Publications:

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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: TNNT2: 421C>T; Arg141Trp

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Suppression of lusitropy as a disease mechanism in cardiomyopathies.

Frontiers In Cardiovascular Medicine

Marston, Steven S; Pinto, Jose Renato JR

Publication Date: 2022

Variant appearance in text: TNNT2: R141W

PubMed Link: 36698941

Variant Present in the following documents:

• Main text
• fcvm-09-1080965.pdf

View BVdb publication page

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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: TNNT2: 421C>T; Arg141Trp

PubMed Link: 36149256

Variant Present in the following documents:

• deac208_supplementary_table_sii.xlsx, sheet 1

View BVdb publication page

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Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing.

Jama Cardiology

Dellefave-Castillo, Lisa M LM; Cirino, Allison L AL; Callis, Thomas E TE; Esplin, Edward D ED; Garcia, John J; Hatchell, Kathryn E KE; Johnson, Britt B; Morales, Ana A; Regalado, Ellen E; Rojahn, Susan S; Vatta, Matteo M; Nussbaum, Robert L RL; McNally, Elizabeth M EM

Publication Date: 2022-09-01

Variant appearance in text: TNNT2: 421C>T; Arg141Trp

PubMed Link: 35947370

Variant Present in the following documents:

• jamacardiol-e222455-s002.xlsx, sheet 1

View BVdb publication page

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Genotype and Cardiac Outcomes in Pediatric Dilated Cardiomyopathy.

Journal Of The American Heart Association

Khan, Rabia S RS; Pahl, Elfriede E; Dellefave-Castillo, Lisa L; Rychlik, Karen K; Ing, Alexander A; Yap, Kai Lee KL; Brew, Casey C; Johnston, Jamie R JR; McNally, Elizabeth M EM; Webster, Gregory G

Publication Date: 2022-01-04

Variant appearance in text: TNNT2: 421C>T; Arg141Trp

PubMed Link: 34935411

Variant Present in the following documents:

• JAH3-11-e022854-s001.pdf
• JAH3-11-e022854.pdf

View BVdb publication page

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Computational and biophysical determination of pathogenicity of variants of unknown significance in cardiac thin filament.

Jci Insight

Mason, Allison B AB; Lynn, Melissa L ML; Baldo, Anthony P AP; Deranek, Andrea E AE; Tardiff, Jil C JC; Schwartz, Steven D SD

Publication Date: 2021-12-08

Variant appearance in text: TNNT2: R141W

PubMed Link: 34699384

Variant Present in the following documents:

• Main text

View BVdb publication page

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Computational and biophysical determination of pathogenicity of variants of unknown significance in cardiac thin filament.

Jci Insight

Mason, Allison B AB; Lynn, Melissa L ML; Baldo, Anthony P AP; Deranek, Andrea E AE; Tardiff, Jil C JC; Schwartz, Steven D SD

Publication Date: 2021-12-08

Variant appearance in text: TNNT2: R141W

PubMed Link: 34699384

Variant Present in the following documents:

• Main text

View BVdb publication page

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Cardiomyocyte Dysfunction in Inherited Cardiomyopathies.

International Journal Of Molecular Sciences

Hassoun, Roua R; Budde, Heidi H; Mügge, Andreas A; Hamdani, Nazha N

Publication Date: 2021-10-15

Variant appearance in text: TNNT2: R141W

PubMed Link: 34681814

Variant Present in the following documents:

• Main text
• ijms-22-11154.pdf

View BVdb publication page

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Prognostic implications of troponin T variations in inherited cardiomyopathies using systems biology.

Npj Genomic Medicine

Shakur, Rameen R; Ochoa, Juan Pablo JP; Robinson, Alan J AJ; Niroula, Abhishek A; Chandran, Aneesh A; Rahman, Taufiq T; Vihinen, Mauno M; Monserrat, Lorenzo L

Publication Date: 2021-06-14

Variant appearance in text: TNNT2: R141W; rs74315380

PubMed Link: 34127679

Variant Present in the following documents:

• 41525_2021_204_MOESM1_ESM.pdf

View BVdb publication page

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Isogenic human pluripotent stem cell disease models reveal ABRA deficiency underlies cTnT mutation-induced familial dilated cardiomyopathy.

Protein & Cell

Li, Bin B; Zhan, Yongkun Y; Liang, Qianqian Q; Xu, Chen C; Zhou, Xinyan X; Cai, Huanhuan H; Zheng, Yufan Y; Guo, Yifan Y; Wang, Lei L; Qiu, Wenqing W; Cui, Baiping B; Lu, Chao C; Qian, Ruizhe R; Zhou, Ping P; Chen, Haiyan H; Liu, Yun Y; Chen, Sifeng S; Li, Xiaobo X; Sun, Ning N

Publication Date: 2021-04-22

Variant appearance in text: TNNT2: R141W

PubMed Link: 33884582

Variant Present in the following documents:

• Main text

View BVdb publication page

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Development of a Cardiac Sarcomere Functional Genomics Platform to Enable Scalable Interrogation of Human TNNT2 Variants.

Circulation

Pettinato, Anthony M AM; Ladha, Feria A FA; Mellert, David J DJ; Legere, Nicholas N; Cohn, Rachel R; Romano, Robert R; Thakar, Ketan K; Chen, Yu-Sheng YS; Hinson, J Travis JT

Publication Date: 2020-12-08

Variant appearance in text: TNNT2: R141W

PubMed Link: 33025817

Variant Present in the following documents:

• Main text

View BVdb publication page

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Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.

Circulation

Mazzarotto, Francesco F; Tayal, Upasana U; Buchan, Rachel J RJ; Midwinter, William W; Wilk, Alicja A; Whiffin, Nicola N; Govind, Risha R; Mazaika, Erica E; de Marvao, Antonio A; Dawes, Timothy J W TJW; Felkin, Leanne E LE; Ahmad, Mian M; Theotokis, Pantazis I PI; Edwards, Elizabeth E; Ing, Alexander Y AY; Thomson, Kate L KL; Chan, Laura L H LLH; Sim, David D; Baksi, A John AJ; Pantazis, Antonis A; Roberts, Angharad M AM; Watkins, Hugh H; Funke, Birgit B; O'Regan, Declan P DP; Olivotto, Iacopo I; Barton, Paul J R PJR; Prasad, Sanjay K SK; Cook, Stuart A SA; Ware, James S JS; Walsh, Roddy R

Publication Date: 2020-02-04

Variant appearance in text: TNNT2: 421C>T; R141W

PubMed Link: 31983221

Variant Present in the following documents:

• cir-141-387-s002.xlsx, sheet 6
• cir-141-387-s002.xlsx, sheet 5

View BVdb publication page

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Troponin destabilization impairs sarcomere-cytoskeleton interactions in iPSC-derived cardiomyocytes from dilated cardiomyopathy patients.

Scientific Reports

Dai, Yuanyuan Y; Amenov, Asset A; Ignatyeva, Nadezda N; Koschinski, Andreas A; Xu, Hang H; Soong, Poh Loong PL; Tiburcy, Malte M; Linke, Wolfgang A WA; Zaccolo, Manuela M; Hasenfuss, Gerd G; Zimmermann, Wolfram-Hubertus WH; Ebert, Antje A

Publication Date: 2020-01-14

Variant appearance in text: TNNT2: R141W

PubMed Link: 31937807

Variant Present in the following documents:

• 41598_2019_Article_56597.pdf

View BVdb publication page

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REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports

Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D

Publication Date: 2019-09-04

Variant appearance in text: TNNT2: 421C>T; R141W

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

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: TNNT2: 421C>T; Arg141Trp; rs74315380

PubMed Link: 30681346

Variant Present in the following documents:

• hcg-12-e002460-s002.xlsx, sheet 8

View BVdb publication page

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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: TNNT2: R141W; rs74315380

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Diagnostic Yield of Whole Exome Sequencing in Pediatric Dilated Cardiomyopathy.

Journal Of Cardiovascular Development And Disease

Long, Pamela A PA; Evans, Jared M JM; Olson, Timothy M TM

Publication Date: 2017-08-08

Variant appearance in text: TNNT2: 421C>T; R141W

PubMed Link: 29367541

Variant Present in the following documents:

• Main text

View BVdb publication page

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Multiple Species Comparison of Cardiac Troponin T and Dystrophin: Unravelling the DNA behind Dilated Cardiomyopathy.

Journal Of Cardiovascular Development And Disease

England, Jennifer J; Loughna, Siobhan S; Rutland, Catrin Sian CS

Publication Date: 2017-07-07

Variant appearance in text: TNNT2: R141W

PubMed Link: 29367539

Variant Present in the following documents:

• Main text
• jcdd-04-00008.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: TNNT2: 421C>T; Arg141Trp

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation.

Genome Medicine

Kobayashi, Yuya Y; Yang, Shan S; Nykamp, Keith K; Garcia, John J; Lincoln, Stephen E SE; Topper, Scott E SE

Publication Date: 2017-02-06

Variant appearance in text: TNNT2: 421C>T; Arg141Trp

PubMed Link: 28166811

Variant Present in the following documents:

• Main text

View BVdb publication page

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Gene-Targeted Mice with the Human Troponin T R141W Mutation Develop Dilated Cardiomyopathy with Calcium Desensitization.

Plos One

Ramratnam, Mohun M; Salama, Guy G; Sharma, Ravi K RK; Wang, David Wen Rui DW; Smith, Stephen H SH; Banerjee, Sanjay K SK; Huang, Xueyin N XN; Gifford, Lindsey M LM; Pruce, Michele L ML; Gabris, Bethann E BE; Saba, Samir S; Shroff, Sanjeev G SG; Ahmad, Ferhaan F

Publication Date: 2016

Variant appearance in text: TNNT2: Arg141Trp

PubMed Link: 27936050

Variant Present in the following documents:

• Main text
• pone.0167681.pdf

View BVdb publication page

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Why Is there a Limit to the Changes in Myofilament Ca2+-Sensitivity Associated with Myopathy Causing Mutations?

Frontiers In Physiology

Marston, Steven B SB

Publication Date: 2016

Variant appearance in text: TNNT2: R141W

PubMed Link: 27725803

Variant Present in the following documents:

• Main text
• fphys-07-00415.pdf

View BVdb publication page

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The pathogenicity of genetic variants previously associated with left ventricular non-compaction.

Molecular Genetics & Genomic Medicine

Abbasi, Yeganeh Y; Jabbari, Javad J; Jabbari, Reza R; Yang, Ren-Qiang RQ; Risgaard, Bjarke B; Køber, Lars L; Haunsø, Stig S; Tfelt-Hansen, Jacob J

Publication Date: 2016-03

Variant appearance in text: rs74315380

PubMed Link: 27066506

Variant Present in the following documents:

• MGG3-4-135-s001.xlsx, sheet 1

View BVdb publication page

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TNNT1, TNNT2, and TNNT3: Isoform genes, regulation, and structure-function relationships.

Gene

Wei, Bin B; Jin, J-P JP

Publication Date: 2016-05-10

Variant appearance in text: TNNT2: Arg141Trp

PubMed Link: 26774798

Variant Present in the following documents:

• Main text

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: CMH2: R141W

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Exome Sequencing Identifies Pathogenic and Modifier Mutations in a Child With Sporadic Dilated Cardiomyopathy.

Journal Of The American Heart Association

Long, Pamela A PA; Larsen, Brandon T BT; Evans, Jared M JM; Olson, Timothy M TM

Publication Date: 2015-12-09

Variant appearance in text: TNNT2: R141W

PubMed Link: 26656454

Variant Present in the following documents:

• Main text
• JAH3-4-e002443.pdf
• JAH3-4-e002443-s001.pdf

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: TNNT2: R141W

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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Bayesian models for syndrome- and gene-specific probabilities of novel variant pathogenicity.

Genome Medicine

Ruklisa, Dace D; Ware, James S JS; Walsh, Roddy R; Balding, David J DJ; Cook, Stuart A SA

Publication Date: 2015

Variant appearance in text: TNNT2: 421C>T

PubMed Link: 25649125

Variant Present in the following documents:

• 13073_2014_120_MOESM1_ESM.pdf

View BVdb publication page

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Investigating the role of uncoupling of troponin I phosphorylation from changes in myofibrillar Ca(2+)-sensitivity in the pathogenesis of cardiomyopathy.

Frontiers In Physiology

Messer, Andrew E AE; Marston, Steven B SB

Publication Date: 2014

Variant appearance in text: TNNT2: R141W

PubMed Link: 25202278

Variant Present in the following documents:

• Main text

View BVdb publication page

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Cardiac troponin T (TNNT2) mutations in chinese dilated cardiomyopathy patients.

Biomed Research International

Li, Xiaoping X; Luo, Rong R; Gu, Haiyong H; Deng, Yun Y; Xu, Xiaolei X; Wu, Xiushan X; Hua, Wei W

Publication Date: 2014

Variant appearance in text: TNNT2: R141W

PubMed Link: 25110706

Variant Present in the following documents:

• Main text
• BMRI2014-907360.pdf

View BVdb publication page

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Gene regulation, alternative splicing, and posttranslational modification of troponin subunits in cardiac development and adaptation: a focused review.

Frontiers In Physiology

Sheng, Juan-Juan JJ; Jin, Jian-Ping JP

Publication Date: 2014

Variant appearance in text: TNNT2: R141W

PubMed Link: 24817852

Variant Present in the following documents:

• Main text

View BVdb publication page

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Global DNA methylation and transcriptional analyses of human ESC-derived cardiomyocytes.

Protein & Cell

Gu, Ying Y; Liu, Guang-Hui GH; Plongthongkum, Nongluk N; Benner, Christopher C; Yi, Fei F; Qu, Jing J; Suzuki, Keiichiro K; Yang, Jiping J; Zhang, Weiqi W; Li, Mo M; Montserrat, Nuria N; Crespo, Isaac I; Del Sol, Antonio A; Esteban, Concepcion Rodriguez CR; Zhang, Kun K; Izpisua Belmonte, Juan Carlos JC

Publication Date: 2014-01

Variant appearance in text: TNNT2: R141W

PubMed Link: 24474197

Variant Present in the following documents:

• 13238_2013_Article_16.pdf
• 13238_2013_16_MOESM9_ESM.pdf

View BVdb publication page

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Poor prognosis of rare sarcomeric gene variants in patients with dilated cardiomyopathy.

Clinical And Translational Science

Merlo, Marco M; Sinagra, Gianfranco G; Carniel, Elisa E; Slavov, Dobromir D; Zhu, Xiao X; Barbati, Giulia G; Spezzacatene, Anita A; Ramani, Federica F; Salcedo, Ernesto E; Di Lenarda, Andrea A; Mestroni, Luisa L; Taylor, Matthew R G MR; ,

Publication Date: 2013-12

Variant appearance in text: rs74315380

PubMed Link: 24119082

Variant Present in the following documents:

• Main text

View BVdb publication page

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Heuristic methods for finding pathogenic variants in gene coding sequences.

Journal Of The American Heart Association

Ohanian, Monique M; Otway, Robyn R; Fatkin, Diane D

Publication Date: 2012-10

Variant appearance in text: TNNT2: R141W

PubMed Link: 23316295

Variant Present in the following documents:

• Main text
• jah387-1-e002642.pdf

View BVdb publication page

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Genetic testing for dilated cardiomyopathy in clinical practice.

Journal Of Cardiac Failure

Lakdawala, Neal K NK; Funke, Birgit H BH; Baxter, Samantha S; Cirino, Allison L AL; Roberts, Amy E AE; Judge, Daniel P DP; Johnson, Nicole N; Mendelsohn, Nancy J NJ; Morel, Chantal C; Care, Melanie M; Chung, Wendy K WK; Jones, Carolyn C; Psychogios, Apostolos A; Duffy, Elizabeth E; Rehm, Heidi L HL; White, Emily E; Seidman, J G JG; Seidman, Christine E CE; Ho, Carolyn Y CY

Publication Date: 2012-04

Variant appearance in text: TNNT2: R141W

PubMed Link: 22464770

Variant Present in the following documents:

• Main text

View BVdb publication page

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Rare variant mutations identified in pediatric patients with dilated cardiomyopathy.

Progress In Pediatric Cardiology

Rampersaud, Evadnie E; Siegfried, Jill D JD; Norton, Nadine N; Li, Duanxiang D; Martin, Eden E; Hershberger, Ray E RE

Publication Date: 2011-01-01

Variant appearance in text: TNNT2: Arg141Trp

PubMed Link: 21483645

Variant Present in the following documents:

• Main text

View BVdb publication page

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Clinical and functional characterization of TNNT2 mutations identified in patients with dilated cardiomyopathy.

Circulation. Cardiovascular Genetics

Hershberger, Ray E RE; Pinto, Jose Renato JR; Parks, Sharie B SB; Kushner, Jessica D JD; Li, Duanxiang D; Ludwigsen, Susan S; Cowan, Jason J; Morales, Ana A; Parvatiyar, Michelle S MS; Potter, James D JD

Publication Date: 2009-08

Variant appearance in text: TNNT2: R141W

PubMed Link: 20031601

Variant Present in the following documents:

• Main text

View BVdb publication page

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The role of cardiac troponin T quantity and function in cardiac development and dilated cardiomyopathy.

Plos One

Ahmad, Ferhaan F; Banerjee, Sanjay K SK; Lage, Michele L ML; Huang, Xueyin N XN; Smith, Stephen H SH; Saba, Samir S; Rager, Jennifer J; Conner, David A DA; Janczewski, Andrzej M AM; Tobita, Kimimasa K; Tinney, Joseph P JP; Moskowitz, Ivan P IP; Perez-Atayde, Antonio R AR; Keller, Bradley B BB; Mathier, Michael A MA; Shroff, Sanjeev G SG; Seidman, Christine E CE; Seidman, J G JG

Publication Date: 2008-07-09

Variant appearance in text: TNNT2: R141W

PubMed Link: 18612386

Variant Present in the following documents:

• Main text
• pone.0002642.pdf

View BVdb publication page

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