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Paul J.R. Barton

National Heart and Lung Institute

71H指数
316论文数
1.7W被引数
收录论文 84
发表时间
Pangenomes aid accurate detection of large insertions and deletions from targeted sequencing: the case of cardiomyopathies泛基因组有助于从靶向测序中准确检测大片段插入和缺失:心肌病案例
err2026-08-26
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errOAAI
errFrancesco Mazzarotto; Özem Kalay; Elif Arslan; Valeria Cinquina; Rachel J. Buchan; Valeria Bertini; Esmé Cavanagh; Deniz Turgut; Mona Allouba; Alaa Afify; Sarah Halawa; Pantazis Theotokis; Gungor Budak; Francesca Girolami; Alessia Azzu; Petra Peldova; Nik Matthews; Dudley J. Pennell; Jiri Bonaventura; Iacopo Olivotto; Elisabetta Pelo; Marina Colombi; Milan Macek; Paul J. R. Barton; Yasmine Aguib; Magdi Yacoub; Marco Ritelli; Massimo Gennarelli; H. Serhat Tetikol; Roddy Walsh; James S. Ware; Amit Jain
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Sex Differences in the Genetic Causes of Dilated Cardiomyopathy扩张型心肌病的遗传病因中的性别差异
err2025-07-28
err0
PREAI
errMassimo Mangino; Kathryn A. McGurk; Pantazis Theotokis; Rachel J. Buchan; Clare R. Stockwell; Prisca K. Thami; Emma Jennings; Elaine Wan; Catherine Enright; Ahmed Adlan; Tamim Akbari; John Baksi; Paul J.R. Barton; Colin Berry; Gerry Carr-White; Amedeo Chiribiri; Rob Cooper; Abhishek Dattani; Andrew S. Flett; Roy S. Gardner; John P. Greenwood; Brian P. Halliday; Daniel J. Hammersley; David C. Hutchings; Masliza Mahmod; Benjamin Marrow; Gerry P. McCann; Manish Motwani; Stefan Neubauer; Declan P. O’ Regan; Stephen P. Page; Antonis Pantazis; Charles Peebles; Betty Raman; Peter P. Swoboda; Amanda Varnava; Luigi Venetucci; Hugh Watkins; David Wright; Sanjay K. Prasad; Stuart A. Cook; James S. Ware; Upasana (Paz) Tayal
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Biallelic Loss of Function Variants in Myocardial Zonula Adherens Protein Gene (MYZAP) Cause a Severe Recessive Form of Dilated Cardiomyopathy
err2024-03-01
err2
errOAAI
errOchoa, Juan Pablo; Lalaguna, Laura; Mirelis, Jesus G.; Dominguez, Fernando; Gonzalez-Lopez, Esther; Salas, Clara; Roustan, Gaston; Mcgurk, Kathryn A.; Zheng, Sean L.; Barton, Paul J. R.; Ware, James S.; Gomez-Gaviro, Maria Victoria; Lara-Pezzi, Enrique; Garcia-Pavia, Pablo
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The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings
err2023-09-01
err18
errOAAI
errMcgurk, Kathryn A.; Zhang, Xiaolei; Theotokis, Pantazis; Thomson, Kate; Harper, Andrew; Buchan, Rachel J.; Mazaika, Erica; Ormondroyd, Elizabeth; Wright, William T.; Macaya, Daniela; Pua, Chee Jian; Funke, Birgit; Macarthur, Daniel G.; Prasad, Sanjay K.; Cook, Stuart A.; Allouba, Mona; Aguib, Yasmine; Yacoub, Magdi H.; O'Regan, Declan P.; Barton, Paul J. R.; Watkins, Hugh; Bottolo, Leonardo; Ware, James S.
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Ethnicity, consanguinity, and genetic architecture of hypertrophic cardiomyopathy肥厚性心肌病的种族,血缘和遗传结构
err2023-07-11
err14
errOAAI
errAllouba, Mona; Walsh, Roddy; Afify, Alaa; Hosny, Mohammed; Halawa, Sarah; Galal, Aya; Fathy, Mariam; Theotokis, Pantazis, I; Boraey, Ahmed; Ellithy, Amany; Buchan, Rachel; Govind, Risha; Whiffin, Nicola; Anwer, Shehab; ElGuindy, Ahmed; Ware, James S.; Barton, Paul J. R.; Yacoub, Magdi; Aguib, Yasmine
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Genetic Architecture of Acute Myocarditis and the Overlap With Inherited Cardiomyopathy
err2022-10-11
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errOAAI
errLota, Amrit S.; Hazebroek, Mark R.; Theotokis, Pantazis; Wassall, Rebecca; Salmi, Sara; Halliday, Brian P.; Tayal, Upasana; Verdonschot, Job; Meena, Devendra; Owen, Ruth; de Marvao, Antonio; Iacob, Alma; Yazdani, Momina; Hammersley, Daniel J.; Jones, Richard E.; Wage, Riccardo; Buchan, Rachel; Vivian, Fredrik; Hafouda, Yakeen; Noseda, Michela; Gregson, John; Mittal, Tarun; Wong, Joyce; Robertus, Jan Lukas; Baksi, A. John; Vassiliou, Vassilios; Tzoulaki, Ioanna; Pantazis, Antonis; Cleland, John G. F.; Barton, Paul J. R.; Cook, Stuart A.; Pennell, Dudley J.; Garcia-Pavia, Pablo; Cooper, Leslie T., Jr.; Heymans, Stephane; Ware, James S.; Prasad, Sanjay K.
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Contribution of Noncanonical Splice Variants to TTN Truncating Variant Cardiomyopathy
err2021-10-01
err16
errOAAI
errPatel, Parth N.; Ito, Kaoru; Willcox, Jon A. L.; Haghighi, Alireza; Jang, Min Young; Gorham, Joshua M.; DePalma, Steven R.; Lam, Lien; McDonough, Barbara; Johnson, Renee; Lakdawala, Neal K.; Roberts, Amy; Barton, Paul J. R.; Cook, Stuart A.; Fatkin, Diane; Seidman, Christine E.; Seidman, J. G.
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New Variant With a Previously Unrecognized Mechanism of Pathogenicity in Hypertrophic Cardiomyopathy
err2021-08-31
err2
errOAAI
errAguib, Yasmine; Allouba, Mona; Walsh, Roddy; Ibrahim, Ayman M.; Halawa, Sarah; Afify, Alaa; Hosny, Mohammed; Theotokis, Pantazis I.; Galal, Aya; Elshorbagy, Sara; Roshdy, Mohamed; Kassem, Heba S.; Ellithy, Amany; Buchan, Rachel; Whiffin, Nicola; Anwer, Shehab; Cook, Stuart A.; Moustafa, Ahmed; ElGuindy, Ahmed; Ware, James S.; Barton, Paul J. R.; Yacoub, Magdi
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Moderate excess alcohol consumption and adverse cardiac remodelling in dilated cardiomyopathy
errHEART
IF4.4
err2021-08-11
err4
errOAAI
errTayal, Upasana; Gregson, John; Buchan, Rachel; Whiffin, Nicola; Halliday, Brian P.; Lota, Amrit; Roberts, Angharad M.; Baksi, A. John; Voges, Inga; Jarman, Julian W. E.; Baruah, Resham; Frenneaux, Michael; Cleland, John G. F.; Barton, Paul; Pennell, Dudley J.; Ware, James S.; Cook, Stuart A.; Prasad, Sanjay K.
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Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanismsMEF2C上游的非编码区变异通过三种不同的功能丧失机制导致严重的发育障碍
err2021-06-01
err49
errOAAI
errWright, Caroline F.; Quaife, Nicholas M.; Ramos-Hernandez, Laura; Danecek, Petr; Ferla, Matteo P.; Samocha, Kaitlin E.; Kaplanis, Joanna; Gardner, Eugene J.; Eberhardt, Ruth Y.; Chao, Katherine R.; Karczewski, Konrad J.; Morales, Joannella; Gallone, Giuseppe; Balasubramanian, Meena; Banka, Siddharth; Gompertz, Lianne; Kerr, Bronwyn; Kirby, Amelia; Lynch, Sally A.; Morton, Jenny E., V; Pinz, Hailey; Sansbury, Francis H.; Stewart, Helen; Zuccarelli, Britton D.; Cook, Stuart A.; Taylor, Jenny C.; Juusola, Jane; Retterer, Kyle; Firth, Helen, V; Hurles, Matthew E.; Lara-Pezzi, Enrique; Barton, Paul J. R.; Whiffin, Nicola
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Systematic large-scale assessment of the genetic architecture of left ventricular noncompaction reveals diverse etiologies
err2021-05-01
err55
errOAAI
errMazzarotto, Francesco; Hawley, Megan H.; Beltrami, Matteo; Beekman, Leander; de Marvao, Antonio; McGurk, Kathryn A.; Statton, Ben; Boschi, Beatrice; Girolami, Francesca; Roberts, Angharad M.; Lodder, Elisabeth M.; Allouba, Mona; Romeih, Soha; Aguib, Yasmine; Baksi, A. John; Pantazis, Antonis; Prasad, Sanjay K.; Cerbai, Elisabetta; Yacoub, Magdi H.; O'Regan, Declan P.; Cook, Stuart A.; Ware, James S.; Funke, Birgit; Olivotto, Iacopo; Bezzina, Connie R.; Barton, Paul J. R.; Walsh, Roddy
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Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect
err2021-01-25
err156
errOAAI
errTadros, Rafik; Francis, Catherine; Xu, Xiao; Vermeer, Alexa M. C.; Harper, Andrew R.; Huurman, Roy; Bisabu, Ken Kelu; Walsh, Roddy; Hoorntje, Edgar T.; te Rijdt, Wouter P.; Buchan, Rachel J.; van Velzen, Hannah G.; van Slegtenhorst, Marjon A.; Vermeulen, Jentien M.; Offerhaus, Joost Allard; Bai, Wenjia; de Marvao, Antonio; Lahrouchi, Najim; Beekman, Leander; Karper, Jacco C.; Veldink, Jan H.; Kayvanpour, Elham; Pantazis, Antonis; Baksi, A. John; Whiffin, Nicola; Mazzarotto, Francesco; Sloane, Geraldine; Suzuki, Hideaki; Schneider-Luftman, Deborah; Elliott, Paul; Richard, Pascale; Ader, Flavie; Villard, Eric; Lichtner, Peter; Meitinger, Thomas; Tanck, Michael W. T.; van Tintelen, J. Peter; Thain, Andrew; McCarty, David; Hegele, Robert A.; Roberts, Jason D.; Amyot, Julie; Dube, Marie-Pierre; Cadrin-Tourigny, Julia; Giraldeau, Genevieve; L'Allier, Philippe L.; Garceau, Patrick; Tardif, Jean-Claude; Boekholdt, S. Matthijs; Lumbers, R. Thomas; Asselbergs, Folkert W.; Barton, Paul J. R.; Cook, Stuart A.; Prasad, Sanjay K.; O'Regan, Declan P.; van der Velden, Jolanda; Verweij, Karin J. H.; Talajic, Mario; Lettre, Guillaume; Pinto, Yigal M.; Meder, Benjamin; Charron, Philippe; de Boer, Rudolf A.; Christiaans, Imke; Michels, Michelle; Wilde, Arthur A. M.; Watkins, Hugh; Matthews, Paul M.; Ware, James S.; Bezzina, Connie R.
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Disease-specific variant pathogenicity prediction significantly improves variant interpretation in inherited cardiac conditions
err2021-01-01
err34
errOAAI
errZhang, Xiaolei; Walsh, Roddy; Whiffin, Nicola; Buchan, Rachel; Midwinter, William; Wilk, Alicja; Govind, Risha; Li, Nicholas; Ahmad, Mian; Mazzarotto, Francesco; Roberts, Angharad; Theotokis, Pantazis I.; Mazaika, Erica; Allouba, Mona; de Marvao, Antonio; Pua, Chee Jian; Day, Sharlene M.; Ashley, Euan; Colan, Steven D.; Michels, Michelle; Pereira, Alexandre C.; Jacoby, Daniel; Ho, Carolyn Y.; Olivotto, Iacopo; Gunnarsson, Gunnar T.; Jefferies, John L.; Semsarian, Chris; Ingles, Jodie; O'Regan, Declan P.; Aguib, Yasmine; Yacoub, Magdi H.; Cook, Stuart A.; Barton, Paul J. R.; Bottolo, Leonardo; Ware, James S.
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Genetic Studies of Hypertrophic Cardiomyopathy in Singaporeans Identify Variants in TNNI3 and TNNT2 That Are Common in Chinese Patients新加坡人肥厚性心肌病的遗传研究确定了中国患者中常见的TNNI3和TNNT2变异
err2020-10-01
err22
errOAAI
errPua, Chee Jian; Tham, Nevin; Chin, Calvin W. L.; Walsh, Roddy; Khor, Chiea Chuen; Toepfer, Christopher N.; Repetti, Giuliana G.; Garfinkel, Amanda C.; Ewoldt, Jourdan F.; Cloonan, Paige; Chen, Christopher S.; Lim, Shi Qi; Cai, Jiashen; Loo, Li Yang; Kong, Siew Ching; Chiang, Charleston W. K.; Whiffin, Nicola; de Marvao, Antonio; Lio, Pei Min; Hii, An An; Yang, Cheng Xi; Le, Thu Thao; Bylstra, Yasmin; Lim, Weng Khong; Teo, Jing Xian; Padilha, Kallyandra; Silva, Gabriela V.; Pan, Bangfen; Govind, Risha; Buchan, Rachel J.; Barton, Paul J. R.; Tan, Patrick; Foo, Roger; Yip, James W. L.; Wong, Raymond C. C.; Chan, Wan Xian; Pereira, Alexandre C.; Tang, Hak Chiaw; Jamuar, Saumya Shekhar; Ware, James S.; Seidman, Jonathan G.; Seidman, Christine E.; Cook, Stuart A.
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Contemporary Insights Into the Genetics of Hypertrophic Cardiomyopathy: Toward a New Era in Clinical Testing?
err2020-04-21
err46
errOAAI
errMazzarotto, Francesco; Olivotto, Iacopo; Boschi, Beatrice; Girolami, Francesca; Poggesi, Corrado; Barton, Paul J. R.; Walsh, Roddy
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Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy
err2020-02-04
err174
errOAAI
errMazzarotto, Francesco; Tayal, Upasana; Buchan, Rachel J.; Midwinter, William; Wilk, Alicja; Whiffin, Nicola; Govind, Risha; Mazaika, Erica; de Marvao, Antonio; Dawes, Timothy J. W.; Felkin, Leanne E.; Ahmad, Mian; Theotokis, Pantazis, I; Edwards, Elizabeth; Ing, Alexander Y.; Thomson, Kate L.; Chan, Laura L. H.; Sim, David; Baksi, A. John; Pantazis, Antonis; Roberts, Angharad M.; Watkins, Hugh; Funke, Birgit; O'Regan, Declan P.; Olivotto, Iacopo; Barton, Paul J. R.; Prasad, Sanjay K.; Cook, Stuart A.; Ware, James S.; Walsh, Roddy
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Widespread Translational Control of Fibrosis in the Human Heart by RNA-Binding Proteins
err2019-09-10
err97
errOAAI
errChothani, Sonia; Schafer, Sebastian; Adami, Eleonora; Viswanathan, Sivakumar; Widjaja, Anissa A.; Langley, Sarah R.; Tan, Jessie; Wang, Mao; Quaife, Nicholas M.; Pua, Chee Jian; D'Agostino, Giuseppe; Shekeran, Shamini Guna; George, Benjamin L.; Lim, Stella; Cao, Elaine Yiqun; van Heesch, Sebastiaan; Witte, Franziska; Felkin, Leanne E.; Christodoulou, Eleni G.; Dong, Jinrui; Blachut, Susanne; Patone, Giannino; Barton, Paul J. R.; Hubner, Norbert; Cook, Stuart A.; Rackham, Owen J. L.
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WWP2 regulates pathological cardiac fibrosis by modulating SMAD2 signaling (vol 10, 3616, 2019)
err2019-09-09
err6
errOAAI
errChen, Huimei; Moreno-Moral, Aida; Pesce, Francesco; Devapragash, Nithya; Mancini, Massimiliano; Heng, Ee Ling; Rotival, Maxime; Srivastava, Prashant K.; Harmston, Nathan; Shkura, Kirill; Rackham, Owen J. L.; Yu, Wei-Ping; Sun, Xi-Ming; Tee, Nicole Gui Zhen; Tan, Elisabeth Li Sa; Barton, Paul J. R.; Felkin, Leanne E.; Lara-Pezzi, Enrique; Angelini, Gianni; Beltrami, Cristina; Pravenec, Michal; Schafer, Sebastian; Bottolo, Leonardo; Hubner, Norbert; Emanueli, Costanza; Cook, Stuart A.; Petretto, Enrico
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WWP2 regulates pathological cardiac fibrosis by modulating SMAD2 signalingWWP2通过调节SMAD2信号调节病理性心脏纤维化
err2019-08-09
err50
errOAAI
errChen, Huimei; Moreno-Moral, Aida; Pesce, Francesco; Devapragash, Nithya; Mancini, Massimilano; Heng, Ee Ling; Rotival, Maxime; Srivastava, Prashant K.; Harmston, Nathan; Shkura, Kirill; Rackham, Owen J. L.; Yu, Wei-Ping; Sun, Xi-Ming; Tee, Nicole Gui Zhen; Tan, Elisabeth Li Sa; Barton, Paul J. R.; Felkin, Leanne E.; Lara-Pezzi, Enrique; Angelini, Gianni; Beltrami, Cristina; Pravenec, Michal; Schafer, Sebastian; Bottolo, Leonardo; Hubner, Norbert; Emanueli, Costanza; Cook, Stuart A.; Petretto, Enrico
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