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Cardiomyopathies in 100,000 genomes project: interval evaluation improves diagnostic yield and informs strategies for ongoing gene discovery.
Published in:
Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01390-9
By:
- Josephs, Katherine S.;
- Seaby, Eleanor G.;
- May, Philippa;
- Theotokis, Pantazis;
- Yu, Jing;
- Andreou, Avgi;
- Sinclair, Hannah;
- Morris-Rosendahl, Deborah;
- Thomas, Ellen R. A.;
- Ennis, Sarah;
- Roberts, Angharad M.;
- Ware, James S.
Publication type:
Article
Diagnostic yield of hypertrophic cardiomyopathy in first-degree relatives of decedents with idiopathic left ventricular hypertrophy.
Published in:
2020
By:
- Finocchiaro, Gherardo;
- Dhutia, Harshil;
- Gray, Belinda;
- Ensam, Bode;
- Papatheodorou, Stathis;
- Miles, Chris;
- Malhotra, Aneil;
- Fanton, Zeph;
- Bulleros, Paulo;
- Homfray, Tessa;
- Witney, Adam A;
- Bunce, Nicholas;
- Anderson, Lisa J;
- Ware, James S;
- Sharma, Rajan;
- Tome, Maite;
- Behr, Elijah R;
- Sheppard, Mary N;
- Papadakis, Michael;
- Sharma, Sanjay
Publication type:
journal article
Genome-wide associations of aortic distensibility suggest causality for aortic aneurysms and brain white matter hyperintensities.
Published in:
Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-32219-x
By:
- Francis, Catherine M.;
- Futschik, Matthias E.;
- Huang, Jian;
- Bai, Wenjia;
- Sargurupremraj, Muralidharan;
- Teumer, Alexander;
- Breteler, Monique M. B.;
- Petretto, Enrico;
- Ho, Amanda S. R.;
- Amouyel, Philippe;
- Engelter, Stefan T.;
- Bülow, Robin;
- Völker, Uwe;
- Völzke, Henry;
- Dörr, Marcus;
- Imtiaz, Mohammed-Aslam;
- Aziz, N. Ahmad;
- Lohner, Valerie;
- Ware, James S.;
- Debette, Stephanie
Publication type:
Article
Next-generation sequencing using microfluidic PCR enrichment for molecular autopsy.
Published in:
2019
By:
- Raju, Hariharan;
- Ware, James S.;
- Skinner, Jonathan R.;
- Hedley, Paula L.;
- Arno, Gavin;
- Love, Donald R.;
- van der Werf, Christian;
- Tfelt-Hansen, Jacob;
- Winkel, Bo Gregers;
- Cohen, Marta C.;
- Li, Xinzhong;
- John, Shibu;
- Sharma, Sanjay;
- Jeffery, Steve;
- Wilde, Arthur A. M.;
- Christiansen, Michael;
- Sheppard, Mary N.;
- Behr, Elijah R.
Publication type:
journal article
NECTAR: a database of codon-centric missense variant annotations.
Published in:
Nucleic Acids Research, 2014, v. 42, n. D1, p. D1013, doi. 10.1093/nar/gkt1245
By:
- Gong, Sungsam;
- Ware, James S.;
- Walsh, Roddy;
- Cook, Stuart A.
Publication type:
Article
Republished review: Next generation sequencing for clinical diagnostics and personalised medicine: implications for the next generation cardiologist.
Published in:
2012
By:
- Ware, James S.;
- Roberts, Angharad M.;
- Cook, Stuart A.
Publication type:
journal article
LAVASET: Latent Variable Stochastic Ensemble of Trees. An ensemble method for correlated datasets with spatial, spectral, and temporal dependencies.
Published in:
Bioinformatics, 2024, v. 40, n. 3, p. 1, doi. 10.1093/bioinformatics/btae101
By:
- Kasapi, Melpomeni;
- Xu, Kexin;
- Ebbels, Timothy M D;
- O'Regan, Declan P;
- Ware, James S;
- Posma, Joram M
Publication type:
Article
Artificial intelligence-enhanced electrocardiography derived body mass index as a predictor of future cardiometabolic disease.
Published in:
NPJ Digital Medicine, 2024, v. 7, n. 1, p. 1, doi. 10.1038/s41746-024-01170-0
By:
- Pastika, Libor;
- Sau, Arunashis;
- Patlatzoglou, Konstantinos;
- Sieliwonczyk, Ewa;
- Ribeiro, Antônio H.;
- McGurk, Kathryn A.;
- Khan, Sadia;
- Mandic, Danilo;
- Scott, William R.;
- Ware, James S.;
- Peters, Nicholas S.;
- Ribeiro, Antonio Luiz P.;
- Kramer, Daniel B.;
- Waks, Jonathan W.;
- Ng, Fu Siong
Publication type:
Article
Environmental and genetic predictors of human cardiovascular ageing.
Published in:
Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-40566-6
By:
- 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.
Publication type:
Article
Towards Clinical Molecular Diagnosis of Inherited Cardiac Conditions: A Comparison of Bench-Top Genome DNA Sequencers.
Published in:
PLoS ONE, 2013, v. 8, n. 7, p. 1, doi. 10.1371/journal.pone.0067744
By:
- Li, Xinzhong;
- Buckton, Andrew J.;
- Wilkinson, Samuel L.;
- John, Shibu;
- Walsh, Roddy;
- Novotny, Tomas;
- Valaskova, Iveta;
- Gupta, Manu;
- Game, Laurence;
- Barton, Paul J R.;
- Cook, Stuart A.;
- Ware, James S.
Publication type:
Article
Ethnicity, consanguinity, and genetic architecture of hypertrophic cardiomyopathy.
Published in:
European Heart Journal, 2023, v. 44, n. 48, p. 5146, doi. 10.1093/eurheartj/ehad372
By:
- Allouba, 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
Publication type:
Article
Evaluation of gene validity for CPVT and short QT syndrome in sudden arrhythmic death.
Published in:
European Heart Journal, 2022, v. 43, n. 15, p. 1500, doi. 10.1093/eurheartj/ehab687
By:
- Walsh, Roddy;
- Adler, Arnon;
- Amin, Ahmad S;
- Abiusi, Emanuela;
- Care, Melanie;
- Bikker, Hennie;
- Amenta, Simona;
- Feilotter, Harriet;
- Nannenberg, Eline A;
- Mazzarotto, Francesco;
- Trevisan, Valentina;
- Garcia, John;
- Hershberger, Ray E;
- Perez, Marco V;
- Sturm, Amy C;
- Ware, James S;
- Zareba, Wojciech;
- Novelli, Valeria;
- Wilde, Arthur A M;
- Gollob, Michael H
Publication type:
Article
Worldwide differences in primary prevention implantable cardioverter defibrillator utilization and outcomes in hypertrophic cardiomyopathy.
Published in:
European Heart Journal, 2021, v. 42, n. 38, p. 3932, doi. 10.1093/eurheartj/ehab598
By:
- Nauffal, Victor;
- Marstrand, Peter;
- Han, Larry;
- Parikh, Victoria N;
- Helms, Adam S;
- Ingles, Jodie;
- Jacoby, Daniel;
- Lakdawala, Neal K;
- Kapur, Sunil;
- Michels, Michelle;
- Owens, Anjali T;
- Ashley, Euan A;
- Pereira, Alexandre C;
- Rossano, Joseph W;
- Saberi, Sara;
- Semsarian, Christopher;
- Ware, James S;
- Wittekind, Samuel G;
- Day, Sharlene;
- Olivotto, Iacopo
Publication type:
Article
Understanding the genetics of adult-onset dilated cardiomyopathy: what a clinician needs to know.
Published in:
European Heart Journal, 2021, v. 42, n. 24, p. 2384, doi. 10.1093/eurheartj/ehab286
By:
- Tayal, Upasana;
- Ware, James S;
- Lakdawala, Neal K;
- Heymans, Stephane;
- Prasad, Sanjay K
Publication type:
Article
Clinical characteristics and outcomes in childhood-onset hypertrophic cardiomyopathy.
Published in:
European Heart Journal, 2021, v. 42, n. 20, p. 1988, doi. 10.1093/eurheartj/ehab148
By:
- Marston, Nicholas A;
- Han, Larry;
- Olivotto, Iacopo;
- Day, Sharlene M;
- Ashley, Euan A;
- Michels, Michelle;
- Pereira, Alexandre C;
- Ingles, Jodie;
- Semsarian, Christopher;
- Jacoby, Daniel;
- Colan, Steven D;
- Rossano, Joseph W;
- Wittekind, Samuel G;
- Ware, James S;
- Saberi, Sara;
- Helms, Adam S;
- Ho, Carolyn Y
Publication type:
Article
Integrative genomics in cardiovascular medicine.
Published in:
Cardiovascular Research, 2013, v. 97, n. 4, p. 623, doi. 10.1093/cvr/cvs303
By:
- Ware, James S.;
- Petretto, Enrico;
- Cook, Stuart A.
Publication type:
Article
Detection of mutations in KLHL3 and CUL3 in families with FHHt (familial hyperkalaemic hypertension or Gordon's syndrome).
Published in:
Clinical Science, 2014, v. 126, n. 10, p. 721, doi. 10.1042/CS20130326
By:
- GLOVER, Mark;
- WARE, James S.;
- HENRY, Amanda;
- WOLLEY, Martin;
- WALSH, Roddy;
- WAIN, Louise V.;
- Shengxin XU;
- VAN'T HOFF, William G.;
- TOBIN, Martin D.;
- HALL, Ian P.;
- COOK, Stuart;
- GORDON, Richard D.;
- STOWASSER, Michael;
- O'SHAUGHNESSY, Kevin M.
Publication type:
Article
Phenotypic and pharmacogenetic evaluation of patients with thiazide-induced hyponatremia.
Published in:
2017
By:
- Ware, James S.;
- Wain, Louise V.;
- Channavajjhala, Sarath K.;
- Jackson, Victoria E.;
- Edwards, Elizabeth;
- Run Lu;
- Siew, Keith;
- Wenjing Jia;
- Shrine, Nick;
- Kinnear, Sue;
- Jalland, Mahli;
- Henry, Amanda P.;
- Clayton, Jenny;
- O'Shaughnessy, Kevin M.;
- Tobin, Martin D.;
- Schuster, Victor L.;
- Cook, Stuart;
- Hall, Ian P.;
- Glover, Mark;
- Lu, Run
Publication type:
journal article
Predictors of left ventricular remodelling in patients with dilated cardiomyopathy - a cardiovascular magnetic resonance study.
Published in:
2020
By:
- Tayal, Upasana;
- Wage, Ricardo;
- Newsome, Simon;
- Manivarmane, Ramasamy;
- Izgi, Cemil;
- Muthumala, Amal;
- Dungu, Jason N.;
- Assomull, Ravi;
- Hatipoglu, Suzan;
- Halliday, Brian P.;
- Lota, Amrit S.;
- Ware, James S.;
- Gregson, John;
- Frenneaux, Michael;
- Cook, Stuart A.;
- Pennell, Dudley J.;
- Scott, Andrew D.;
- Cleland, John G.F.;
- Prasad, Sanjay K.
Publication type:
journal article
Association of Titin-Truncating Genetic Variants With Life-threatening Cardiac Arrhythmias in Patients With Dilated Cardiomyopathy and Implanted Defibrillators.
Published in:
JAMA Network Open, 2019, v. 2, n. 6, p. e196520, doi. 10.1001/jamanetworkopen.2019.6520
By:
- Corden, Ben;
- Jarman, Julian;
- Whiffin, Nicola;
- Tayal, Upasana;
- Buchan, Rachel;
- Sehmi, Joban;
- Harper, Andrew;
- Midwinter, William;
- Lascelles, Karen;
- Markides, Vias;
- Mason, Mark;
- Baksi, John;
- Pantazis, Antonis;
- Pennell, Dudley J.;
- Barton, Paul J.;
- Prasad, Sanjay K.;
- Wong, Tom;
- Cook, Stuart A.;
- Ware, James S.
Publication type:
Article
Loss of RNA expression and allele-specific expression associated with congenital heart disease.
Published in:
Nature Communications, 2016, v. 7, n. 9, p. 12824, doi. 10.1038/ncomms12824
By:
- McKean, David M.;
- Homsy, Jason;
- Wakimoto, Hiroko;
- Patel, Neil;
- Gorham, Joshua;
- DePalma, Steven R.;
- Ware, James S.;
- Zaidi, Samir;
- Ma, Wenji;
- Patel, Nihir;
- Lifton, Richard P.;
- Chung, Wendy K.;
- Kim, Richard;
- Shen, Yufeng;
- Brueckner, Martina;
- Goldmuntz, Elizabeth;
- Sharp, Andrew J.;
- Seidman, Christine E.;
- Gelb, Bruce D.;
- Seidman, J. G.
Publication type:
Article
Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease.
Published in:
Science Translational Medicine, 2015, v. 7, n. 270, p. 1, doi. 10.1126/scitranslmed.3010134
By:
- Roberts, Angharad M.;
- Ware, James S.;
- Herman, Daniel S.;
- Schafer, Sebastian;
- Baksi, John;
- Bick, Alexander G.;
- Buchan, Rachel J.;
- Walsh, Roddy;
- John, Shibu;
- Wilkinson, Samuel;
- Mazzarotto, Francesco;
- Felkin, Leanne E.;
- Gong, Sungsam;
- MacArthur, Jacqueline A. L.;
- Cunningham, Fiona;
- Flannick, Jason;
- Gabriel, Stacey B.;
- Altshuler, David M.;
- Macdonald, Peter S.;
- Heinig, Matthias
Publication type:
Article
Congenital Titinopathy: Comprehensive characterization and pathogenic insights.
Published in:
2018
By:
- Oates, Emily C.;
- Jones, Kristi J.;
- Donkervoort, Sandra;
- Charlton, Amanda;
- Brammah, Susan;
- Smith III, John E.;
- Ware, James S.;
- Yau, Kyle S.;
- Swanson, Lindsay C.;
- Whiffin, Nicola;
- Peduto, Anthony J.;
- Bournazos, Adam;
- Waddell, Leigh B.;
- Farrar, Michelle A.;
- Sampaio, Hugo A.;
- Teoh, Hooi Ling;
- Lamont, Phillipa J.;
- Mowat, David;
- Fitzsimons, Robin B.;
- Corbett, Alastair J.
Publication type:
journal article
Increasing adiposity and the presence of cardiometabolic morbidity is associated with increased Covid-19-related mortality: results from the UK Biobank.
Published in:
BMC Endocrine Disorders, 2021, v. 21, n. 1, p. 1, doi. 10.1186/s12902-021-00805-7
By:
- Patel, Kiran H. K.;
- Li, Xinyang;
- Quint, Jennifer K.;
- Ware, James S.;
- Peters, Nicholas S.;
- Ng, Fu Siong
Publication type:
Article
Role of Targeted Therapy in Dilated Cardiomyopathy: The Challenging Road Toward a Personalized Approach.
Published in:
2019
By:
- Verdonschot, Job A. J.;
- Hazebroek, Mark R.;
- Ware, James S.;
- Prasad, Sanjay K.;
- Heymans, Stephane R. B.
Publication type:
journal article
Improving the Understanding of Genetic Variants in Rare Disease With Large-scale Reference Populations.
Published in:
2019
By:
- Whiffin, Nicola;
- Ware, James S.;
- O'Donnell-Luria, Anne
Publication type:
journal article
Natural genetic variation of the cardiac transcriptome in non-diseased donors and patients with dilated cardiomyopathy.
Published in:
Genome Biology, 2017, v. 18, p. 1, doi. 10.1186/s13059-017-1286-z
By:
- Heinig, Matthias;
- Adriaens, Michiel E.;
- Schafer, Sebastian;
- van Deutekom, Hanneke W. M.;
- Lodder, Elisabeth M.;
- Ware, James S.;
- Schneider, Valentin;
- Felkin, Leanne E.;
- Creemers, Esther E.;
- Meder, Benjamin;
- Katus, Hugo A.;
- Rühle, Frank;
- Stoll, Monika;
- Cambien, François;
- Villard, Eric;
- Charron, Philippe;
- Varro, Andras;
- Bishopric, Nanette H.;
- George Jr, Alfred L.;
- dos Remedios, Cristobal
Publication type:
Article
An assessment of the role of vinculin loss of function variants in inherited cardiomyopathy.
Published in:
Human Mutation, 2020, v. 41, n. 9, p. 1577, doi. 10.1002/humu.24061
By:
- Hawley, Megan H.;
- Almontashiri, Naif;
- Biesecker, Leslie G.;
- Berger, Natalie;
- Chung, Wendy K.;
- Garcia, John;
- Grebe, Theresa A.;
- Kelly, Melissa A.;
- Lebo, Matthew S.;
- Macaya, Daniela;
- Mei, Hui;
- Platt, Julia;
- Richard, Gabi;
- Ryan, Ashley;
- Thomson, Kate L.;
- Vatta, Matteo;
- Walsh, Roddy;
- Ware, James S.;
- Wheeler, Matthew;
- Zouk, Hana
Publication type:
Article
Paralogous annotation of disease-causing variants in long QT syndrome genes.
Published in:
Human Mutation, 2012, v. 33, n. 8, p. 1188, doi. 10.1002/humu.22114
By:
- Ware, James S.;
- Walsh, Roddy;
- Cunningham, Fiona;
- Birney, Ewan;
- Cook, Stuart A.
Publication type:
Article
Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genes.
Published in:
European Heart Journal, 2017, v. 38, n. 46, p. 3461, doi. 10.1093/eurheartj/ehw603
By:
- Walsh, Roddy;
- Buchan, Rachel;
- Wilk, Alicja;
- John, Shibu;
- Felkin, Leanne E.;
- Thomson, Kate L.;
- Tang Hak Chiaw;
- Chin Woon Loong, Calvin;
- Chee Jian Pua;
- Raphael, Claire;
- Prasad, Sanjay;
- Barton, Paul J.;
- Funke, Birgit;
- Watkins, Hugh;
- Ware, James S.;
- Cook, Stuart A.
Publication type:
Article

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