text: ATP7B: M645R

PubMed Link: 31179295

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: 1934T>G; Met645Arg

PubMed Link: 31059521

Variant Present in the following documents:

• pone.0215779.s001.pdf

View BVdb publication page

---

An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: ATP7B: 1934T>G; Met645Arg

PubMed Link: 30937429

Variant Present in the following documents:

• Main text
• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1
• baz040.pdf

View BVdb publication page

---

A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports

Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW

Publication Date: 2019-03-20

Variant appearance in text: ATP7B: M645R

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 11

View BVdb publication page

---

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: M645R; rs121907998

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

---

Wilson disease.

Nature Reviews. Disease Primers

Członkowska, Anna A; Litwin, Tomasz T; Dusek, Petr P; Ferenci, Peter P; Lutsenko, Svetlana S; Medici, Valentina V; Rybakowski, Janusz K JK; Weiss, Karl Heinz KH; Schilsky, Michael L ML

Publication Date: 2018-09-06

Variant appearance in text: ATP7B: M645R

PubMed Link: 30190489

Variant Present in the following documents:

• Main text

View BVdb publication page

---

High genetic carrier frequency of Wilson's disease in France: discrepancies with clinical prevalence.

Bmc Medical Genetics

Collet, Corinne C; Laplanche, Jean-Louis JL; Page, Justine J; Morel, Hélène H; Woimant, France F; Poujois, Aurélia A

Publication Date: 2018-08-10

Variant appearance in text: ATP7B: Met645Arg; rs121907998

PubMed Link: 30097039

Variant Present in the following documents:

• Main text
• 12881_2018_Article_660.pdf

View BVdb publication page

---

Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: ATP7B: 1934T>G; Met645Arg

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

---

The genetics of Wilson disease.

Handbook Of Clinical Neurology

Chang, Irene J IJ; Hahn, Si Houn SH

Publication Date: 2017

Variant appearance in text: ATP7B: 1934T>G; Met645Arg; rs121907998

PubMed Link: 28433102

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Comprehensive population screening in the Ashkenazi Jewish population for recurrent disease-causing variants.

Clinical Genetics

Shi, L L; Webb, B D BD; Birch, A H AH; Elkhoury, L L; McCarthy, J J; Cai, X X; Oishi, K K; Mehta, L L; Diaz, G A GA; Edelmann, L L; Kornreich, R R

Publication Date: 2017-04

Variant appearance in text: ATP7B: M645R

PubMed Link: 27415407

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Mutational analysis of ATP7B in Chinese Wilson disease patients.

American Journal Of Translational Research

Hua, Rui R; Hua, Fang F; Jiao, Yonggeng Y; Pan, Yu Y; Yang, Xu X; Peng, Shanshan S; Niu, Junqi J

Publication Date: 2016

Variant appearance in text: ATP7B: M645R

PubMed Link: 27398169

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Wilson's disease: A review of what we have learned.

World Journal Of Hepatology

Rodriguez-Castro, Kryssia Isabel KI; Hevia-Urrutia, Francisco Javier FJ; Sturniolo, Giacomo Carlo GC

Publication Date: 2015-12-18

Variant appearance in text: ATP7B: Met645Arg

PubMed Link: 26692151

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: M645R

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

---

Wilson's disease and other neurological copper disorders.

The Lancet. Neurology

Bandmann, Oliver O; Weiss, Karl Heinz KH; Kaler, Stephen G SG

Publication Date: 2015-01

Variant appearance in text: ATP7B: 1934T>G

PubMed Link: 25496901

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Phenotype-genotype correlation in Wilson disease in a large Lebanese family: association of c.2299insC with hepatic and of p. Ala1003Thr with neurologic phenotype.

Plos One

Usta, Julnar J; Wehbeh, Antonios A; Rida, Khaled K; El-Rifai, Omar O; Estiphan, Theresa Alicia TA; Majarian, Tamar T; Barada, Kassem K

Publication Date: 2014

Variant appearance in text: ATP7B: Met645Arg

PubMed Link: 25390358

Variant Present in the following documents:

• Main text
• pone.0109727.pdf

View BVdb publication page

---

Distinct phenotype of a Wilson disease mutation reveals a novel trafficking determinant in the copper transporter ATP7B.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Braiterman, Lelita T LT; Murthy, Amrutha A; Jayakanthan, Samuel S; Nyasae, Lydia L; Tzeng, Eric E; Gromadzka, Grazyna G; Woolf, Thomas B TB; Lutsenko, Svetlana S; Hubbard, Ann L AL

Publication Date: 2014-04-08

Variant appearance in text: ATP7B: M645R

PubMed Link: 24706876

Variant Present in the following documents:

• Main text

View BVdb publication page

---

A genetic study of Wilson's disease in the United Kingdom.

Brain : A Journal Of Neurology

Coffey, Alison J AJ; Durkie, Miranda M; Hague, Stephen S; McLay, Kirsten K; Emmerson, Jennifer J; Lo, Christine C; Klaffke, Stefanie S; Joyce, Christopher J CJ; Dhawan, Anil A; Hadzic, Nedim N; Mieli-Vergani, Giorgina G; Kirk, Richard R; Elizabeth Allen, K K; Nicholl, David D; Wong, Siew S; Griffiths, William W; Smithson, Sarah S; Giffin, Nicola N; Taha, Ali A; Connolly, Sally S; Gillett, Godfrey T GT; Tanner, Stuart S; Bonham, Jim J; Sharrack, Basil B; Palotie, Aarno A; Rattray, Magnus M; Dalton, Ann A; Bandmann, Oliver O

Publication Date: 2013-05

Variant appearance in text: ATP7B: 1934T>G; Met645Arg

PubMed Link: 23518715

Variant Present in the following documents:

• Main text

View BVdb publication page

---

The genetic landscape of high-risk neuroblastoma.

Nature Genetics

Pugh, Trevor J TJ; Morozova, Olena O; Attiyeh, Edward F EF; Asgharzadeh, Shahab S; Wei, Jun S JS; Auclair, Daniel D; Carter, Scott L SL; Cibulskis, Kristian K; Hanna, Megan M; Kiezun, Adam A; Kim, Jaegil J; Lawrence, Michael S MS; Lichenstein, Lee L; McKenna, Aaron A; Pedamallu, Chandra Sekhar CS; Ramos, Alex H AH; Shefler, Erica E; Sivachenko, Andrey A; Sougnez, Carrie C; Stewart, Chip C; Ally, Adrian A; Birol, Inanc I; Chiu, Readman R; Corbett, Richard D RD; Hirst, Martin M; Jackman, Shaun D SD; Kamoh, Baljit B; Khodabakshi, Alireza Hadj AH; Krzywinski, Martin M; Lo, Allan A; Moore, Richard A RA; Mungall, Karen L KL; Qian, Jenny J; Tam, Angela A; Thiessen, Nina N; Zhao, Yongjun Y; Cole, Kristina A KA; Diamond, Maura M; Diskin, Sharon J SJ; Mosse, Yael P YP; Wood, Andrew C AC; Ji, Lingyun L; Sposto, Richard R; Badgett, Thomas T; London, Wendy B WB; Moyer, Yvonne Y; Gastier-Foster, Julie M JM; Smith, Malcolm A MA; Guidry Auvil, Jaime M JM; Gerhard, Daniela S DS; Hogarty, Michael D MD; Jones, Steven J M SJ; Lander, Eric S ES; Gabriel, Stacey B SB; Getz, Gad G; Seeger, Robert C RC; Khan, Javed J; Marra, Marco A MA; Meyerson, Matthew M; Maris, John M JM

Publication Date: 2013-03

Variant appearance in text: ATP7B: 1934T>G; M645R; rs121907998

PubMed Link: 23334666

Variant Present in the following documents:

• NIHMS474900-supplement-8.xlsx, sheet 1

View BVdb publication page

---

A structural model of the copper ATPase ATP7B to facilitate analysis of Wilson disease-causing mutations and studies of the transport mechanism.

Metallomics : Integrated Biometal Science

Schushan, Maya M; Bhattacharjee, Ashima A; Ben-Tal, Nir N; Lutsenko, Svetlana S

Publication Date: 2012-07

Variant appearance in text: ATP7B: M645R

PubMed Link: 22692182

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Diverse functional properties of Wilson disease ATP7B variants.

Gastroenterology

Huster, Dominik D; Kühne, Angelika A; Bhattacharjee, Ashima A; Raines, Lily L; Jantsch, Vanessa V; Noe, Johannes J; Schirrmeister, Wiebke W; Sommerer, Ines I; Sabri, Osama O; Berr, Frieder F; Mössner, Joachim J; Stieger, Bruno B; Caca, Karel K; Lutsenko, Svetlana S

Publication Date: 2012-04

Variant appearance in text: ATP7B: M645R

PubMed Link: 22240481

Variant Present in the following documents:

• Main text

View BVdb publication page

---