Pesquisa | BVS Violência e Saúde

1.

The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings.

McGurk, 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.

Am J Hum Genet ; 110(9): 1482-1495, 2023 09 07.

Artigo em Inglês | MEDLINE | ID: mdl-37652022

2.

A Human Hereditary Cardiomyopathy Shares a Genetic Substrate With Bicuspid Aortic Valve.

Siguero-Álvarez, Marcos; Salguero-Jiménez, Alejandro; Grego-Bessa, Joaquim; de la Barrera, Jorge; MacGrogan, Donal; Prados, Belén; Sánchez-Sáez, Fernando; Piñeiro-Sabarís, Rebeca; Felipe-Medina, Natalia; Torroja, Carlos; Gómez, Manuel José; Sabater-Molina, María; Escribá, Rubén; Richaud-Patin, Ivonne; Iglesias-García, Olalla; Sbroggio, Mauro; Callejas, Sergio; O'Regan, Declan P; McGurk, Kathryn A; Dopazo, Ana; Giovinazzo, Giovanna; Ibañez, Borja; Monserrat, Lorenzo; Pérez-Pomares, José María; Sánchez-Cabo, Fátima; Pendas, Alberto M; Raya, Angel; Gimeno-Blanes, Juan R; de la Pompa, José Luis.

Circulation ; 147(1): 47-65, 2023 01 03.

Artigo em Inglês | MEDLINE | ID: mdl-36325906

3.

Heritability and family-based GWAS analyses of the N-acyl ethanolamine and ceramide plasma lipidome.

McGurk, Kathryn A; Williams, Simon G; Guo, Hui; Watkins, Hugh; Farrall, Martin; Cordell, Heather J; Nicolaou, Anna; Keavney, Bernard D.

Hum Mol Genet ; 30(6): 500-513, 2021 04 30.

Artigo em Inglês | MEDLINE | ID: mdl-33437986

4.

Genetic analyses of circulating PUFA-derived mediators identifies heritable dihydroxyeicosatrienoic acid species.

McGurk, Kathryn A; Farrell, Laura; Kendall, Alexandra C; Keavney, Bernard D; Nicolaou, Anna.

Prostaglandins Other Lipid Mediat ; 160: 106638, 2022 06.

Artigo em Inglês | MEDLINE | ID: mdl-35472599

5.

The use of missing values in proteomic data-independent acquisition mass spectrometry to enable disease activity discrimination.

McGurk, Kathryn A; Dagliati, Arianna; Chiasserini, Davide; Lee, Dave; Plant, Darren; Baricevic-Jones, Ivona; Kelsall, Janet; Eineman, Rachael; Reed, Rachel; Geary, Bethany; Unwin, Richard D; Nicolaou, Anna; Keavney, Bernard D; Barton, Anne; Whetton, Anthony D; Geifman, Nophar.

Bioinformatics ; 36(7): 2217-2223, 2020 04 01.

Artigo em Inglês | MEDLINE | ID: mdl-31790148

6.

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

Mazzarotto, 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.

Genet Med ; 23(5): 856-864, 2021 05.

Artigo em Inglês | MEDLINE | ID: mdl-33500567

7.

Pharmacogenetic Influences Over Mavacamten Pharmacokinetics: Considerations for the Treatment of Individuals With Hypertrophic Cardiomyopathy.

McGurk, Kathryn A; Bilgehan, Nagme; Ware, James S.

Circulation ; 149(23): 1786-1788, 2024 Jun 04.

Artigo em Inglês | MEDLINE | ID: mdl-38829931

8.

Correspondence on "ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG)" by Miller et al.

McGurk, Kathryn A; Zheng, Sean L; Henry, Albert; Josephs, Katherine; Edwards, Matthew; de Marvao, Antonio; Whiffin, Nicola; Roberts, Angharad; Lumbers, Thomas R; O'Regan, Declan P; Ware, James S.

Genet Med ; 24(3): 744-746, 2022 03.

Artigo em Inglês | MEDLINE | ID: mdl-34906520

9.

The Open Science of Atrial Fibrillation.

Keavney, Bernard D; McGurk, Kathryn A.

Circ Res ; 126(2): 210-211, 2020 01 17.

Artigo em Inglês | MEDLINE | ID: mdl-31944917

10.

The Genetic Factors Influencing Cardiomyopathies and Heart Failure across the Allele Frequency Spectrum.

Mukhopadhyay, Srinjay; Dixit, Prithvi; Khanom, Najiyah; Sanghera, Gianluca; McGurk, Kathryn A.

J Cardiovasc Transl Res ; 2024 May 21.

Artigo em Inglês | MEDLINE | ID: mdl-38771459

11.

Assessing the association between genetic and phenotypic features of dilated cardiomyopathy and outcome in patients with coronary artery disease.

Jones, Richard E; Hammersley, Daniel J; Zheng, Sean; McGurk, Kathryn A; de Marvao, Antonio; Theotokis, Pantazis I; Owen, Ruth; Tayal, Upasana; Rea, Gillian; Hatipoglu, Suzan; Buchan, Rachel J; Mach, Lukas; Curran, Lara; Lota, Amrit S; Simard, François; Reddy, Rohin K; Talukder, Suprateeka; Yoon, Won Young; Vazir, Ali; Pennell, Dudley J; O'Regan, Declan P; Baksi, A John; Halliday, Brian P; Ware, James S; Prasad, Sanjay K.

Eur J Heart Fail ; 26(1): 46-55, 2024 Jan.

Artigo em Inglês | MEDLINE | ID: mdl-37702310

12.

Identification of an increased lifetime risk of major adverse cardiovascular events in UK Biobank participants with scoliosis.

Quintero Santofimio, Valentina; Clement, Adam; O'Regan, Declan P; Ware, James S; McGurk, Kathryn A.

Open Heart ; 10(1)2023 05.

Artigo em Inglês | MEDLINE | ID: mdl-37137668

13.

Environmental and genetic predictors of human cardiovascular ageing.

Shah, Mit; de A Inácio, Marco H; Lu, Chang; Schiratti, Pierre-Raphaël; Zheng, Sean L; Clement, Adam; de Marvao, Antonio; Bai, Wenjia; King, Andrew P; Ware, James S; Wilkins, Martin R; Mielke, Johanna; Elci, Eren; Kryukov, Ivan; McGurk, Kathryn A; Bender, Christian; Freitag, Daniel F; O'Regan, Declan P.

Nat Commun ; 14(1): 4941, 2023 08 21.

Artigo em Inglês | MEDLINE | ID: mdl-37604819

14.

Genotype-Phenotype Taxonomy of Hypertrophic Cardiomyopathy.

Curran, Lara; de Marvao, Antonio; Inglese, Paolo; McGurk, Kathryn A; Schiratti, Pierre-Raphaël; Clement, Adam; Zheng, Sean L; Li, Surui; Pua, Chee Jian; Shah, Mit; Jafari, Mina; Theotokis, Pantazis; Buchan, Rachel J; Jurgens, Sean J; Raphael, Claire E; Baksi, Arun John; Pantazis, Antonis; Halliday, Brian P; Pennell, Dudley J; Bai, Wenjia; Chin, Calvin W L; Tadros, Rafik; Bezzina, Connie R; Watkins, Hugh; Cook, Stuart A; Prasad, Sanjay K; Ware, James S; O'Regan, Declan P.

Circ Genom Precis Med ; 16(6): e004200, 2023 Dec.

Artigo em Inglês | MEDLINE | ID: mdl-38014537

15.

Large scale genome-wide association analyses identify novel genetic loci and mechanisms in hypertrophic cardiomyopathy.

Tadros, Rafik; Zheng, Sean L; Grace, Christopher; Jordà, Paloma; Francis, Catherine; Jurgens, Sean J; Thomson, Kate L; Harper, Andrew R; Ormondroyd, Elizabeth; West, Dominique M; Xu, Xiao; Theotokis, Pantazis I; Buchan, Rachel J; McGurk, Kathryn A; Mazzarotto, Francesco; Boschi, Beatrice; Pelo, Elisabetta; Lee, Michael; Noseda, Michela; Varnava, Amanda; Vermeer, Alexa Mc; Walsh, Roddy; Amin, Ahmad S; van Slegtenhorst, Marjon A; Roslin, Nicole; Strug, Lisa J; Salvi, Erika; Lanzani, Chiara; de Marvao, Antonio; Roberts, Jason D; Tremblay-Gravel, Maxime; Giraldeau, Genevieve; Cadrin-Tourigny, Julia; L'Allier, Philippe L; Garceau, Patrick; Talajic, Mario; Pinto, Yigal M; Rakowski, Harry; Pantazis, Antonis; Baksi, John; Halliday, Brian P; Prasad, Sanjay K; Barton, Paul Jr; O'Regan, Declan P; Cook, Stuart A; de Boer, Rudolf A; Christiaans, Imke; Michels, Michelle; Kramer, Christopher M; Ho, Carolyn Y.

medRxiv ; 2023 Feb 06.

Artigo em Inglês | MEDLINE | ID: mdl-36778260

16.

Effect of taurine administration on symptoms, severity, or clinical outcome of dilated cardiomyopathy and heart failure in humans: a systematic review.

McGurk, Kathryn A; Kasapi, Melpomeni; Ware, James S.

Wellcome Open Res ; 7: 9, 2022.

Artigo em Inglês | MEDLINE | ID: mdl-35855073

17.

Genetic and environmental determinants of diastolic heart function.

Thanaj, Marjola; Mielke, Johanna; McGurk, Kathryn A; Bai, Wenjia; Savioli, Nicolò; de Marvao, Antonio; Meyer, Hannah V; Zeng, Lingyao; Sohler, Florian; Lumbers, R Thomas; Wilkins, Martin R; Ware, James S; Bender, Christian; Rueckert, Daniel; MacNamara, Aidan; Freitag, Daniel F; O'Regan, Declan P.

Nat Cardiovasc Res ; 1(4): 361-371, 2022 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-35479509

18.

Circulating ceramides as biomarkers of cardiovascular disease: Evidence from phenotypic and genomic studies.

McGurk, Kathryn A; Keavney, Bernard D; Nicolaou, Anna.

Atherosclerosis ; 327: 18-30, 2021 06.

Artigo em Inglês | MEDLINE | ID: mdl-34004484

19.

Phenotypic Expression and Outcomes in Individuals With Rare Genetic Variants of Hypertrophic Cardiomyopathy.

de Marvao, Antonio; McGurk, Kathryn A; Zheng, Sean L; Thanaj, Marjola; Bai, Wenjia; Duan, Jinming; Biffi, Carlo; Mazzarotto, Francesco; Statton, Ben; Dawes, Timothy J W; Savioli, Nicolò; Halliday, Brian P; Xu, Xiao; Buchan, Rachel J; Baksi, A John; Quinlan, Marina; Tokarczuk, Pawel; Tayal, Upasana; Francis, Catherine; Whiffin, Nicola; Theotokis, Pantazis I; Zhang, Xiaolei; Jang, Mikyung; Berry, Alaine; Pantazis, Antonis; Barton, Paul J R; Rueckert, Daniel; Prasad, Sanjay K; Walsh, Roddy; Ho, Carolyn Y; Cook, Stuart A; Ware, James S; O'Regan, Declan P.

J Am Coll Cardiol ; 78(11): 1097-1110, 2021 09 14.

Artigo em Inglês | MEDLINE | ID: mdl-34503678

20.

Heritability of haemodynamics in the ascending aorta.

McGurk, Kathryn A; Owen, Benjamin; Watson, William D; Nethononda, Richard M; Cordell, Heather J; Farrall, Martin; Rider, Oliver J; Watkins, Hugh; Revell, Alistair; Keavney, Bernard D.

Sci Rep ; 10(1): 14356, 2020 09 01.

Artigo em Inglês | MEDLINE | ID: mdl-32873833

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