Publications:

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Structural and signaling proteins in the Z-disk and their role in cardiomyopathies.

Frontiers In Physiology

Noureddine, Maya M; Gehmlich, Katja K

Publication Date: 2023

Variant appearance in text: MYPN: Tyr20Cys

PubMed Link: 36935760

Variant Present in the following documents:

• Main text
• fphys-14-1143858.pdf

View BVdb publication page

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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: MYPN: 59A>G; Tyr20Cys

PubMed Link: 36178741

Variant Present in the following documents:

• hcg-15-e002981-s001.pdf

View BVdb publication page

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Diagnostic yield of genetic testing in heart transplant recipients with prior cardiomyopathy.

The Journal Of Heart And Lung Transplantation : The Official Publication Of The International Society For Heart Transplantation

Boen, Hanne M HM; Loeys, Bart L BL; Alaerts, Maaike M; Saenen, Johan B JB; Goovaerts, Inge I; Van Laer, Lut L; Vorlat, Anne A; Vermeulen, Tom T; Franssen, Constantijn C; Pauwels, Patrick P; Rodrigus, Inez I; Heidbuchel, Hein H; Van Craenenbroeck, Emeline M EM

Publication Date: 2022-09

Variant appearance in text: MYPN: 59A>G; Tyr20Cys

PubMed Link: 35581137

Variant Present in the following documents:

• Main text

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: MYPN: Y20C; rs140148105

PubMed Link: 35115730

Variant Present in the following documents:

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

View BVdb publication page

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The Role of Z-disc Proteins in Myopathy and Cardiomyopathy.

International Journal Of Molecular Sciences

Wadmore, Kirsty K; Azad, Amar J AJ; Gehmlich, Katja K

Publication Date: 2021-03-17

Variant appearance in text: MYPN: Tyr20Cys

PubMed Link: 33802723

Variant Present in the following documents:

• Main text
• ijms-22-03058.pdf

View BVdb publication page

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Mastermind: A Comprehensive Genomic Association Search Engine for Empirical Evidence Curation and Genetic Variant Interpretation.

Frontiers In Genetics

Chunn, Lauren M LM; Nefcy, Diane C DC; Scouten, Rachel W RW; Tarpey, Ryan P RP; Chauhan, Gurinder G; Lim, Megan S MS; Elenitoba-Johnson, Kojo S J KSJ; Schwartz, Steven A SA; Kiel, Mark J MJ

Publication Date: 2020

Variant appearance in text: MYPN: Y20C

PubMed Link: 33281875

Variant Present in the following documents:

• Main text
• fgene-11-577152.pdf

View BVdb publication page

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Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Nature Communications

Akhavanfard, Sara S; Padmanabhan, Roshan R; Yehia, Lamis L; Cheng, Feixiong F; Eng, Charis C

Publication Date: 2020-05-05

Variant appearance in text: MYPN: 59A>G; Y20C

PubMed Link: 32371905

Variant Present in the following documents:

• 41467_2020_16067_MOESM12_ESM.xlsx, sheet 3
• 41467_2020_16067_MOESM12_ESM.xlsx, sheet 9
• 41467_2020_16067_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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The GenomeAsia 100K Project enables genetic discoveries across Asia.

Nature

,

Publication Date: 2019-12

Variant appearance in text: MYPN: 59A>G; Tyr20Cys; rs140148105

PubMed Link: 31802016

Variant Present in the following documents:

• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 14
• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 15

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: MYPN: 59A>G; Tyr20Cys; rs140148105

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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Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors.

Cell Reports

Vigilante, Alessandra A; Laddach, Anna A; Moens, Nathalie N; Meleckyte, Ruta R; Leha, Andreas A; Ghahramani, Arsham A; Culley, Oliver J OJ; Kathuria, Annie A; Hurling, Chloe C; Vickers, Alice A; Wiseman, Erika E; Tewary, Mukul M; Zandstra, Peter W PW; , ; Durbin, Richard R; Fraternali, Franca F; Stegle, Oliver O; Birney, Ewan E; Luscombe, Nicholas M NM; Danovi, Davide D; Watt, Fiona M FM

Publication Date: 2019-02-19

Variant appearance in text: MYPN: Y20C

PubMed Link: 30784590

Variant Present in the following documents:

• mmc6.xlsx, sheet 3
• mmc6.xlsx, sheet 1
• mmc6.xlsx, sheet 2

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: MYPN: Y20C

PubMed Link: 30764827

Variant Present in the following documents:

• Main text
• 12920_2019_Article_478.pdf

View BVdb publication page

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Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.

Circulation. Genomic And Precision Medicine

Ingles, Jodie J; Goldstein, Jennifer J; Thaxton, Courtney C; Caleshu, Colleen C; Corty, Edward W EW; Crowley, Stephanie B SB; Dougherty, Kristen K; Harrison, Steven M SM; McGlaughon, Jennifer J; Milko, Laura V LV; Morales, Ana A; Seifert, Bryce A BA; Strande, Natasha N; Thomson, Kate K; Peter van Tintelen, J J; Wallace, Kathleen K; Walsh, Roddy R; Wells, Quinn Q; Whiffin, Nicola N; Witkowski, Leora L; Semsarian, Christopher C; Ware, James S JS; Hershberger, Ray E RE; Funke, Birgit B

Publication Date: 2019-02

Variant appearance in text: MYPN: 59A>G; Tyr20Cys

PubMed Link: 30681346

Variant Present in the following documents:

• hcg-12-e002460-s002.xlsx, sheet 8

View BVdb publication page

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Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.

Human Genomics

Fichna, Jakub Piotr JP; Macias, Anna A; Piechota, Marcin M; Korostyński, Michał M; Potulska-Chromik, Anna A; Redowicz, Maria Jolanta MJ; Zekanowski, Cezary C

Publication Date: 2018-07-03

Variant appearance in text: MYPN: 59A>G; Tyr20Cys; rs140148105

PubMed Link: 29970176

Variant Present in the following documents:

• 40246_2018_167_MOESM3_ESM.xlsx, sheet 3

View BVdb publication page

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Defining the diagnostic effectiveness of genes for inclusion in panels: the experience of two decades of genetic testing for hypertrophic cardiomyopathy at a single center.

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

Mazzarotto, Francesco F; Girolami, Francesca F; Boschi, Beatrice B; Barlocco, Fausto F; Tomberli, Alessia A; Baldini, Katia K; Coppini, Raffaele R; Tanini, Ilaria I; Bardi, Sara S; Contini, Elisa E; Cecchi, Franco F; Pelo, Elisabetta E; Cook, Stuart A SA; Cerbai, Elisabetta E; Poggesi, Corrado C; Torricelli, Francesca F; Walsh, Roddy R; Olivotto, Iacopo I

Publication Date: 2019-02

Variant appearance in text: MYPN: Tyr20Cys

PubMed Link: 29875424

Variant Present in the following documents:

• 41436_2018_46_MOESM1_ESM.xlsx, sheet 3
• 41436_2018_46_MOESM1_ESM.xlsx, sheet 5

View BVdb publication page

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Role of copy number variants in sudden cardiac death and related diseases: genetic analysis and translation into clinical practice.

European Journal Of Human Genetics : Ejhg

Mates, Jesus J; Mademont-Soler, Irene I; Del Olmo, Bernat B; Ferrer-Costa, Carles C; Coll, Monica M; Pérez-Serra, Alexandra A; Picó, Ferran F; Allegue, Catarina C; Fernandez-Falgueras, Anna A; Álvarez, Patricia P; Yotti, Raquel R; Espinosa, Maria Angeles MA; Sarquella-Brugada, Georgia G; Cesar, Sergi S; Carro, Ester E; Brugada, Josep J; Arbelo, Elena E; Garcia-Pavia, Pablo P; Borregan, Mar M; Tizzano, Eduardo E; López-Granados, Amador A; Mazuelos, Francisco F; Díaz de Bustamante, Aranzazu A; Darnaude, Maria Teresa MT; González-Hevia, José Ignacio JI; Díaz-Flores, Felícitas F; Trujillo, Francisco F; Iglesias, Anna A; Fernandez-Aviles, Francisco F; Campuzano, Oscar O; Brugada, Ramon R

Publication Date: 2018-07

Variant appearance in text: MYPN: 59A>G; Tyr20Cys

PubMed Link: 29511324

Variant Present in the following documents:

• Main text

View BVdb publication page

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Estimating the mutational load for cardiovascular diseases in Pakistani population.

Plos One

Shakeel, Muhammad M; Irfan, Muhammad M; Khan, Ishtiaq Ahmad IA

Publication Date: 2018

Variant appearance in text: rs140148105

PubMed Link: 29420653

Variant Present in the following documents:

• pone.0192446.s009.xlsx, sheet 2

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: MYPN: 59A>G; Tyr20Cys

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: MYPN: Y20C; rs140148105

PubMed Link: 28440294

Variant Present in the following documents:

• srep46105-s2.xls, sheet 6
• srep46105-s2.xls, sheet 8

View BVdb publication page

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Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genes.

European Heart Journal

Walsh, Roddy R; Buchan, Rachel R; Wilk, Alicja A; John, Shibu S; Felkin, Leanne E LE; Thomson, Kate L KL; Chiaw, Tang Hak TH; Loong, Calvin Chin Woon CCW; Pua, Chee Jian CJ; Raphael, Claire C; Prasad, Sanjay S; Barton, Paul J PJ; Funke, Birgit B; Watkins, Hugh H; Ware, James S JS; Cook, Stuart A SA

Publication Date: 2017-12-07

Variant appearance in text: MYPN: Y20C

PubMed Link: 28082330

Variant Present in the following documents:

• Main text
• ehw603_supplementary_tables_s1_s5_s7.xlsx, sheet 2

View BVdb publication page

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Analyses of more than 60,000 exomes questions the role of numerous genes previously associated with dilated cardiomyopathy.

Molecular Genetics & Genomic Medicine

Nouhravesh, Nina N; Ahlberg, Gustav G; Ghouse, Jonas J; Andreasen, Charlotte C; Svendsen, Jesper H JH; Haunsø, Stig S; Bundgaard, Henning H; Weeke, Peter E PE; Olesen, Morten S MS

Publication Date: 2016-11

Variant appearance in text: MYPN: 59A>G; Y20C

PubMed Link: 27896284

Variant Present in the following documents:

• Main text

View BVdb publication page

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Diagnostic yield of molecular autopsy in patients with sudden arrhythmic death syndrome using targeted exome sequencing.

Europace : European Pacing, Arrhythmias, And Cardiac Electrophysiology : Journal Of The Working Groups On Cardiac Pacing, Arrhythmias, And Cardiac Cellular Electrophysiology Of The European Society Of Cardiology

Nunn, Laurence M LM; Lopes, Luis R LR; Syrris, Petros P; Murphy, Cian C; Plagnol, Vincent V; Firman, Eileen E; Dalageorgou, Chrysoula C; Zorio, Esther E; Domingo, Diana D; Murday, Victoria V; Findlay, Iain I; Duncan, Alexis A; Carr-White, Gerry G; Robert, Leema L; Bueser, Teofila T; Langman, Caroline C; Fynn, Simon P SP; Goddard, Martin M; White, Anne A; Bundgaard, Henning H; Ferrero-Miliani, Laura L; Wheeldon, Nigel N; Suvarna, Simon K SK; O'Beirne, Aliceson A; Lowe, Martin D MD; McKenna, William J WJ; Elliott, Perry M PM; Lambiase, Pier D PD

Publication Date: 2016-06

Variant appearance in text: MYPN: Y20C

PubMed Link: 26498160

Variant Present in the following documents:

• Main text

View BVdb publication page

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Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.

Scientific Reports

Steinberg, Karyn Meltz KM; Yu, Bing B; Koboldt, Daniel C DC; Mardis, Elaine R ER; Pamphlett, Roger R

Publication Date: 2015-03-16

Variant appearance in text: MYPN: Y20C; rs140148105

PubMed Link: 25773295

Variant Present in the following documents:

• srep09124-s3.xls, sheet 1

View BVdb publication page

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Disturbance in Z-disk mechanosensitive proteins induced by a persistent mutant myopalladin causes familial restrictive cardiomyopathy.

Journal Of The American College Of Cardiology

Huby, Anne-Cecile AC; Mendsaikhan, Uzmee U; Takagi, Ken K; Martherus, Ruben R; Wansapura, Janaka J; Gong, Nan N; Osinska, Hanna H; James, Jeanne F JF; Kramer, Kristen K; Saito, Kazuyoshi K; Robbins, Jeffrey J; Khuchua, Zaza Z; Towbin, Jeffrey A JA; Purevjav, Enkhsaikhan E

Publication Date: 2014-12-30

Variant appearance in text: MYPN: Y20C

PubMed Link: 25541130

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: MYPN: Y20C

PubMed Link: 23299917

Variant Present in the following documents:

• ejhg2012283a.pdf

View BVdb publication page

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Novel mutations in the sarcomeric protein myopalladin in patients with dilated cardiomyopathy.

European Journal Of Human Genetics : Ejhg

Meyer, Thomas T; Ruppert, Volker V; Ackermann, Sarah S; Richter, Anette A; Perrot, Andreas A; Sperling, Silke R SR; Posch, Maximilian G MG; Maisch, Bernhard B; Pankuweit, Sabine S; ,

Publication Date: 2013-03

Variant appearance in text: MYPN: Y20C

PubMed Link: 22892539

Variant Present in the following documents:

• Main text

View BVdb publication page

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Molecular basis for clinical heterogeneity in inherited cardiomyopathies due to myopalladin mutations.

Human Molecular Genetics

Purevjav, Enkhsaikhan E; Arimura, Takuro T; Augustin, Sibylle S; Huby, Anne-Cecile AC; Takagi, Ken K; Nunoda, Shinichi S; Kearney, Debra L DL; Taylor, Michael D MD; Terasaki, Fumio F; Bos, Johan M JM; Ommen, Steve R SR; Shibata, Hiroki H; Takahashi, Megumi M; Itoh-Satoh, Manatsu M; McKenna, William J WJ; Murphy, Ross T RT; Labeit, Siegfried S; Yamanaka, Yoichi Y; Machida, Noboru N; Park, Jeong-Euy JE; Alexander, Peta M A PM; Weintraub, Robert G RG; Kitaura, Yasushi Y; Ackerman, Michael J MJ; Kimura, Akinori A; Towbin, Jeffrey A JA

Publication Date: 2012-05-01

Variant appearance in text: MYPN: 59A>G; Y20C; rs140148105

PubMed Link: 22286171

Variant Present in the following documents:

• Main text

View BVdb publication page

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