MYBPC3 c.2827C>T ;(p.R943*)

Variant ID: 11-47356671-G-A

NM_000256.3(MYBPC3):c.2827C>T;(p.R943*)

This variant was identified in 64 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: MYBPC3: 2827C>T; Arg943Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Prevalence and Disease Expression of Pathogenic and Likely Pathogenic Variants Associated With Inherited Cardiomyopathies in the General Population.

Circulation. Genomic And Precision Medicine
Bourfiss, Mimount M; van Vugt, Marion M; Alasiri, Abdulrahman I AI; Ruijsink, Bram B; Setten, Jessica van JV; Schmidt, Amand F AF; Dooijes, Dennis D; Puyol-Antón, Esther E; Velthuis, Birgitta K BK; Tintelen, J Peter van JPV; Te Riele, Anneline S J M ASJM; Baas, Annette F AF; Asselbergs, Folkert W FW
Publication Date: 2022-10-20

Variant appearance in text: MYBPC3: Arg943Ter; rs387907267
PubMed Link: 36264615
Variant Present in the following documents:
  • hcg-15-e003704-s001.pdf
View BVdb publication page



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: MYBPC3: 2827C>T; Arg943*
PubMed Link: 36178741
Variant Present in the following documents:
  • hcg-15-e002981.pdf
View BVdb publication page



Embryo tracking system for high-throughput sequencing-based preimplantation genetic testing.

Human Reproduction (Oxford, England)
van Dijk, Wanwisa W; Derks, Kasper K; Drüsedau, Marion M; Meekels, Jeroen J; Koeck, Rebekka R; Essers, Rick R; Dreesen, Joseph J; Coonen, Edith E; de Die-Smulders, Christine C; Stevens, Servi J C SJC; Brunner, Han G HG; van den Wijngaard, Arthur A; Paulussen, Aimée D C ADC; Zamani Esteki, Masoud M
Publication Date: 2022-10-31

Variant appearance in text: MYBPC3: 2827C>T; Arg943*
PubMed Link: 36149256
Variant Present in the following documents:
  • deac208_supplementary_table_sii.xlsx, sheet 1
View BVdb publication page



Diagnostic Yield of Genetic Testing in Young Patients With Atrioventricular Block of Unknown Cause.

Journal Of The American Heart Association
Resdal Dyssekilde, Johnni J; Frederiksen, Tanja Charlotte TC; Christiansen, Morten Krogh MK; Hasle Sørensen, Rikke R; Pedersen, Lisbeth Nørum LN; Loof Møller, Peter P; Christensen, Lene Svendstrup LS; Larsen, Jacob Moesgaard JM; Thomsen, Kristian Korsgaard KK; Lindhardt, Tommi Bo TB; Böttcher, Morten M; Molsted, Stig S; Havndrup, Ole O; Fischer, Thomas T; Møller, Dorthe Svenstrup DS; Henriksen, Finn Lund FL; Johansen, Jens Brock JB; Nielsen, Jens Cosedis JC; Bundgaard, Henning H; Nygaard, Mette M; Jensen, Henrik Kjærulf HK
Publication Date: 2022-05-03

Variant appearance in text: MYBPC3: 2827C>T; Arg943*
PubMed Link: 35470684
Variant Present in the following documents:
  • Main text
  • JAH3-11-e025643.pdf
View BVdb publication page



Genetic Clues on Implantable Cardioverter-Defibrillator Placement in Young-Age Hypertrophic Cardiomyopathy: A Case Report of Novel MYH7 Mutation and Literature Review.

Frontiers In Cardiovascular Medicine
Li, Xing X; Tang, Jie J; Li, Jinhui J; Lin, Sha S; Wang, Tao T; Zhou, Kaiyu K; Li, Yifei Y; Hua, Yimin Y
Publication Date: 2021

Variant appearance in text: MYBPC3: 2827C>T; Arg943X
PubMed Link: 35004917
Variant Present in the following documents:
  • Main text
  • fcvm-08-810291.pdf
View BVdb publication page



C-MORE: A high-content single-cell morphology recognition methodology for liquid biopsies toward personalized cardiovascular medicine.

Cell Reports. Medicine
Furkel, Jennifer J; Knoll, Maximilian M; Din, Shabana S; Bogert, Nicolai V NV; Seeger, Timon T; Frey, Norbert N; Abdollahi, Amir A; Katus, Hugo A HA; Konstandin, Mathias H MH
Publication Date: 2021-11-16

Variant appearance in text: MYBPC3: R943x
PubMed Link: 34841289
Variant Present in the following documents:
  • Main text
View BVdb publication page



Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.

Orphanet Journal Of Rare Diseases
Lin, Yubi Y; Huang, Jiana J; Zhu, Zhiling Z; Zhang, Zuoquan Z; Xian, Jianzhong J; Yang, Zhe Z; Qin, Tingfeng T; Chen, Linxi L; Huang, Jingmin J; Huang, Yin Y; Wu, Qiaoyun Q; Hu, Zhenyu Z; Lin, Xiufang X; Xu, Geyang G
Publication Date: 2021-11-24

Variant appearance in text: MYBPC3: 2827C>T; R943X
PubMed Link: 34819141
Variant Present in the following documents:
  • Main text
  • 13023_2021_Article_2112.pdf
View BVdb publication page



Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.

Orphanet Journal Of Rare Diseases
Lin, Yubi Y; Huang, Jiana J; Zhu, Zhiling Z; Zhang, Zuoquan Z; Xian, Jianzhong J; Yang, Zhe Z; Qin, Tingfeng T; Chen, Linxi L; Huang, Jingmin J; Huang, Yin Y; Wu, Qiaoyun Q; Hu, Zhenyu Z; Lin, Xiufang X; Xu, Geyang G
Publication Date: 2021-11-24

Variant appearance in text: MYBPC3: 2827C>T; R943X
PubMed Link: 34819141
Variant Present in the following documents:
  • Main text
  • 13023_2021_Article_2112.pdf
View BVdb publication page



Uncovering Inherited Cardiomyopathy With Human Induced Pluripotent Stem Cells.

Frontiers In Cell And Developmental Biology
Jiang, Xue X; Chen, Yihuan Y; Liu, Xiaofeng X; Ye, Lingqun L; Yu, Miao M; Shen, Zhenya Z; Lei, Wei W; Hu, Shijun S
Publication Date: 2021

Variant appearance in text: MYBPC3: R943X
PubMed Link: 34079803
Variant Present in the following documents:
  • Main text
  • fcell-09-672039.pdf
View BVdb publication page



Phenotypic Diversity of Cardiomyopathy Caused by an MYBPC3 Frameshift Mutation in a Korean Family: A Case Report.

Medicina (Kaunas, Lithuania)
Park, Joonhong J; Lee, Jong-Min JM; Cho, Jung Sun JS
Publication Date: 2021-03-18

Variant appearance in text: MYBPC3: 2827C>T
PubMed Link: 33803538
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic Cardiomyopathies: The Lesson Learned from hiPSCs.

Journal Of Clinical Medicine
My, Ilaria I; Di Pasquale, Elisa E
Publication Date: 2021-03-09

Variant appearance in text: MYBPC3: R943X
PubMed Link: 33803477
Variant Present in the following documents:
  • Main text
View BVdb publication page



Multi-omics integration identifies key upstream regulators of pathomechanisms in hypertrophic cardiomyopathy due to truncating MYBPC3 mutations.

Clinical Epigenetics
Pei, J J; Schuldt, M M; Nagyova, E E; Gu, Z Z; El Bouhaddani, S S; Yiangou, L L; Jansen, M M; Calis, J J A JJA; Dorsch, L M LM; Blok, C Snijders CS; van den Dungen, N A M NAM; Lansu, N N; Boukens, B J BJ; Efimov, I R IR; Michels, M M; Verhaar, M C MC; de Weger, R R; Vink, A A; van Steenbeek, F G FG; Baas, A F AF; Davis, R P RP; Uh, H W HW; Kuster, D W D DWD; Cheng, C C; Mokry, M M; van der Velden, J J; Asselbergs, F W FW; Harakalova, M M
Publication Date: 2021-03-23

Variant appearance in text: rs387907267
PubMed Link: 33757590
Variant Present in the following documents:
  • Main text
  • 13148_2021_Article_1043.pdf
View BVdb publication page



Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients.

Bmc Cardiovascular Disorders
Hathaway, Julie J; Heliö, Krista K; Saarinen, Inka I; Tallila, Jonna J; Seppälä, Eija H EH; Tuupanen, Sari S; Turpeinen, Hannu H; Kangas-Kontio, Tiia T; Schleit, Jennifer J; Tommiska, Johanna J; Kytölä, Ville V; Valori, Miko M; Muona, Mikko M; Sistonen, Johanna J; Gentile, Massimiliano M; Salmenperä, Pertteli P; Myllykangas, Samuel S; Paananen, Jussi J; Alastalo, Tero-Pekka TP; Heliö, Tiina T; Koskenvuo, Juha J
Publication Date: 2021-03-05

Variant appearance in text: MYBPC3: 2827C>T; Arg943*
PubMed Link: 33673806
Variant Present in the following documents:
  • 12872_2021_1927_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



P62-positive aggregates are homogenously distributed in the myocardium and associated with the type of mutation in genetic cardiomyopathy.

Journal Of Cellular And Molecular Medicine
van der Klooster, Zoë Joy ZJ; Sepehrkhouy, Shahrzad S; Dooijes, Dennis D; Te Rijdt, Wouter P WP; Schuiringa, Frederique S A M FSAM; Lingeman, Jolanthe J; van Tintelen, Johannes Peter JP; Harakalova, Magdalena M; Goldschmeding, Roel R; Suurmeijer, Albert J H AJH; Asselbergs, Folkert W FW; Vink, Aryan A
Publication Date: 2021-03

Variant appearance in text: MYBPC3: 2827C>T; Arg943*
PubMed Link: 33605084
Variant Present in the following documents:
  • JCMM-25-3160-s001.pdf
View BVdb publication page



Systematic large-scale assessment of the genetic architecture of left ventricular noncompaction reveals diverse etiologies.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Mazzarotto, Francesco F; Hawley, Megan H MH; Beltrami, Matteo M; Beekman, Leander L; de Marvao, Antonio A; McGurk, Kathryn A KA; Statton, Ben B; Boschi, Beatrice B; Girolami, Francesca F; Roberts, Angharad M AM; Lodder, Elisabeth M EM; Allouba, Mona M; Romeih, Soha S; Aguib, Yasmine Y; Baksi, A John AJ; Pantazis, Antonis A; Prasad, Sanjay K SK; Cerbai, Elisabetta E; Yacoub, Magdi H MH; O'Regan, Declan P DP; Cook, Stuart A SA; Ware, James S JS; Funke, Birgit B; Olivotto, Iacopo I; Bezzina, Connie R CR; Barton, Paul J R PJR; Walsh, Roddy R
Publication Date: 2021-05

Variant appearance in text: MYBPC3: 2827C>T; Arg943X
PubMed Link: 33500567
Variant Present in the following documents:
  • 41436_2020_1049_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect.

Nature Genetics
Tadros, Rafik R; Francis, Catherine C; Xu, Xiao X; Vermeer, Alexa M C AMC; Harper, Andrew R AR; Huurman, Roy R; Kelu Bisabu, Ken K; Walsh, Roddy R; Hoorntje, Edgar T ET; Te Rijdt, Wouter P WP; Buchan, Rachel J RJ; van Velzen, Hannah G HG; van Slegtenhorst, Marjon A MA; Vermeulen, Jentien M JM; Offerhaus, Joost Allard JA; Bai, Wenjia W; de Marvao, Antonio A; Lahrouchi, Najim N; Beekman, Leander L; Karper, Jacco C JC; Veldink, Jan H JH; Kayvanpour, Elham E; Pantazis, Antonis A; Baksi, A John AJ; Whiffin, Nicola N; Mazzarotto, Francesco F; Sloane, Geraldine G; Suzuki, Hideaki H; Schneider-Luftman, Deborah D; Elliott, Paul P; Richard, Pascale P; Ader, Flavie F; Villard, Eric E; Lichtner, Peter P; Meitinger, Thomas T; Tanck, Michael W T MWT; van Tintelen, J Peter JP; Thain, Andrew A; McCarty, David D; Hegele, Robert A RA; Roberts, Jason D JD; Amyot, Julie J; Dubé, Marie-Pierre MP; Cadrin-Tourigny, Julia J; Giraldeau, Geneviève G; L'Allier, Philippe L PL; Garceau, Patrick P; Tardif, Jean-Claude JC; Boekholdt, S Matthijs SM; Lumbers, R Thomas RT; Asselbergs, Folkert W FW; Barton, Paul J R PJR; Cook, Stuart A SA; Prasad, Sanjay K SK; O'Regan, Declan P DP; van der Velden, Jolanda J; Verweij, Karin J H KJH; Talajic, Mario M; Lettre, Guillaume G; Pinto, Yigal M YM; Meder, Benjamin B; Charron, Philippe P; de Boer, Rudolf A RA; Christiaans, Imke I; Michels, Michelle M; Wilde, Arthur A M AAM; Watkins, Hugh H; Matthews, Paul M PM; Ware, James S JS; Bezzina, Connie R CR
Publication Date: 2021-02

Variant appearance in text: MYBPC3: 2827C>T
PubMed Link: 33495596
Variant Present in the following documents:
  • Main text
  • EMS114661-supplement-Supplementary_Tables.xlsx, sheet 3
View BVdb publication page



Proteomic and Functional Studies Reveal Detyrosinated Tubulin as Treatment Target in Sarcomere Mutation-Induced Hypertrophic Cardiomyopathy.

Circulation. Heart Failure
Schuldt, Maike M; Pei, Jiayi J; Harakalova, Magdalena M; Dorsch, Larissa M LM; Schlossarek, Saskia S; Mokry, Michal M; Knol, Jaco C JC; Pham, Thang V TV; Schelfhorst, Tim T; Piersma, Sander R SR; Dos Remedios, Cris C; Dalinghaus, Michiel M; Michels, Michelle M; Asselbergs, Folkert W FW; Moutin, Marie-Jo MJ; Carrier, Lucie L; Jimenez, Connie R CR; van der Velden, Jolanda J; Kuster, Diederik W D DWD
Publication Date: 2021-01

Variant appearance in text: MYBPC3: 2827C>T; R943X
PubMed Link: 33430602
Variant Present in the following documents:
  • hhf-14-e007022-s001.pdf
View BVdb publication page



2020 APHRS/HRS expert consensus statement on the investigation of decedents with sudden unexplained death and patients with sudden cardiac arrest, and of their families.

Heart Rhythm
Stiles, Martin K MK; Wilde, Arthur A M AAM; Abrams, Dominic J DJ; Ackerman, Michael J MJ; Albert, Christine M CM; Behr, Elijah R ER; Chugh, Sumeet S SS; Cornel, Martina C MC; Gardner, Karen K; Ingles, Jodie J; James, Cynthia A CA; Jimmy Juang, Jyh-Ming JM; Kääb, Stefan S; Kaufman, Elizabeth S ES; Krahn, Andrew D AD; Lubitz, Steven A SA; MacLeod, Heather H; Morillo, Carlos A CA; Nademanee, Koonlawee K; Probst, Vincent V; Saarel, Elizabeth V EV; Sacilotto, Luciana L; Semsarian, Christopher C; Sheppard, Mary N MN; Shimizu, Wataru W; Skinner, Jonathan R JR; Tfelt-Hansen, Jacob J; Wang, Dao Wu DW
Publication Date: 2021-01

Variant appearance in text: MYBPC3: Arg943X
PubMed Link: 33091602
Variant Present in the following documents:
  • NIHMS1704401-supplement-supplementary_Appendix_3.pdf
View BVdb publication page



Drug Development and the Use of Induced Pluripotent Stem Cell-Derived Cardiomyocytes for Disease Modeling and Drug Toxicity Screening.

International Journal Of Molecular Sciences
Ovics, Paz P; Regev, Danielle D; Baskin, Polina P; Davidor, Mor M; Shemer, Yuval Y; Neeman, Shunit S; Ben-Haim, Yael Y; Binah, Ofer O
Publication Date: 2020-10-03

Variant appearance in text: MYBPC3: R943x
PubMed Link: 33023024
Variant Present in the following documents:
  • Main text
  • ijms-21-07320.pdf
View BVdb publication page



Spatial and Functional Distribution of MYBPC3 Pathogenic Variants and Clinical Outcomes in Patients With Hypertrophic Cardiomyopathy.

Circulation. Genomic And Precision Medicine
Helms, Adam S AS; Thompson, Andrea D AD; Glazier, Amelia A AA; Hafeez, Neha N; Kabani, Samat S; Rodriguez, Juliani J; Yob, Jaime M JM; Woolcock, Helen H; Mazzarotto, Francesco F; Lakdawala, Neal K NK; Wittekind, Samuel G SG; Pereira, Alexandre C AC; Jacoby, Daniel L DL; Colan, Steven D SD; Ashley, Euan A EA; Saberi, Sara S; Ware, James S JS; Ingles, Jodie J; Semsarian, Christopher C; Michels, Michelle M; Olivotto, Iacopo I; Ho, Carolyn Y CY; Day, Sharlene M SM
Publication Date: 2020-10

Variant appearance in text: MYBPC3: 2827C>T
PubMed Link: 32841044
Variant Present in the following documents:
  • Main text
  • hcg-13-396-s002.pdf
  • hcg-13-396.pdf
  • hcg-13-396-s001.pdf
View BVdb publication page



Reduced penetrance of pathogenic ACMG variants in a deeply phenotyped cohort study and evaluation of ClinVar classification over time.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
van Rooij, Jeroen J; Arp, Pascal P; Broer, Linda L; Verlouw, Joost J; van Rooij, Frank F; Kraaij, Robert R; Uitterlinden, André A; Verkerk, Annemieke J M H AJMH
Publication Date: 2020-11

Variant appearance in text: MYBPC3: 2827C>T; Arg943Ter; rs387907267
PubMed Link: 32665702
Variant Present in the following documents:
  • Main text
  • 41436_2020_Article_900.pdf
View BVdb publication page



Sex-specific cardiac remodeling in early and advanced stages of hypertrophic cardiomyopathy.

Plos One
Nijenkamp, Louise L A M LLAM; Bollen, Ilse A E IAE; Niessen, Hans W M HWM; Dos Remedios, Cris G CG; Michels, Michelle M; Poggesi, Corrado C; Ho, Carolyn Y CY; Kuster, Diederik W D DWD; van der Velden, Jolanda J
Publication Date: 2020

Variant appearance in text: MYBPC3: R943x
PubMed Link: 32369506
Variant Present in the following documents:
  • Main text
View BVdb publication page



Hypertrophic cardiomyopathy in myosin-binding protein C (MYBPC3) Icelandic founder mutation carriers.

Open Heart
Adalsteinsdottir, Berglind B; Burke, Michael M; Maron, Barry J BJ; Danielsen, Ragnar R; Lopez, Begoña B; Diez, Javier J; Jarolim, Petr P; Seidman, Jonathan J; Seidman, Christine E CE; Ho, Carolyn Y CY; Gunnarsson, Gunnar Th GT
Publication Date: 2020

Variant appearance in text: MYBPC3: 2827C>T
PubMed Link: 32341788
Variant Present in the following documents:
  • Main text
View BVdb publication page



Reanalysis and reclassification of rare genetic variants associated with inherited arrhythmogenic syndromes.

Ebiomedicine
Campuzano, Oscar O; Sarquella-Brugada, Georgia G; Fernandez-Falgueras, Anna A; Coll, Mónica M; Iglesias, Anna A; Ferrer-Costa, Carles C; Cesar, Sergi S; Arbelo, Elena E; García-Álvarez, Ana A; Jordà, Paloma P; Toro, Rocío R; Tiron de Llano, Coloma C; Grassi, Simone S; Oliva, Antonio A; Brugada, Josep J; Brugada, Ramon R
Publication Date: 2020-04

Variant appearance in text: MYBPC3: 2827C>T; Arg943*; rs387907267
PubMed Link: 32268277
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Reevaluation of the South Asian MYBPC3Δ25bp Intronic Deletion in Hypertrophic Cardiomyopathy.

Circulation. Genomic And Precision Medicine
Harper, Andrew R AR; Bowman, Michael M; Hayesmoore, Jesse B G JBG; Sage, Helen H; Salatino, Silvia S; Blair, Edward E; Campbell, Carolyn C; Currie, Bethany B; Goel, Anuj A; McGuire, Karen K; Ormondroyd, Elizabeth E; Sergeant, Kate K; Waring, Adam A; Woodley, Jessica J; Kramer, Christopher M CM; Neubauer, Stefan S; Farrall, Martin M; Watkins, Hugh H; Thomson, Kate L KL; ,
Publication Date: 2020-06

Variant appearance in text: MYBPC3: 2827C>T; Arg943Ter
PubMed Link: 32163302
Variant Present in the following documents:
  • hcg-13-e002783-s002.pdf
  • hcg-13-e002783.pdf
View BVdb publication page



Systematic Review of Genotype-Phenotype Correlations in Noncompaction Cardiomyopathy.

Journal Of The American Heart Association
van Waning, Jaap I JI; Moesker, Joost J; Heijsman, Daphne D; Boersma, Eric E; Majoor-Krakauer, Danielle D
Publication Date: 2019-12-03

Variant appearance in text: MYBPC3: 2827C>T; Arg943*
PubMed Link: 31771441
Variant Present in the following documents:
  • JAH3-8-e012993.pdf
  • JAH3-8-e012993-s001.pdf
View BVdb publication page



Human Induced Pluripotent Stem-Cell-Derived Cardiomyocytes as Models for Genetic Cardiomyopathies.

International Journal Of Molecular Sciences
Brodehl, Andreas A; Ebbinghaus, Hans H; Deutsch, Marcus-André MA; Gummert, Jan J; Gärtner, Anna A; Ratnavadivel, Sandra S; Milting, Hendrik H
Publication Date: 2019-09-06

Variant appearance in text: MYBPC3: R943X
PubMed Link: 31489928
Variant Present in the following documents:
  • Main text
  • ijms-20-04381.pdf
View BVdb publication page



Protein Quality Control Activation and Microtubule Remodeling in Hypertrophic Cardiomyopathy.

Cells
Dorsch, Larissa M LM; Schuldt, Maike M; dos Remedios, Cristobal G CG; Schinkel, Arend F L AFL; de Jong, Peter L PL; Michels, Michelle M; Kuster, Diederik W D DWD; Brundel, Bianca J J M BJJM; van der Velden, Jolanda J
Publication Date: 2019-07-18

Variant appearance in text: MYBPC3: 2827C>T
PubMed Link: 31323898
Variant Present in the following documents:
  • Main text
View BVdb publication page



Yield of Clinical Screening for Hypertrophic Cardiomyopathy in Child First-Degree Relatives.

Circulation
Norrish, Gabrielle G; Jager, Joanna J; Field, Ella E; Quinn, Ellie E; Fell, Hannah H; Lord, Emma E; Cicerchia, Marcos N MN; Ochoa, Juan Pablo JP; Cervi, Elena E; Elliott, Perry M PM; Kaski, Juan Pablo JP
Publication Date: 2019-07-16

Variant appearance in text: MYBPC3: 2827C>T; Arg943*
PubMed Link: 31006259
Variant Present in the following documents:
  • cir-140-184-s001.pdf
View BVdb publication page



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: MYBPC3: 2827C>T; Arg943*; rs387907267
PubMed Link: 30847666
Variant Present in the following documents:
  • 12471_2019_1250_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Fatal neonatal hypertrophic cardiomyopathy caused by compound heterozygous truncating MYBPC3 mutation.

Netherlands Heart Journal : Monthly Journal Of The Netherlands Society Of Cardiology And The Netherlands Heart Foundation
Alsters, S S; Wong, L L; Peferoen, L L; Niessen, H W M HWM; Bikker, H H; Elting, M W MW; Houweling, A C AC
Publication Date: 2019-05

Variant appearance in text: MYBPC3: 2827C>T; Arg943*
PubMed Link: 30742251
Variant Present in the following documents:
  • 12471_2019_Article_1245.pdf
View BVdb publication page



Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathy.

Genome Medicine
Walsh, Roddy R; Mazzarotto, Francesco F; Whiffin, Nicola N; Buchan, Rachel R; Midwinter, William W; Wilk, Alicja A; Li, Nicholas N; Felkin, Leanne L; Ingold, Nathan N; Govind, Risha R; Ahmad, Mian M; Mazaika, Erica E; Allouba, Mona M; Zhang, Xiaolei X; de Marvao, Antonio A; Day, Sharlene M SM; Ashley, Euan E; Colan, Steven D SD; Michels, Michelle M; Pereira, Alexandre C AC; Jacoby, Daniel D; Ho, Carolyn Y CY; Thomson, Kate L KL; Watkins, Hugh H; Barton, Paul J R PJR; Olivotto, Iacopo I; Cook, Stuart A SA; Ware, James S JS
Publication Date: 2019-01-29

Variant appearance in text: MYBPC3: 2827C>T; R943X
PubMed Link: 30696458
Variant Present in the following documents:
  • 13073_2019_616_MOESM1_ESM.xlsx, sheet 6
View BVdb publication page



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: MYBPC3: 2827C>T; Arg943X; rs387907267
PubMed Link: 30681346
Variant Present in the following documents:
  • hcg-12-e002460-s002.xlsx, sheet 8
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: MYBPC3: R943X
PubMed Link: 30665703
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



A Premature Termination Codon Mutation in MYBPC3 Causes Hypertrophic Cardiomyopathy via Chronic Activation of Nonsense-Mediated Decay.

Circulation
Seeger, Timon T; Shrestha, Rajani R; Lam, Chi Keung CK; Chen, Caressa C; McKeithan, Wesley L WL; Lau, Edward E; Wnorowski, Alexa A; McMullen, George G; Greenhaw, Matthew M; Lee, Jaecheol J; Oikonomopoulos, Angelos A; Lee, Soah S; Yang, Huaxiao H; Mercola, Mark M; Wheeler, Matthew M; Ashley, Euan A EA; Yang, Fan F; Karakikes, Ioannis I; Wu, Joseph C JC
Publication Date: 2019-02-05

Variant appearance in text: MYBPC3: R943x
PubMed Link: 30586709
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular analysis of inherited cardiomyopathy using next generation semiconductor sequencing technologies.

Journal Of Translational Medicine
Lu, Chaoxia C; Wu, Wei W; Liu, Fang F; Yang, Kunqi K; Li, Jiacheng J; Liu, Yaping Y; Wang, Rongrong R; Si, Nuo N; Gao, Peng P; Liu, Yongtai Y; Zhang, Shuyang S; Zhang, Xue X
Publication Date: 2018-08-30

Variant appearance in text: MYBPC3: 2827C>T; Arg943Ter
PubMed Link: 30165862
Variant Present in the following documents:
  • Main text
  • 12967_2018_1605_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Telomere shortening is a hallmark of genetic cardiomyopathies.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Chang, Alex C Y ACY; Chang, Andrew C H ACH; Kirillova, Anna A; Sasagawa, Koki K; Su, Willis W; Weber, Gerhard G; Lin, Jue J; Termglinchan, Vittavat V; Karakikes, Ioannis I; Seeger, Timon T; Dainis, Alexandra M AM; Hinson, John T JT; Seidman, Jonathan J; Seidman, Christine E CE; Day, John W JW; Ashley, Euan E; Wu, Joseph C JC; Blau, Helen M HM
Publication Date: 2018-09-11

Variant appearance in text: MYBPC3: R943x
PubMed Link: 30150400
Variant Present in the following documents:
  • Main text
  • pnas.201714538.pdf
View BVdb publication page



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: rs387907267
PubMed Link: 29420653
Variant Present in the following documents:
  • pone.0192446.s009.xlsx, sheet 2
View BVdb publication page



A Comparison of Whole Genome Sequencing to Multigene Panel Testing in Hypertrophic Cardiomyopathy Patients.

Circulation. Cardiovascular Genetics
Cirino, Allison L AL; Lakdawala, Neal K NK; McDonough, Barbara B; Conner, Lauren L; Adler, Dale D; Weinfeld, Mark M; O'Gara, Patrick P; Rehm, Heidi L HL; Machini, Kalotina K; Lebo, Matthew M; Blout, Carrie C; Green, Robert C RC; MacRae, Calum A CA; Seidman, Christine E CE; Ho, Carolyn Y CY; ,
Publication Date: 2017-10

Variant appearance in text: MYBPC3: 2827C>T; Arg943X
PubMed Link: 29030401
Variant Present in the following documents:
  • Main text
View BVdb publication page



Whole gene sequencing identifies deep-intronic variants with potential functional impact in patients with hypertrophic cardiomyopathy.

Plos One
Mendes de Almeida, Rita R; Tavares, Joana J; Martins, Sandra S; Carvalho, Teresa T; Enguita, Francisco J FJ; Brito, Dulce D; Carmo-Fonseca, Maria M; Lopes, Luís Rocha LR
Publication Date: 2017

Variant appearance in text: MYBPC3: 2827C>T; Arg943*; rs387907267
PubMed Link: 28797094
Variant Present in the following documents:
  • Main text
  • pone.0182946.pdf
View BVdb publication page



Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy.

Plos One
Mademont-Soler, Irene I; Mates, Jesus J; Yotti, Raquel R; Espinosa, Maria Angeles MA; Pérez-Serra, Alexandra A; Fernandez-Avila, Ana Isabel AI; Coll, Monica M; Méndez, Irene I; Iglesias, Anna A; Del Olmo, Bernat B; Riuró, Helena H; Cuenca, Sofía S; Allegue, Catarina C; Campuzano, Oscar O; Picó, Ferran F; Ferrer-Costa, Carles C; Álvarez, Patricia P; Castillo, Sergio S; Garcia-Pavia, Pablo P; Gonzalez-Lopez, Esther E; Padron-Barthe, Laura L; Díaz de Bustamante, Aranzazu A; Darnaude, María Teresa MT; González-Hevia, José Ignacio JI; Brugada, Josep J; Fernandez-Aviles, Francisco F; Brugada, Ramon R
Publication Date: 2017

Variant appearance in text: MYBPC3: 2827C>T; R943*; rs387907267
PubMed Link: 28771489
Variant Present in the following documents:
  • pone.0181465.s002.xlsx, sheet 1
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: MYBPC3: 2827C>T; Arg943Ter
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Multilevel genomics of colorectal cancers with microsatellite instability-clinical impact of JAK1 mutations and consensus molecular subtype 1.

Genome Medicine
Sveen, Anita A; Johannessen, Bjarne B; Tengs, Torstein T; Danielsen, Stine A SA; Eilertsen, Ina A IA; Lind, Guro E GE; Berg, Kaja C G KCG; Leithe, Edward E; Meza-Zepeda, Leonardo A LA; Domingo, Enric E; Myklebost, Ola O; Kerr, David D; Tomlinson, Ian I; Nesbakken, Arild A; Skotheim, Rolf I RI; Lothe, Ragnhild A RA
Publication Date: 2017-05-24

Variant appearance in text: MYBPC3: R943X
PubMed Link: 28539123
Variant Present in the following documents:
  • 13073_2017_434_MOESM1_ESM.xlsx, sheet 5
View BVdb publication page



Life-long tailoring of management for patients with hypertrophic cardiomyopathy : Awareness and decision-making in changing scenarios.

Netherlands Heart Journal : Monthly Journal Of The Netherlands Society Of Cardiology And The Netherlands Heart Foundation
Michels, M M; Olivotto, I I; Asselbergs, F W FW; van der Velden, J J
Publication Date: 2017-03

Variant appearance in text: MYBPC3: 2827C>T
PubMed Link: 28005231
Variant Present in the following documents:
  • 12471_2016_Article_943.pdf
View BVdb publication page



Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.

Cell Reports
Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA
Publication Date: 2016-04-26

Variant appearance in text: MYBPC3: R943*
PubMed Link: 27149842
Variant Present in the following documents:
  • mmc2.xlsx, sheet 4
View BVdb publication page



Comprehensive Versus Targeted Genetic Testing in Children with Hypertrophic Cardiomyopathy.

Pediatric Cardiology
Bales, Nathan D ND; Johnson, Nicole M NM; Judge, Daniel P DP; Murphy, Anne M AM
Publication Date: 2016-06

Variant appearance in text: MYBPC3: R943X
PubMed Link: 26936621
Variant Present in the following documents:
  • Main text
View BVdb publication page



Cardiac myosin-binding protein C (MYBPC3) in cardiac pathophysiology.

Gene
Carrier, Lucie L; Mearini, Giulia G; Stathopoulou, Konstantina K; Cuello, Friederike F
Publication Date: 2015-12-01

Variant appearance in text: MYBPC3: 2827C>T
PubMed Link: 26358504
Variant Present in the following documents:
  • Main text
View BVdb publication page



A Rapid, High-Quality, Cost-Effective, Comprehensive and Expandable Targeted Next-Generation Sequencing Assay for Inherited Heart Diseases.

Circulation Research
Wilson, Kitchener D KD; Shen, Peidong P; Fung, Eula E; Karakikes, Ioannis I; Zhang, Angela A; InanlooRahatloo, Kolsoum K; Odegaard, Justin J; Sallam, Karim K; Davis, Ronald W RW; Lui, George K GK; Ashley, Euan A EA; Scharfe, Curt C; Wu, Joseph C JC
Publication Date: 2015-09-11

Variant appearance in text: MYBPC3: R943X
PubMed Link: 26265630
Variant Present in the following documents:
  • Main text
View BVdb publication page



A systematic approach to the reporting of medically relevant findings from whole genome sequencing.

Bmc Medical Genetics
McLaughlin, Heather M HM; Ceyhan-Birsoy, Ozge O; Christensen, Kurt D KD; Kohane, Isaac S IS; Krier, Joel J; Lane, William J WJ; Lautenbach, Denise D; Lebo, Matthew S MS; Machini, Kalotina K; MacRae, Calum A CA; Azzariti, Danielle R DR; Murray, Michael F MF; Seidman, Christine E CE; Vassy, Jason L JL; Green, Robert C RC; Rehm, Heidi L HL; ,
Publication Date: 2014-12-14

Variant appearance in text: MYBPC3: Arg943X
PubMed Link: 25714468
Variant Present in the following documents:
  • Main text
  • 12881_2014_134_MOESM2_ESM.pdf
View BVdb publication page