المؤلفون: McGurk, K, Zhang, X, Theotokis, P, Thomson, K, Harper, A, Buchan, R, Mazaika, E, Ormondroyd, E, Wright, W, Macaya, D, Chee Jian, P, Funke, B, MacArthur, D, Prasad, S, Cook, S, Allouba, M, Aguib, Y, Yacoub, M, O'Regan, D, Barton, P, Watkins, H, Bottolo, L, Ware, J

المصدر: 1495 ; 1482

Relation: American Journal of Human Genetics; http://hdl.handle.net/10044/1/105824

الاتاحة: http://hdl.handle.net/10044/1/105824
https://doi.org/10.1016/j.ajhg.2023.08.003

المؤلفون: Zhang, X, Walsh, R, Whiffin, N, Buchan, R, Midwinter, W, Wilk, A, Govind, R, Li, N, Ahmad, M, Mazzarotto, F, Roberts, A, Theotokis, PI, Mazaika, E, Allouba, M, de Marvao, A, Pua, CJ, Day, S M, Ashley, E, Colan, SD, Michels, Michelle, Pereira, AC, Jacoby, D, Ho, CY, Olivotto, I, Gunnarsson, GT, Jefferies, JL, Semsarian, C, Ingles, J, O’Regan, DP, Aguib, Y, Yacoub, MH, Cook, SA, Barton, PJR, Bottolo, L, Ware, JS

المصدر: Zhang , X , Walsh , R , Whiffin , N , Buchan , R , Midwinter , W , Wilk , A , Govind , R , Li , N , Ahmad , M , Mazzarotto , F , Roberts , A , Theotokis , PI , Mazaika , E , Allouba , M , de Marvao , A , Pua , CJ , Day , S M , Ashley , E , Colan , SD , Michels , M , Pereira , AC , Jacoby , D , Ho , CY , Olivotto , I , Gunnarsson ....

مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCOR01, name=EMC OR-01

وصف الملف: application/pdf

الاتاحة: https://pure.eur.nl/en/publications/0aff1bc3-fe50-4585-82ed-08119f0fa48e
https://doi.org/10.1038/s41436-020-00972-3
https://pure.eur.nl/ws/files/58929600/1_s2.0_S1098360021025259_main.pdf
http://www.scopus.com/inward/record.url?scp=85092410595&partnerID=8YFLogxK
https://www.nature.com/articles/s41436-020-00972-3.pdf

المؤلفون: Mazzarotto, F, Tayal, U, Buchan, RJ, Midwinter, W, Wilk, A, Whiffin, N, Govind, R, Mazaika, E, de Marvao, A, Dawes, TJW, Felkin, LE, Ahmad, M, Theotokis, PI, Edwards, E, Ing, AY, Thomson, KL, Chan, LHL, Sim, D, Baksi, AJ, Pantazis, A, Roberts, AM, Watkins, H, Funke, B, O'Regan, DP, Olivotto, I, Barton, PJR, Prasad, SK, Cook, SA, Ware, JS, Walsh, R

Relation: https://ora.ox.ac.uk/objects/uuid:e2809914-db29-46fc-b023-658c422ff9f2; https://doi.org/10.1161/circulationaha.119.037661

الاتاحة: https://doi.org/10.1161/circulationaha.119.037661
https://ora.ox.ac.uk/objects/uuid:e2809914-db29-46fc-b023-658c422ff9f2

المؤلفون: Walsh, R., Mazzarotto, F., Whiffin, N, Buchan, R., Midwinter, W., Wilk, A., Li, N, Felkin, L., Ingold, N., Govind, R., Ahmad, M. (Margaret), Mazaika, E., Allouba, M., Zhang, XL, de Marvao, A., Day, S. M., Ashley, E., Colan, S.D. (Steven), Michels, M. (Michelle), Pereira, AC, Jacoby, D., Ho, C.Y. (Carolyn), Thomson, K.L., Watkins, H. (Hugh), Barton, P.J.R., Olivotto, I, Cook, S.A. (S.), Ware, J.S.

المصدر: Genome Medicine vol. 11

مصطلحات موضوعية: Variant interpretation, Mendelian genetics, Hypertrophic cardiomyopathy, ACMG/AMP guidelines

وصف الملف: application/pdf

Relation: http://repub.eur.nl/pub/114921; urn:hdl:1765/114921

الاتاحة: http://repub.eur.nl/pub/114921
https://doi.org/10.1186/s13073-019-0616-z

المؤلفون: Mazzarotto, F, Tayal, U, Buchan, RJ, Midwinter, W, Wilk, A, Whiffin, N, Govind, R, Mazaika, E, De Marvao, A, Dawes, T, Felkin, LE, Ahmad, M, Theotokis, PI, Edwards, E, Ing, AI, Thomson, KL, Chan, LLH, Sim, D, Baksi, AJ, Pantazis, A, Roberts, AM, Watkins, H, Funke, B, O'Regan, D, Olivotto, I, Barton, PJR, Prasad, SK, Cook, SA, Ware, JS, Walsh, R

المساهمون: 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: 398 ; 387

مصطلحات موضوعية: Science & Technology, Life Sciences & Biomedicine, Cardiac & Cardiovascular Systems, Peripheral Vascular Disease, Cardiovascular System & Cardiology, dilated cardiomyopathy, ExAC, genetic testing, Mendelian genetics, rare variant association testing, MUTATIONS, TITIN, Adaptor Proteins, Signal Transducing, Adolescent, Adult, Apoptosis Regulatory Proteins, Cardiomyopathy, Dilated, Exome, Female, Genetic Heterogeneity, Genetic Predisposition to Disease, Humans, Male, Young Adult

Relation: Circulation; http://hdl.handle.net/10044/1/75254; SP/10/10/28431; 107469/Z/15/Z; RG/19/6/34387; MR/M003191/1; 11 CVD-01; HICF-R6-373; RDC04; NH/17/1/32725; RDB02; 289600; 100134/Z/12/Z; SP/17/11/32885; M735; RE/18/4/34215; N/A; SGL015/1006

الاتاحة: http://hdl.handle.net/10044/1/75254
https://doi.org/10.1161/CIRCULATIONAHA.119.037661

المؤلفون: Walsh, R, Mazzarotto, F, Whiffin, N, Buchan, R, Midwinter, W, Wilk, A, Li, N, Felkin, L, Ingold, N, Govind, R, Ahmad, M, Mazaika, E, Allouba, M, Zhang, X, Marvao, AD, Day, S, Ashley, E, Colan, S, Michels, M, Pereira, A, Jacoby, D, Ho, C, Thomson, K, Watkins, H, Barton, PJR, Olivotto, I, Cook, S, Ware, J

Relation: http://hdl.handle.net/10044/1/82591

الاتاحة: http://hdl.handle.net/10044/1/82591
https://doi.org/10.1101/381467

المؤلفون: Mazzarotto F, Tayal P, Buchan R, Midwinter W, Wilk A, Whiffin N, Govind R, Mazaika E, De Marvao A, Felkin L, Dawes T, Ahmad M, Edwards E, Ing A, Thomson K, Chan L, Sim D, Baksi J, Pantazis A, Roberts A, Watkins H, Funke B, O'Regan D, Olivotto I, Barton P, Prasad S, Cook S, Ware J, Walsh R

المساهمون: Mazzarotto F, Tayal P, Buchan R, Midwinter W, Wilk A, Whiffin N, Govind R, Mazaika E, De Marvao A, Felkin L, Dawes T, Ahmad M, Edwards E, Ing A, Thomson K, Chan L, Sim D, Baksi J, Pantazis A, Roberts A, Watkins H, Funke B, O'Regan D, Olivotto I, Barton P, Prasad S, Cook S, Ware J, Walsh R

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000471903800119; journal:HEART; http://hdl.handle.net/11379/545706

الاتاحة: http://hdl.handle.net/11379/545706

المؤلفون: Zhang, X, Walsh, R, Whiffin, N, Buchan, R, Midwinter, W, Wilk, A, Govind, R, Li, N, Ahmad, M, Mazzarotto, F, Roberts, A, Theotokis, P, Mazaika, E, Allouba, M, De Marvao, A, Pua, CJ, Day, SM, Ashley, E, Colan, SD, Michels, M, Pereira, AC, Jacoby, D, Ho, CY, Olivotto, I, Gunnarsson, GT, Jefferies, J, Semsarian, C, Ingles, J, O’Regan, DP, Aguib, Y, Yacoub, MH, Cook, SA, Barton, PJR, Bottolo, L, Ware, JS

المساهمون: Wellcome Trust

مصطلحات موضوعية: Genetics & Heredity, 0604 Genetics, 1103 Clinical Sciences

Relation: 10044/1/83594; http://hdl.handle.net/10044/1/83594; Genetics in Medicine; http://hdl.handle.net/10044/1/82764; 107469/Z/15/Z

الاتاحة: http://hdl.handle.net/10044/1/82764

المؤلفون: Garcia-Pavia, P, Kim, Y, Restrepo-Cordoba, MA, Lunde, IG, Wakimoto, H, Smith, AM, Toepfer, CN, Getz, K, Gorham, J, Patel, P, Ito, K, Willcox, JA, Arany, Z, Li, J, Owens, AT, Govind, R, Nuñez, B, Mazaika, E, Bayes-Genis, A, Walsh, R, Finkelman, B, Lupon, J, Whiffin, N, Serrano, I, Midwinter, W, Wilk, A, Bardaji, A, Ingold, N, Buchan, R, Tayal, U, Pascual-Figal, DA, De Marvao, A, Ahmad, M, Garcia-Pinilla, JM, Pantazis, A, Dominguez, F, John Baksi, A, O'Regan, DP, Rosen, SD, Prasad, SK, Lara-Pezzi, E, Provencio, M, Lyon, AR, Alonso-Pulpon, L, Cook, SA, DePalma, SR, Barton, PJR, Aplenc, R, Seidman, JG, Ky, B, Ware, JS, Seidman, CE

المساهمون: Instituto de Salud Carlos III, Ministerio de Economía y Competitividad (España), Wellcome Trust, Medical Research Council (Reino Unido), National Institute for Health Research (Reino Unido), Imperial College London (Reino Unido), Fondation Leducq, British Heart Foundation, National Institutes of Health (Estados Unidos), Howard Hughes Medical Institute, Fundación ProCNIC, Unión Europea. Fondo Europeo de Desarrollo Regional (FEDER/ERDF), Department of Health, Royal Brompton & Harefield NHS Foundation Trust, Imperial College Healthcare NHS Trust- BRC Funding, Rosetrees Trust, The Academy of Medical Sciences

المصدر: Circulation
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
Repisalud
Instituto de Salud Carlos III (ISCIII)

مصطلحات موضوعية: CARDIOTOXICITY, cardiomyopathies, Adult, Male, Cardiac & Cardiovascular Systems, FAMILIAL DILATED CARDIOMYOPATHY, Antineoplastic Agents, Mice, Transgenic, TITIN, 1117 Public Health and Health Services, Cohort Studies, Mice, Neoplasms, A-BAND TRUNCATION, Animals, Humans, genetics, titin, Prospective Studies, AMERICAN SOCIETY, 1102 Cardiorespiratory Medicine and Haematology, POLYMORPHISMS, Aged, Retrospective Studies, Science & Technology, CONGESTIVE-HEART-FAILURE, MUTATIONS, Genetic Variation, 1103 Clinical Sciences, CHEMOTHERAPY, Middle Aged, medical oncology, drug therapy, Mice, Inbred C57BL, Peripheral Vascular Disease, Cardiovascular System & Hematology, Cardiovascular System & Cardiology, Female, ECHOCARDIOGRAPHY, Cardiomyopathies, Life Sciences & Biomedicine

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::ab94f88417d0f5971f353ebde1cc5ef7
https://hdl.handle.net/10668/13834

المؤلفون: Walsh, R, Mazzarotto, F, Whiffin, N, Buchan, R, Midwinter, W, Wilk, A, Li, N, Felkin, L, Ingold, N, Govind, R, Ahmad, M, Mazaika, E, Allouba, M, Zhang, XL, de Marvao, A, Day, S M, Ashley, E, Colan, SD, Michels, Michelle, Pereira, AC, Jacoby, D, Ho, CY, Thomson, KL, Watkins, H, Barton, PJR, Olivotto, I, Cook, SA, Ware, JS

المصدر: Walsh , R , Mazzarotto , F , Whiffin , N , Buchan , R , Midwinter , W , Wilk , A , Li , N , Felkin , L , Ingold , N , Govind , R , Ahmad , M , Mazaika , E , Allouba , M , Zhang , XL , de Marvao , A , Day , S M , Ashley , E , Colan , SD , Michels , M , Pereira , AC , Jacoby , D , Ho , CY , Thomson , KL , Watkins , H , Barton , PJR , Olivotto , I , Cook , SA & Ware , JS 2019 , ' Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathy ' , Genome Medicine , vol. 11 , 5 .

مصطلحات الفهرس: dk/atira/pure/keywords/researchprograms/AFL001000/EMCCOEUR09; name=EMC COEUR-09, article

URL: https://pure.eur.nl/en/publications/2ad047de-db3d-40cb-b486-8616b438e8f4

المؤلفون: Ware JS, Li J, Mazaika E, Yasso CM, DeSouza T, Cappola TP, Tsai EJ, Hilfiker-Kleiner D, Kamiya CA, Mazzarotto F, Cook SA, Halder I, Prasad SK, Pisarcik J, Hanley-Yanez K, Alharethi R, Damp J, Hsich E, Elkayam U, Sheppard R, Kealey A, Alexis J, Ramani G, Safirstein J, Boehmer J, Pauly DF, Wittstein IS, Thohan V, Zucker MJ, Liu P, Gorcsan J, McNamara DM, Seidman CE, Seidman JG, Arany Z

المساهمون: Ware J, Li J, Mazaika E, Yasso Cm, Desouza T, Cappola Tp, Tsai Ej, Hilfiker-Kleiner D, Kamiya Ca, Mazzarotto F, Cook Sa, Halder I, Prasad Sk, Pisarcik J, Hanley-Yanez K, Alharethi R, Damp J, Hsich E, Elkayam U, Sheppard R, Kealey A, Alexis J, Ramani G, Safirstein J, Boehmer J, Pauly Df, Wittstein I, Thohan V, Zucker Mj, Liu P, Gorcsan J, Mcnamara Dm, Seidman Ce, Seidman Jg, Arany Z

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000368404800008; volume:374; issue:3; firstpage:233; lastpage:241; numberofpages:9; journal:NEW ENGLAND JOURNAL OF MEDICINE; http://hdl.handle.net/11379/545716; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84988366010

الاتاحة: http://hdl.handle.net/11379/545716
https://doi.org/10.1056/NEJMoa1505517

المؤلفون: Ware J.S., Li J., Mazaika E., Yasso C.M., De Souza T., Cappola T.P., Tsai E.J., Hilfiker-Kleiner D., Kamiya C.A., Mazzarotto F., Cook S.A., Halder I., Prasad S.K., Pisarcik J., Hanley-Yanez K., Alharethi R., Damp J., Hsich E., Elkayam U., Sheppard R., Kealey A., Alexis J., Ramani G., Safirstein J., Boehmer J., Pauly D.F., Wittstein I.S., Thohan V., Zucker M.J., Liu P., Gorcsan J., III, McNamara D.M., Seidman C.E., Seidman J.G., Arany Z.

المساهمون: DUKE-NUS MEDICAL SCHOOL

المصدر: Scopus

Relation: Ware J.S., Li J., Mazaika E., Yasso C.M., De Souza T., Cappola T.P., Tsai E.J., Hilfiker-Kleiner D., Kamiya C.A., Mazzarotto F., Cook S.A., Halder I., Prasad S.K., Pisarcik J., Hanley-Yanez K., Alharethi R., Damp J., Hsich E., Elkayam U., Sheppard R., Kealey A., Alexis J., Ramani G., Safirstein J., Boehmer J., Pauly D.F., Wittstein I.S., Thohan V., Zucker M.J., Liu P., Gorcsan J., III, McNamara D.M., Seidman C.E., Seidman J.G., Arany Z. (2016). Shared genetic predisposition in Peripartum and dilated cardiomyopathies. New England Journal of Medicine 374 (3) : 233-241. ScholarBank@NUS Repository. https://doi.org/10.1056/NEJMoa1505517; 284793; http://scholarbank.nus.edu.sg/handle/10635/150847

الاتاحة: http://scholarbank.nus.edu.sg/handle/10635/150847

المؤلفون: Ware, JS, Li, J, Mazaika, E, Yasso, C, DeSouza, T, Cappola, T, Tsai, EJ, Hilfiker Kleiner, D, Kamiya, CA, Mazzarotto, F, Cook, SA, Halder, I, Prasad, SK, Pisarcik, J, Hanley Yanez, K, Alharethi, R, Damp, J, Hsich, E, Elkayam, U, Sheppard, R, Kealey, A, Alexis, J, Ramani, G, Safirstein, J, Boehmer, J, Pauly, DF, Wittstein, IS, Thohan, V, Zucker, MJ, Liu, P, Gorcsan, J, McNamara, DM, Seidman, CE, Seidman, JG, Arany, Z

المساهمون: Commission of the European Communities, British Heart Foundation

مصطلحات موضوعية: Adult, Cardiomyopathy, Dilated, OUTCOMES, Science & Technology, MUTATIONS, Pregnancy Complications, Cardiovascular, Stroke Volume, Sequence Analysis, DNA, IMAC-2 and IPAC Investigators, GENOME, Medicine, General & Internal, Pregnancy, General & Internal Medicine, Case-Control Studies, Mutation, Peripartum Period, Humans, Protein Isoforms, FAMILIAL OCCURRENCE, Connectin, Female, Genetic Predisposition to Disease, Cardiomyopathies, Life Sciences & Biomedicine, 11 Medical and Health Sciences

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______1032::bedcdf9745acf993fd6527843a19abc9
http://hdl.handle.net/10044/1/28795

المؤلفون: Glessner, J. T., Bick, A. G., Ito, K., Homsy, J. G., Rodriguez-Murillo, L., Fromer, M., Mazaika, E., Vardarajan, B., Italia, M., Leipzig, J., DePalma, S. R., Golhar, R., Sanders, S. J., Yamrom, B., Ronemus, M., Iossifov, I., Willsey, A. J., State, M. W., Kaltman, J. R., White, P. S., Shen, Y., Warburton, D., Brueckner, M., Seidman, C., Goldmuntz, E., Gelb, B. D., Lifton, R., Seidman, J., Hakonarson, H., Chung, W. K.

مصطلحات موضوعية: copy number variants, de novo mutation, single nucleotide polymorphism, whole exome sequencing

Relation: Glessner, J. T., Bick, A. G., Ito, K., Homsy, J. G., Rodriguez-Murillo, L., Fromer, M., Mazaika, E., Vardarajan, B., Italia, M., Leipzig, J., DePalma, S. R., Golhar, R., Sanders, S. J., Yamrom, B., Ronemus, M., Iossifov, I., Willsey, A. J., State, M. W., Kaltman, J. R., White, P. S., Shen, Y., Warburton, D., Brueckner, M., Seidman, C., Goldmuntz, E., Gelb, B. D., Lifton, R., Seidman, J., Hakonarson, H., Chung, W. K. (October 2014) Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data. Circulation Research, 115 (10). pp. 884-96. ISSN 0009-7330

الاتاحة: http://repository.cshl.edu/id/eprint/30928/
http://www.ncbi.nlm.nih.gov/pubmed/25205790
https://doi.org/10.1161/circresaha.115.304458

المؤلفون: Ware, J. S., Li, J., Mazaika, E., Yasso, C. M., DeSouza, T., Cappola, T. P., Tsai, E. J., Hilfiker-Kleiner, D., Kamiya, C. A., Mazzarotto, F., Cook, S. A., Halder, I., Prasad, S. K., Pisarcik, J., Hanley-Yanez, K., Alharethi, R., Damp, J., Hsich, E., Elkayam, U., Sheppard, R.

المصدر: Obstetric Anesthesia Digest; 2016, Vol. 36 Issue 3, p144-145, 2p