Publications:

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A Phase II Trial of Guadecitabine plus Atezolizumab in Metastatic Urothelial Carcinoma Progressing after Initial Immune Checkpoint Inhibitor Therapy.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Jang, H Josh HJ; Hostetter, Galen G; MacFarlane, Alexander W AW; Madaj, Zachary Z; Ross, Eric A EA; Hinoue, Toshinori T; Kulchycki, Justin R JR; Burgos, Ryan S RS; Tafseer, Mahvish M; Alpaugh, R Katherine RK; Schwebel, Candice L CL; Kokate, Rutika R; Geynisman, Daniel M DM; Zibelman, Matthew R MR; Ghatalia, Pooja P; Nichols, Peter W PW; Chung, Woonbok W; Madzo, Jozef J; Hahn, Noah M NM; Quinn, David I DI; Issa, Jean-Pierre J JJ; Topper, Michael J MJ; Baylin, Stephen B SB; Shen, Hui H; Campbell, Kerry S KS; Jones, Peter A PA; Plimack, Elizabeth R ER

Publication Date: 2023-03-16

Variant appearance in text: PKP2: S140F

PubMed Link: 36928921

Variant Present in the following documents:

• ccr-22-3642_supplementary_tables_1_suppts1.xlsx, sheet 3

View BVdb publication page

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Genetic variants in African-American and Hispanic patients with breast cancer.

Oncology Letters

Dutta, Pranabananda P; Keung, Man Y MY; Wu, Yanyuan Y; Vadgama, Jaydutt V JV

Publication Date: 2023-02

Variant appearance in text: PKP2: 419C>T; S140F

PubMed Link: 36644153

Variant Present in the following documents:

• Supplementary_Data5.xlsx, sheet 2

View BVdb publication page

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Determining the Likelihood of Disease Pathogenicity Among Incidentally Identified Genetic Variants in Rare Dilated Cardiomyopathy-Associated Genes.

Journal Of The American Heart Association

Yang, Qixin Q; Berkman, Amy M AM; Ezekian, Jordan E JE; Rosamilia, Michael M; Rosenfeld, Jill A JA; Liu, Pengfei P; Landstrom, Andrew P AP

Publication Date: 2022-10-04

Variant appearance in text: PKP2: 419C>T; S140F

PubMed Link: 36129056

Variant Present in the following documents:

• JAH3-11-e025257-s001.pdf
• JAH3-11-e025257.pdf

View BVdb publication page

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1029 genomes of self-declared healthy individuals from India reveal prevalent and clinically relevant cardiac ion channelopathy variants.

Human Genomics

Bajaj, Anjali A; Senthivel, Vigneshwar V; Bhoyar, Rahul R; Jain, Abhinav A; Imran, Mohamed M; Rophina, Mercy M; Divakar, Mohit Kumar MK; Jolly, Bani B; Verma, Ankit A; Mishra, Anushree A; Sharma, Disha D; Deepti, Siddharthan S; Sharma, Gautam G; Bansal, Raghav R; Yadav, Rakesh R; Scaria, Vinod V; Naik, Nitish N; Sivasubbu, Sridhar S

Publication Date: 2022-08-05

Variant appearance in text: PKP2: 419C>T; S140F; rs150821281

PubMed Link: 35932045

Variant Present in the following documents:

• 40246_2022_402_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.

Oncotarget

Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K

Publication Date: 2017-11-21

Variant appearance in text: PKP2: 419C>T; S140F; rs150821281

PubMed Link: 29245897

Variant Present in the following documents:

• oncotarget-08-99237-s003.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: PKP2: 419C>T; Ser140Phe

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports

Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE

Publication Date: 2017-04-25

Variant appearance in text: PKP2: S140F; rs150821281

PubMed Link: 28440294

Variant Present in the following documents:

• srep46105-s2.xls, sheet 8

View BVdb publication page

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Genetics and genomics of dilated cardiomyopathy and systolic heart failure.

Genome Medicine

Tayal, Upasana U; Prasad, Sanjay S; Cook, Stuart A SA

Publication Date: 2017-02-22

Variant appearance in text: PKP2: 419C>T; S140F

PubMed Link: 28228157

Variant Present in the following documents:

• Main text
• 13073_2017_Article_410.pdf

View BVdb publication page

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The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine

Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM

Publication Date: 2016-07-26

Variant appearance in text: PKP2: 419C>T; S140F; rs150821281

PubMed Link: 27460824

Variant Present in the following documents:

• 13073_2016_333_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs150821281

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Identification of Medically Actionable Secondary Findings in the 1000 Genomes.

Plos One

Olfson, Emily E; Cottrell, Catherine E CE; Davidson, Nicholas O NO; Gurnett, Christina A CA; Heusel, Jonathan W JW; Stitziel, Nathan O NO; Chen, Li-Shiun LS; Hartz, Sarah S; Nagarajan, Rakesh R; Saccone, Nancy L NL; Bierut, Laura J LJ

Publication Date: 2015

Variant appearance in text: PKP2: 419C>T; Ser140Phe; rs150821281

PubMed Link: 26332594

Variant Present in the following documents:

• pone.0135193.s002.xls, sheet 1

View BVdb publication page

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Plakophilin-2 c.419C>T and risk of heart failure and arrhythmias in the general population.

European Journal Of Human Genetics : Ejhg

Christensen, Alex Hørby AH; Kamstrup, Pia Rørbœk PR; Gandjbakhch, Estelle E; Benn, Marianne M; Jensen, Jan Skov JS; Bundgaard, Henning H; Villard, Eric E; Tybjærg-Hansen, Anne A

Publication Date: 2016-05

Variant appearance in text: PKP2: 419C>T; S140F; rs150821281

PubMed Link: 26264440

Variant Present in the following documents:

• Main text

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: PKP2: S140F

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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Widespread macromolecular interaction perturbations in human genetic disorders.

Cell

Sahni, Nidhi N; Yi, Song S; Taipale, Mikko M; Fuxman Bass, Juan I JI; Coulombe-Huntington, Jasmin J; Yang, Fan F; Peng, Jian J; Weile, Jochen J; Karras, Georgios I GI; Wang, Yang Y; Kovács, István A IA; Kamburov, Atanas A; Krykbaeva, Irina I; Lam, Mandy H MH; Tucker, George G; Khurana, Vikram V; Sharma, Amitabh A; Liu, Yang-Yu YY; Yachie, Nozomu N; Zhong, Quan Q; Shen, Yun Y; Palagi, Alexandre A; San-Miguel, Adriana A; Fan, Changyu C; Balcha, Dawit D; Dricot, Amelie A; Jordan, Daniel M DM; Walsh, Jennifer M JM; Shah, Akash A AA; Yang, Xinping X; Stoyanova, Ani K AK; Leighton, Alex A; Calderwood, Michael A MA; Jacob, Yves Y; Cusick, Michael E ME; Salehi-Ashtiani, Kourosh K; Whitesell, Luke J LJ; Sunyaev, Shamil S; Berger, Bonnie B; Barabási, Albert-László AL; Charloteaux, Benoit B; Hill, David E DE; Hao, Tong T; Roth, Frederick P FP; Xia, Yu Y; Walhout, Albertha J M AJM; Lindquist, Susan S; Vidal, Marc M

Publication Date: 2015-04-23

Variant appearance in text: PKP2: S140F

PubMed Link: 25910212

Variant Present in the following documents:

• Main text

View BVdb publication page

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Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.

Plos One

Yu, Fuli F; Lu, Jian J; Liu, Xiaoming X; Gazave, Elodie E; Chang, Diana D; Raj, Srilakshmi S; Hunter-Zinck, Haley H; Blekhman, Ran R; Arbiza, Leonardo L; Van Hout, Cris C; Morrison, Alanna A; Johnson, Andrew D AD; Bis, Joshua J; Cupples, L Adrienne LA; Psaty, Bruce M BM; Muzny, Donna D; Yu, Jin J; Gibbs, Richard A RA; Keinan, Alon A; Clark, Andrew G AG; Boerwinkle, Eric E

Publication Date: 2015

Variant appearance in text: PKP2: S140F

PubMed Link: 25807536

Variant Present in the following documents:

• pone.0121644.s002.xls, sheet 1

View BVdb publication page

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Assessment of incidental findings in 232 whole-exome sequences from the Baylor-Hopkins Center for Mendelian Genomics.

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

Jurgens, Julie J; Ling, Hua H; Hetrick, Kurt K; Pugh, Elizabeth E; Schiettecatte, Francois F; Doheny, Kimberly K; Hamosh, Ada A; Avramopoulos, Dimitri D; Valle, David D; Sobreira, Nara N

Publication Date: 2015-10

Variant appearance in text: PKP2: 419C>T; Ser140Phe

PubMed Link: 25569433

Variant Present in the following documents:

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: PKP2: S140F

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

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: PKP2: 419C>T; Ser140Phe; rs150821281

PubMed Link: 24055113

Variant Present in the following documents:

• Main text

View BVdb publication page

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New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants.

European Journal Of Human Genetics : Ejhg

Andreasen, Charlotte C; Nielsen, Jonas B JB; Refsgaard, Lena L; Holst, Anders G AG; Christensen, Alex H AH; Andreasen, Laura L; Sajadieh, Ahmad A; Haunsø, Stig S; Svendsen, Jesper H JH; Olesen, Morten S MS

Publication Date: 2013-09

Variant appearance in text: PKP2: S140F

PubMed Link: 23299917

Variant Present in the following documents:

• ejhg2012283a.pdf

View BVdb publication page

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Genome-wide prediction of splice-modifying SNPs in human genes using a new analysis pipeline called AASsites.

Bmc Bioinformatics

Faber, Kirsten K; Glatting, Karl-Heinz KH; Mueller, Phillip J PJ; Risch, Angela A; Hotz-Wagenblatt, Agnes A

Publication Date: 2011

Variant appearance in text: PKP2: S140F

PubMed Link: 21992029

Variant Present in the following documents:

• 1471-2105-12-S4-S2-S1.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: PKP2: S140F

PubMed Link: 20857253

Variant Present in the following documents:

• Main text

View BVdb publication page

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Compound and digenic heterozygosity contributes to arrhythmogenic right ventricular cardiomyopathy.

Journal Of The American College Of Cardiology

Xu, Tianhong T; Yang, Zhao Z; Vatta, Matteo M; Rampazzo, Alessandra A; Beffagna, Giorgia G; Pilichou, Kalliopi K; Pillichou, Kalliopi K; Scherer, Steven E SE; Saffitz, Jeffrey J; Kravitz, Joshua J; Zareba, Wojciech W; Danieli, Gian Antonio GA; Lorenzon, Alessandra A; Nava, Andrea A; Bauce, Barbara B; Thiene, Gaetano G; Basso, Cristina C; Calkins, Hugh H; Gear, Kathy K; Marcus, Frank F; Towbin, Jeffrey A JA; ,

Publication Date: 2010-02-09

Variant appearance in text: PKP2: S140F

PubMed Link: 20152563

Variant Present in the following documents:

• Main text

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: PKP2: 419C>T; S140F

PubMed Link: 20031617

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Nucleic Acids Research

Ryu, Gil-Mi GM; Song, Pamela P; Kim, Kyu-Won KW; Oh, Kyung-Soo KS; Park, Keun-Joon KJ; Kim, Jong Hun JH

Publication Date: 2009-03

Variant appearance in text: PKP2: S140F

PubMed Link: 19139070

Variant Present in the following documents:

• gkn1008_nar-01723-s-2008-File009.xls, sheet 1

View BVdb publication page

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