Publications:

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Harmonizing variant classification for return of results in the All of Us Research Program.

Human Mutation

Harrison, Steven M SM; Austin-Tse, Christina A CA; Kim, Serra S; Lebo, Matthew M; Leon, Annette A; Murdock, David D; Radhakrishnan, Aparna A; Shirts, Brian H BH; Steeves, Marcie M; Venner, Eric E; Gibbs, Richard A RA; Jarvik, Gail P GP; Rehm, Heidi L HL

Publication Date: 2022-08

Variant appearance in text: DSG2: 2434G>T; Gly812Cys

PubMed Link: 34923710

Variant Present in the following documents:

• HUMU-43-1114-s002.xlsx, sheet 1

View BVdb publication page

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Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance.

Netherlands Heart Journal : Monthly Journal Of The Netherlands Society Of Cardiology And The Netherlands Heart Foundation

van Lint, F H M FHM; Mook, O R F ORF; Alders, M M; Bikker, H H; Lekanne Dit Deprez, R H RH; Christiaans, I I

Publication Date: 2019-06

Variant appearance in text: rs121913010

PubMed Link: 30847666

Variant Present in the following documents:

• 12471_2019_1250_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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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: DSG2: 2434G>T; Gly812Cys

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: DSG2: 2434G>T; G812C

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

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: DSG2: G812C

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

View BVdb publication page

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Actionable, pathogenic incidental findings in 1,000 participants' exomes.

American Journal Of Human Genetics

Dorschner, Michael O MO; Amendola, Laura M LM; Turner, Emily H EH; Robertson, Peggy D PD; Shirts, Brian H BH; Gallego, Carlos J CJ; Bennett, Robin L RL; Jones, Kelly L KL; Tokita, Mari J MJ; Bennett, James T JT; Kim, Jerry H JH; Rosenthal, Elisabeth A EA; Kim, Daniel S DS; , ; Tabor, Holly K HK; Bamshad, Michael J MJ; Motulsky, Arno G AG; Scott, C Ronald CR; Pritchard, Colin C CC; Walsh, Tom T; Burke, Wylie W; Raskind, Wendy H WH; Byers, Peter P; Hisama, Fuki M FM; Nickerson, Deborah A DA; Jarvik, Gail P GP

Publication Date: 2013-10-03

Variant appearance in text: DSG2: 2434G>T; Gly812Cys; rs121913010

PubMed Link: 24055113

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mechanistic basis of desmosome-targeted diseases.

Journal Of Molecular Biology

Al-Jassar, Caezar C; Bikker, Hennie H; Overduin, Michael M; Chidgey, Martyn M

Publication Date: 2013-11-01

Variant appearance in text: DSG2: G812C

PubMed Link: 23911551

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Shared desmosome gene findings in early and late onset arrhythmogenic right ventricular dysplasia/cardiomyopathy.

Journal Of Cardiovascular Translational Research

Tan, Boon Yew BY; Jain, Rahul R; den Haan, A Dénise AD; Chen, Yan Y; Dalal, Darshan D; Tandri, Harikrishna H; Amat-Alarcon, Nuria N; Daly, Amy A; Tichnell, Crystal C; James, Cynthia C; Calkins, Hugh H; Judge, Daniel P DP

Publication Date: 2010-12

Variant appearance in text: DSG2: G812C

PubMed Link: 20857253

Variant Present in the following documents:

• Main text

View BVdb publication page

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Novel missense mutations in exon 15 of desmoglein-2: role of the intracellular cadherin segment in arrhythmogenic right ventricular cardiomyopathy?

Heart Rhythm

Gehmlich, Katja K; Asimaki, Angeliki A; Cahill, Thomas J TJ; Ehler, Elisabeth E; Syrris, Petros P; Zachara, Elisabetta E; Re, Federica F; Avella, Andrea A; Monserrat, Lorenzo L; Saffitz, Jeffrey E JE; McKenna, William J WJ

Publication Date: 2010-10

Variant appearance in text: DSG2: G812C

PubMed Link: 20708101

Variant Present in the following documents:

• Main text
• mmc1.pdf

View BVdb publication page

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Comprehensive desmosome mutation analysis in north americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy.

Circulation. Cardiovascular Genetics

den Haan, A Dénise AD; Tan, Boon Yew BY; Zikusoka, Michelle N MN; Lladó, Laura Ibañez LI; Jain, Rahul R; Daly, Amy A; Tichnell, Crystal C; James, Cynthia C; Amat-Alarcon, Nuria N; Abraham, Theodore T; Russell, Stuart D SD; Bluemke, David A DA; Calkins, Hugh H; Dalal, Darshan D; Judge, Daniel P DP

Publication Date: 2009-10

Variant appearance in text: DSG2: 2434G>T; Gly812Cys

PubMed Link: 20031617

Variant Present in the following documents:

• Main text

View BVdb publication page

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