المؤلفون: Roddy Walsh, Francesco Mazzarotto, Nicola Whiffin, Rachel Buchan, William Midwinter, Alicja Wilk, Nicholas Li, Leanne Felkin, Nathan Ingold, Risha Govind, Mian Ahmad, Erica Mazaika, Mona Allouba, Xiaolei Zhang, Antonio de Marvao, Sharlene M. Day, Euan Ashley, Steven D. Colan, Michelle Michels, Alexandre C. Pereira, Daniel Jacoby, Carolyn Y. Ho, Kate L. Thomson, Hugh Watkins, Paul J. R. Barton, Iacopo Olivotto, Stuart A. Cook, James S. Ware

المصدر: Genome Medicine, Vol 11, Iss 1, Pp 1-18 (2019)

مصطلحات موضوعية: Variant interpretation, Mendelian genetics, Hypertrophic cardiomyopathy, ACMG/AMP guidelines, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s13073-019-0616-zTest; https://doaj.org/toc/1756-994XTest

الوصول الحر: https://doaj.org/article/dff8a2d61caa43d29ddbbb7e3f495ffeTest

المؤلفون: Neema P Mayor, James Robinson, Alasdair J M McWhinnie, Swati Ranade, Kevin Eng, William Midwinter, Will P Bultitude, Chen-Shan Chin, Brett Bowman, Patrick Marks, Henny Braund, J Alejandro Madrigal, Katy Latham, Steven G E Marsh

المصدر: PLoS ONE, Vol 10, Iss 5, p e0127153 (2015)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

العلاقة: http://europepmc.org/articles/PMC4446346?pdf=renderTest; https://doaj.org/toc/1932-6203Test

الوصول الحر: https://doaj.org/article/6fdb794717194bb88757288f322ff6a8Test

المؤلفون: Xiaolei Zhang, Roddy Walsh, Nicola Whiffin, Rachel Buchan, William Midwinter, Alicja Wilk, Risha Govind, Nicholas Li, Muzammil Ahmad, Francesco Mazzarotto, Angharad Roberts, Pantazis Theotokis, Erica Mazaika, Mona Allouba, Antonio de Marvao, Chee Jian Pua, Sharlene M. Day, Euan A. Ashley, Steven D. Colan, Michelle Michels, Alexandre C. Pereira, Daniel Jacoby, Carolyn Y. Ho, Iacopo Olivotto, Gunnar Gunnarsson, John L. Jefferies, C. Semsarian, Jodie Ingles, Declan P. O'Regan, Yasmine Aguib, Magdi H. Yacoub, Stuart A. Cook, Paul J.R. Barton, Leonardo Bottolo, James S. Ware

مصطلحات موضوعية: Diagnosis and Management of Hypertrophic Cardiomyopathy, Cardiology and Cardiovascular Medicine, Medicine, Health Sciences, Standards and Guidelines for Genetic Variant Interpretation, Genetics, FOS Biological sciences, Biochemistry, Genetics and Molecular Biology, Life Sciences, Molecular Mechanisms of Cardiac Development and Regeneration, Molecular Biology, Pathogenicity Prediction, Missense mutation, Disease, Pathogenicity, Loss function, Confidence interval, Cardiomyopathy, Computational biology, Bioinformatics, FOS Computer and information sciences, Biology, Gene, Phenotype, Internal medicine, Heart failure, Microbiology

العلاقة: https://dx.doi.org/10.60692/9mk2x-msf97Test

الإتاحة: https://doi.org/10.60692/x9m18-sxf2710.60692/9mk2x-msf97Test

المؤلفون: Carolyn Y. Ho, Declan P. O'Regan, Michelle Michels, Magdi H. Yacoub, William Midwinter, Roddy Walsh, Mian Ahmad, Francesco Mazzarotto, Antonio de Marvao, Euan A. Ashley, Risha Govind, Alexandre C. Pereira, John L. Jefferies, Jodie Ingles, Alicja Wilk, Nicola Whiffin, Xiaolei Zhang, Leonardo Bottolo, Nicholas Li, James S. Ware, Angharad M. Roberts, Christopher Semsarian, Iacopo Olivotto, Paul J.R. Barton, Pantazis I. Theotokis, Daniel Jacoby, Mona Allouba, Yasmine Aguib, Stuart A. Cook, Steven D. Colan, Sharlene M. Day, Chee Jian Pua, Erica Mazaika, Rachel Buchan, Gunnar Gunnarsson

المساهمون: Ware, James S. [0000-0002-6110-5880], Apollo - University of Cambridge Repository, Cardiology, Wellcome Trust, Ware, James S [0000-0002-6110-5880], Royal Brompton & Harefield NHS Foundation Trust, Imperial College Healthcare NHS Trust- BRC Funding, British Heart Foundation

المصدر: Genetics in Medicine, 23(1), 69-79. Lippincott Williams & Wilkins
Genetics in Medicine

مصطلحات موضوعية: pathogenicity prediction, Cardiomyopathy, Disease, 030204 cardiovascular system & hematology, Bioinformatics, Genome, 0302 clinical medicine, Missense mutation, MUTATION, Uncertain significance, Genetics (clinical), Brugada syndrome, Genetics & Heredity, Disease gene, 0303 health sciences, Virulence, Hypertrophic cardiomyopathy, article, Middle Aged, GENOTYPE, 3. Good health, Area Under Curve, symbols, cardiomyopathy, long QT syndrome, missense variant interpretation, Algorithms, Humans, Cardiomyopathies, Mutation, Missense, Life Sciences & Biomedicine, Disease specific, Long QT syndrome, Computational biology, Biology, 03 medical and health sciences, symbols.namesake, medicine, 030304 developmental biology, 0604 Genetics, Science & Technology, business.industry, 1103 Clinical Sciences, medicine.disease, Pathogenicity, Confidence interval, Mendelian inheritance, Missense, business

وصف الملف: text/xml; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bff7b0dc43fff7b520391ea4dbbab260Test
https://doi.org/10.1101/2020.03.27.010736Test

المؤلفون: K Thomson, Pantazis I. Theotokis, Antonio de Marvao, Mian Ahmad, Risha Govind, Alicja Wilk, Sanjay K Prasad, Nicola Whiffin, Alexander Ing, Stuart A. Cook, Francesco Mazzarotto, David Sim, A. John Baksi, Upasana Tayal, Elizabeth Edwards, Leanne E. Felkin, Angharad M. Roberts, Iacopo Olivotto, Declan P. O'Regan, Antonis Pantazis, Rachel Buchan, James S. Ware, Laura Lihua Chan, Roddy Walsh, William Midwinter, Timothy J W Dawes, Erica Mazaika, Paul J.R. Barton, Hugh Watkins, Birgit Funke

المساهمون: Cardiology, British Heart Foundation, Wellcome Trust, Medical Research Council (MRC), Fondation Leducq, Department of Health, Imperial College Healthcare NHS Trust- BRC Funding, Commission of the European Communities, Rosetrees Trust, Mason Medical Research Foundation, The Academy of Medical Sciences

المصدر: Circulation
Circulation, 141(5), 387-398. Lippincott Williams and Wilkins

مصطلحات موضوعية: Male, 0301 basic medicine, Cardiac & Cardiovascular Systems, TITIN, 030204 cardiovascular system & hematology, ExAC, 0302 clinical medicine, Original Research Articles, Medicine, Exome, 1102 Cardiorespiratory Medicine and Haematology, Disease gene, Genetics, medicine.diagnostic_test, biology, Dilated cardiomyopathy, musculoskeletal system, 3. Good health, ComputingMethodologies_DOCUMENTANDTEXTPROCESSING, symbols, cardiovascular system, Female, Titin, Cardiology and Cardiovascular Medicine, Life Sciences & Biomedicine, Adult, Cardiomyopathy, Dilated, rare variant association testing, Adolescent, 1117 Public Health and Health Services, genetic testing, Genetic Heterogeneity, Young Adult, 03 medical and health sciences, symbols.namesake, dilated cardiomyopathy, Mendelian genetics, Physiology (medical), Humans, Genetic Predisposition to Disease, cardiovascular diseases, Gene, Adaptor Proteins, Signal Transducing, Genetic testing, Science & Technology, MUTATIONS, business.industry, Genetic heterogeneity, 1103 Clinical Sciences, medicine.disease, 030104 developmental biology, Peripheral Vascular Disease, Cardiovascular System & Hematology, Cardiovascular System & Cardiology, Mendelian inheritance, biology.protein, Apoptosis Regulatory Proteins, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb6d5f50cc6112a9c66a70ac46ac1400Test
http://hdl.handle.net/11379/545740Test

المؤلفون: S Prasad, Francesco Mazzarotto, B Funke, Nicola Whiffin, Rachel Buchan, I Olivotto, Alicja Wilk, William Midwinter, Roddy Walsh, Paul J.R. Barton, Declan P. O'Regan, Sarah Cook, J S Ware, H Watkins, Upasana Tayal

المصدر: European Heart Journal. 40

مصطلحات موضوعية: medicine.medical_specialty, business.industry, Internal medicine, Cardiology, medicine, Dilated cardiomyopathy, Cardiology and Cardiovascular Medicine, medicine.disease, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::868769d35389167f47d7b1e1138ea3e7Test
https://doi.org/10.1093/eurheartj/ehz745.0136Test

المؤلفون: Ben, Corden, Julian, Jarman, Nicola, Whiffin, Upasana, Tayal, Rachel, Buchan, Joban, Sehmi, Andrew, Harper, William, Midwinter, Karen, Lascelles, Vias, Markides, Mark, Mason, John, Baksi, Antonis, Pantazis, Dudley J, Pennell, Paul J, Barton, Sanjay K, Prasad, Tom, Wong, Stuart A, Cook, James S, Ware

المصدر: JAMA Network Open

مصطلحات موضوعية: Adult, Cardiomyopathy, Dilated, Male, Research, Cardiology, Genetic Variation, Arrhythmias, Cardiac, Middle Aged, Defibrillators, Implantable, Online Only, Phenotype, cardiovascular system, Humans, Connectin, Female, cardiovascular diseases, Aged, Retrospective Studies, Original Investigation

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::5b6c175c807a71e6d349246938ffea2aTest
https://pubmed.ncbi.nlm.nih.gov/31251381Test

المؤلفون: Francesco Mazzarotto, Paz Tayal, Rachel Buchan, William Midwinter, Alicja Wilk, Nicola Whiffin, Risha Govind, Erica Mazaika, Antonio De Marvao, Leanne Felkin, Timothy Dawes, Mian Ahmad, Elizabeth Edwards, Alexander Ing, Kate Thomson, Laura Chan, David Sim, John Baksi, Antonis Pantazis, Angharad Roberts, Hugh Watkins, Birgit Funke, Declan O’Regan, Iacopo Olivotto, Paul Barton, Sanjay Prasad, Stuart Cook, James Ware, Roddy Walsh

المصدر: Valve Disease/Pericardial Disease/Cardiomyopathy.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::a4dd83d9d5359852329f2eeba392260fTest
https://doi.org/10.1136/heartjnl-2019-bcs.118Test

المؤلفون: Steven D. Colan, Rachel Buchan, Daniel Jacoby, Alexandre C. Pereira, Hugh Watkins, Leanne E. Felkin, Michelle Michels, Carolyn Y. Ho, Mian Ahmad, Sharlene M. Day, Mona Allouba, Roddy Walsh, Iacopo Olivotto, Antonio de Marvao, Francesco Mazzarotto, Risha Govind, Stuart A. Cook, Alicja Wilk, Xiaolei Zhang, James S. Ware, Erica Mazaika, Nathan Ingold, Paul J.R. Barton, Nicola Whiffin, Nicholas Li, William Midwinter, Euan A. Ashley, K Thomson

المساهمون: British Heart Foundation, Fondation Leducq, Wellcome Trust, Department of Health, Royal Brompton & Harefield NHS Foundation Trust, Imperial College Healthcare NHS Trust- BRC Funding, Cardiology

المصدر: Genome Medicine, 11:5. BioMed Central Ltd.
Genome Medicine, Vol 11, Iss 1, Pp 1-18 (2019)
Genome Medicine

مصطلحات موضوعية: lcsh:QH426-470, Cardiomyopathy, lcsh:Medicine, ESC, Computational biology, Disease, 030204 cardiovascular system & hematology, Biology, Mendelian disease, GUIDELINES, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, medicine, Humans, ACMG/AMP guidelines, Genetic Testing, Likely pathogenic, Variant interpretation, 030304 developmental biology, Genetic testing, Genetics & Heredity, 0303 health sciences, 0604 Genetics, Science & Technology, medicine.diagnostic_test, VENTRICULAR-ARRHYTHMIAS, Research, lcsh:R, Hypertrophic cardiomyopathy, 1103 Clinical Sciences, Cardiomyopathy, Hypertrophic, Functional prediction, medicine.disease, 3. Good health, lcsh:Genetics, Hypertrophic, ACMG, Mendelian genetics, Practice Guidelines as Topic, Mutation, Mendelian inheritance, symbols, AMP guidelines, False positive rate, Life Sciences & Biomedicine, PATHOGENICITY

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1e6195021ab569e034bbc901320cbf0Test
http://hdl.handle.net/11379/551649Test

المؤلفون: Domingo A. Pascual-Figal, Pablo García-Pavía, William Midwinter, M.A. Restrepo Cordoba, Alicja Wilk, P.J. Barton, S A Cook, Mariano Provencio, Luis Alonso-Pulpón, Alexander R. Lyon, I Serrano, J M Garcia Pinilla, Antoni Bayes-Genis, J S Ware, Risha Govind

المصدر: European Heart Journal. 39

مصطلحات موضوعية: Chemotherapy induced cardiomyopathy, Oncology, medicine.medical_specialty, business.industry, Internal medicine, Medicine, Cardiology and Cardiovascular Medicine, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::914db20467e0b239fa8f6014d0e7e556Test
https://doi.org/10.1093/eurheartj/ehy565.p1503Test