Publications:

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Genetic Evaluation of A Nation-Wide Dutch Pediatric DCM Cohort: The Use of Genetic Testing in Risk Stratification.

Circulation. Genomic And Precision Medicine

van der Meulen, Marijke H MH; Herkert, Johanna C JC; den Boer, Susanna L SL; du Marchie Sarvaas, Gideon J GJ; Blom, Nico A NA; Ten Harkel, Arend D J ADJ; Breur, Hans M P J HMPJ; Rammeloo, Lukas A J LAJ; Tanke, Ronald B RB; Marcelis, Carlo C; van de Laar, Ingrid M B H IMBH; Verhagen, Judith M A JMA; Lekanne Dit Deprez, Ronald H RH; Barge-Schaapveld, Daniela Q C M DQCM; Baas, Annette F AF; Sammani, Arjan A; Christiaans, Imke I; van Tintelen, J Peter JP; Dalinghaus, Michiel M

Publication Date: 2022-10

Variant appearance in text: PKP2: 184C>A; Gln62Lys

PubMed Link: 36178741

Variant Present in the following documents:

• hcg-15-e002981-s001.pdf

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Arrhythmogenic Cardiomyopathy: Molecular Insights for Improved Therapeutic Design.

Journal Of Cardiovascular Development And Disease

Stevens, Tyler L TL; Wallace, Michael J MJ; Refaey, Mona El ME; Roberts, Jason D JD; Koenig, Sara N SN; Mohler, Peter J PJ

Publication Date: 2020-05-26

Variant appearance in text: PKP2: Q62K

PubMed Link: 32466575

Variant Present in the following documents:

• Main text
• jcdd-07-00021.pdf

View BVdb publication page

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Sudden Cardiac Death (SCD) - risk stratification and prediction with molecular biomarkers.

Journal Of Biomedical Science

Osman, Junaida J; Tan, Shing Cheng SC; Lee, Pey Yee PY; Low, Teck Yew TY; Jamal, Rahman R

Publication Date: 2019-05-22

Variant appearance in text: PKP2: Q62K

PubMed Link: 31118017

Variant Present in the following documents:

• Main text
• 12929_2019_Article_535.pdf

View BVdb publication page

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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: PKP2: 184C>A; Gln62Lys

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.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: PKP2: 184C>A; Gln62Lys; rs199601548

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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Non-familial cardiomyopathies in Lebanon: exome sequencing results for five idiopathic cases.

Bmc Medical Genomics

Refaat, Marwan M MM; Hassanieh, Sylvana S; Ballout, Jad A JA; Zakka, Patrick P; Hotait, Mostafa M; Khalil, Athar A; Bitar, Fadi F; Arabi, Mariam M; Arnaout, Samir S; Skouri, Hadi H; Abchee, Antoine A; Abi-Saleh, Bernard B; Khoury, Maurice M; Massouras, Andreas A; Nemer, Georges G

Publication Date: 2019-02-14

Variant appearance in text: rs199601548

PubMed Link: 30764827

Variant Present in the following documents:

• Main text
• 12920_2019_Article_478.pdf

View BVdb publication page

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Identification of putative pathogenic single nucleotide variants (SNVs) in genes associated with heart disease in 290 cases of stillbirth.

Plos One

Sahlin, Ellika E; Gréen, Anna A; Gustavsson, Peter P; Liedén, Agne A; Nordenskjöld, Magnus M; Papadogiannakis, Nikos N; Pettersson, Karin K; Nilsson, Daniel D; Jonasson, Jon J; Iwarsson, Erik E

Publication Date: 2019

Variant appearance in text: PKP2: 184C>A; Gln62Lys; rs199601548

PubMed Link: 30615648

Variant Present in the following documents:

• pone.0210017.s002.xlsx, sheet 1

View BVdb publication page

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Brugada syndrome: a fatal disease with complex genetic etiologies - still a long way to go.

Forensic Sciences Research

Wu, Yeda Y; Ai, Mei M; Bardeesi, Adham Sameer A ASA; Xu, Lunwu L; Zheng, Jingjing J; Zheng, Da D; Yin, Kun K; Wu, Qiuping Q; Zhang, Liyong L; Huang, Lei L; Cheng, Jianding J

Publication Date: 2017

Variant appearance in text: PKP2: Q62K

PubMed Link: 30483629

Variant Present in the following documents:

• Main text
• tfsr-2-1333203.pdf

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: 184C>A; Gln62Lys

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Natural and Undetermined Sudden Death: Value of Post-Mortem Genetic Investigation.

Plos One

Sanchez, Olallo O; Campuzano, Oscar O; Fernández-Falgueras, Anna A; Sarquella-Brugada, Georgia G; Cesar, Sergi S; Mademont, Irene I; Mates, Jesus J; Pérez-Serra, Alexandra A; Coll, Monica M; Pico, Ferran F; Iglesias, Anna A; Tirón, Coloma C; Allegue, Catarina C; Carro, Esther E; Gallego, María Ángeles MÁ; Ferrer-Costa, Carles C; Hospital, Anna A; Bardalet, Narcís N; Borondo, Juan Carlos JC; Vingut, Albert A; Arbelo, Elena E; Brugada, Josep J; Castellà, Josep J; Medallo, Jordi J; Brugada, Ramon R

Publication Date: 2016

Variant appearance in text: PKP2: 184C>A; Q62K; rs199601548

PubMed Link: 27930701

Variant Present in the following documents:

• Main text
• pone.0167358.pdf

View BVdb publication page

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Genetic investigation of 100 heart genes in sudden unexplained death victims in a forensic setting.

European Journal Of Human Genetics : Ejhg

Christiansen, Sofie Lindgren SL; Hertz, Christin Løth CL; Ferrero-Miliani, Laura L; Dahl, Morten M; Weeke, Peter Ejvin PE; LuCamp, ; Ottesen, Gyda Lolk GL; Frank-Hansen, Rune R; Bundgaard, Henning H; Morling, Niels N

Publication Date: 2016-12

Variant appearance in text: PKP2: 184C>A; Q62K; rs199601548

PubMed Link: 27650965

Variant Present in the following documents:

• Main text

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: 184C>A; Q62K

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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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: Q62K

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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Exome sequencing of a family with lone, autosomal dominant atrial flutter identifies a rare variation in ABCB4 significantly enriched in cases.

Bmc Genetics

Maciąg, Anna A; Villa, Francesco F; Ferrario, Anna A; Spinelli, Chiara Carmela CC; Carrizzo, Albino A; Malovini, Alberto A; Torella, Annalaura A; Montenero, Chiara C; Parisi, Attilio A; Condorelli, Gianluigi G; Vecchione, Carmine C; Nigro, Vincenzo V; Montenero, Annibale Sandro AS; Puca, Annibale Alessandro AA

Publication Date: 2015-02-11

Variant appearance in text: PKP2: Q62K

PubMed Link: 25888430

Variant Present in the following documents:

• 12863_2015_177_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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Missense mutations in plakophilin-2 cause sodium current deficit and associate with a Brugada syndrome phenotype.

Circulation

Cerrone, Marina M; Lin, Xianming X; Zhang, Mingliang M; Agullo-Pascual, Esperanza E; Pfenniger, Anna A; Chkourko Gusky, Halina H; Novelli, Valeria V; Kim, Changsung C; Tirasawadichai, Tiara T; Judge, Daniel P DP; Rothenberg, Eli E; Chen, Huei-Sheng Vincent HS; Napolitano, Carlo C; Priori, Silvia G SG; Delmar, Mario M

Publication Date: 2014-03-11

Variant appearance in text: PKP2: Q62K

PubMed Link: 24352520

Variant Present in the following documents:

• Main text

View BVdb publication page

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Prevalence of arrhythmia-associated gene mutations and risk of sudden cardiac death in the Finnish population.

Annals Of Medicine

Lahtinen, Annukka M AM; Havulinna, Aki S AS; Noseworthy, Peter A PA; Jula, Antti A; Karhunen, Pekka J PJ; Perola, Markus M; Newton-Cheh, Christopher C; Salomaa, Veikko V; Kontula, Kimmo K

Publication Date: 2013-06

Variant appearance in text: PKP2: Q62K

PubMed Link: 23651034

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: Q62K

PubMed Link: 23299917

Variant Present in the following documents:

• ejhg2012283a.pdf

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Abnormal connexin43 in arrhythmogenic right ventricular cardiomyopathy caused by plakophilin-2 mutations.

Journal Of Cellular And Molecular Medicine

Fidler, Lee M LM; Wilson, Gregory J GJ; Liu, Fanfan F; Cui, Xuezhi X; Scherer, Stephen W SW; Taylor, Glenn P GP; Hamilton, Robert M RM

Publication Date: 2009-10

Variant appearance in text: PKP2: Q62K

PubMed Link: 18662195

Variant Present in the following documents:

• Main text
• jcmm0013-4219.pdf

View BVdb publication page

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