المؤلفون: Mitra Kabir, Helen M. Stuart, Filipa M. Lopes, Elisavet Fotiou, Bernard Keavney, Andrew J. Doig, Adrian S. Woolf, Kathryn E. Hentges

المصدر: Scientific Reports, Vol 13, Iss 1, Pp 1-13 (2023)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2045-2322

URL الوصول: https://doaj.org/article/f53fdbd76f954105b41d5e7e7e993256

المؤلفون: Siobhan Crilly, Alexandra Njegic, Sarah E. Laurie, Elisavet Fotiou, Georgina Hudson, Jack Barrington, Kirsty Webb, Helen L. Young, Andrew P. Badrock, Adam Hurlstone, Jack Rivers-Auty, Adrian R. Parry-Jones, Stuart M. Allan, Paul R. Kasher

المصدر: F1000Research, Vol 7 (2018)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://f1000research.com/articles/7-1617/v2; https://doaj.org/toc/2046-1402

URL الوصول: https://doaj.org/article/4ae87017fdee48b597a54b019f099a8b

المؤلفون: Elisavet Fotiou, Silvia Martin-Almedina, Michael A. Simpson, Shin Lin, Kristiana Gordon, Glen Brice, Giles Atton, Iona Jeffery, David C. Rees, Cyril Mignot, Julie Vogt, Tessa Homfray, Michael P. Snyder, Stanley G. Rockson, Steve Jeffery, Peter S. Mortimer, Sahar Mansour, Pia Ostergaard

المصدر: Nature Communications, Vol 10, Iss 1, Pp 1-1 (2019)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/e07e02869c1341999b9a713136862533

المؤلفون: David Robertson, Kathryn E. Hentges, Simon G. Williams, Bernard Keavney, Alexandra Martin-Geary, Elisavet Fotiou, Gennadiy Tenin

المصدر: Circulation. Cardiovascular Genetics
Fotiou, E, Williams, S, Martin-Geary, A, Robertson, D, Tenin, BSc, MSc, PhD, G, Hentges, K & Keavney, B 2019, ' Integration of Large-Scale Genomic Data Sources With Evolutionary History Reveals Novel Genetic Loci for Congenital Heart Disease ', Circulation . https://doi.org/10.1161/CIRCGEN.119.002694

مصطلحات موضوعية: Heart Defects, Congenital, Male, Heart disease, DNA Copy Number Variations, workflow, Genomic data, Information Storage and Retrieval, Genomics, 030204 cardiovascular system & hematology, whole exome sequencing, 03 medical and health sciences, 0302 clinical medicine, copy number variants, DNA, Gene Duplication, evolution, Databases, Genetic, medicine, genomics, Humans, copy number variant, Copy-number variation, whole-exome sequencing, Exome sequencing, 030304 developmental biology, 0303 health sciences, business.industry, Genetic variants, General Medicine, Original Articles, nucleotide, medicine.disease, Evolutionary biology, Genetic Loci, Etiology, ComputingMethodologies_DOCUMENTANDTEXTPROCESSING, Female, business

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ac8d5738d0974213fe66a5a3157e4b7
http://europepmc.org/articles/PMC6798745

المؤلفون: Polakit, Teekakirikul, Wenjuan, Zhu, Xinxiu, Xu, Cullen B, Young, Tuantuan, Tan, Amanda M, Smith, Chengdong, Wang, Kevin A, Peterson, George C, Gabriel, Sebastian, Ho, Yi, Sheng, Anne, Moreau de Bellaing, Daniel A, Sonnenberg, Jiuann-Huey, Lin, Elisavet, Fotiou, Gennadiy, Tenin, Michael X, Wang, Yijen L, Wu, Timothy, Feinstein, William, Devine, Honglan, Gou, Abha S, Bais, Benjamin J, Glennon, Maliha, Zahid, Timothy C, Wong, Ferhaan, Ahmad, Michael J, Rynkiewicz, William J, Lehman, Bernard, Keavney, Tero-Pekka, Alastalo, Mary-Louise, Freckmann, Kyle, Orwig, Steve, Murray, Stephanie M, Ware, Hui, Zhao, Brian, Feingold, Cecilia W, Lo

المصدر: Cell reports. Medicine. 3(2)

مصطلحات موضوعية: Talin, Mice, Myofibrils, Microfilament Proteins, Mutation, Animals, Humans, Tropomyosin, Heart Septal Defects, Atrial, Pedigree

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::66a96a8f6f4f6f088b38eefad46ca14e
https://pubmed.ncbi.nlm.nih.gov/35243414

المؤلفون: Gennadiy Tenin, Sebastian Ho, Amanda M. Smith, Abha S. Bais, Xinxiu Xu, Yi Sheng, Tuantuan Tan, William Lehman, Brian Feingold, Kevin A. Peterson, Stephanie M. Ware, Mary-Louise Freckmann, Steve Murray, Anne Moreau de Bellaing, George C. Gabriel, Kyle E. Orwig, Hui Zhao, Ferhaan Ahmad, Cecilia W. Lo, Tero-Pekka Alastalo, Michael J. Rynkiewicz, Elisavet Fotiou, Wenjuan Zhu, Cullen B. Young, Chengdong Wang, Maliha Zahid, Daniel Sonnenberg, Timothy N. Feinstein, Polakit Teekakirikul, Jiuanne-huey Lin, Yijen L. Wu, Timothy C. Wong, Honglan Gou, William A. Devine, Bernard Keavney, Michael X. Wang

المصدر: SSRN Electronic Journal.

مصطلحات موضوعية: Pathogenesis, Genetics, Fetus, Myofibril assembly, Myofilament, Mutation, medicine, TPM1, Biology, Induced pluripotent stem cell, medicine.disease_cause, Embryonic stem cell

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::2a464f780005944c110f13b4ab85d6aa
https://doi.org/10.2139/ssrn.3858980

المؤلفون: Polakit Teekakirikul, Wenjuan Zhu, Xinxiu Xu, Cullen B. Young, Tuantuan Tan, Amanda M. Smith, Chengdong Wang, Kevin A. Peterson, George C. Gabriel, Sebastian Ho, Yi Sheng, Anne Moreau de Bellaing, Daniel A. Sonnenberg, Jiuann-huey Lin, Elisavet Fotiou, Gennadiy Tenin, Michael X. Wang, Yijen L. Wu, Timothy Feinstein, William Devine, Honglan Gou, Abha S. Bais, Benjamin J. Glennon, Maliha Zahid, Timothy C. Wong, Ferhaan Ahmad, Michael J. Rynkiewicz, William J. Lehman, Bernard Keavney, Tero-Pekka Alastalo, Mary-Louise Freckmann, Kyle Orwig, Steve Murray, Stephanie M. Ware, Hui Zhao, Brian Feingold, Cecilia W. Lo

المصدر: Cell Reports Medicine. 3:100501

مصطلحات موضوعية: General Biochemistry, Genetics and Molecular Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::7cfeb432709693b56692bb79ea4fe65e
https://doi.org/10.1016/j.xcrm.2021.100501

المؤلفون: Martin Baron, John O'Sullivan, Elisavet Fotiou, Kathryn E. Hentges, Jeroen Breckpot, Mathieu Bourgey, Barbara J.M. Mulder, Alex V. Postma, William G. Newman, Connie R. Bezzina, Frances A. Bu'Lock, Marc Gewillig, Koenraad Devriendt, Graham Stuart, Heather J. Cordell, Bernard Keavney, David Brook, Robert Eveleigh, Simon G. Williams, Matthieu J. Miossec, James R. Bentham, Mauro Santibanez-Koref, Louise Sutcliffe, Mark Lathrop, Ana Töpf, Donna J. Page, Sally L. Dunwoodie, Richard M. Monaghan, Sanjeev S. Bhaskar, Kerry Setchfield, Guillaume Bourque, David S. Winlaw, Shoumo Bhattacharya, Graeme C.M. Black

المصدر: Young Investigators Award.

مصطلحات موضوعية: business.industry, Cohort, Genetic predisposition, Medicine, Locus (genetics), Bioinformatics, business, medicine.disease, Genome, Gene, Phenotype, Exome sequencing, Tetralogy of Fallot

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::dd97b941c4bba120bf4aed8b79315e29
https://doi.org/10.1136/heartjnl-2019-bcs.226

المؤلفون: Julie Vogt, Steve Jeffery, Cyril Mignot, Stanley G. Rockson, Glen Brice, Iona Jeffery, Michael Snyder, Sahar Mansour, Peter S. Mortimer, Silvia Martin-Almedina, Pia Ostergaard, Kristiana Gordon, Michael A. Simpson, Shin Lin, Giles Atton, Tessa Homfray, Elisavet Fotiou, David C. Rees

المصدر: Nature Communications
Nature Communications, Vol 10, Iss 1, Pp 1-1 (2019)

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Heterozygote, Adolescent, Science, Hydrops Fetalis, Nonsense mutation, Blotting, Western, General Physics and Astronomy, 02 engineering and technology, Biology, Anemia, Hemolytic, Congenital, General Biochemistry, Genetics and Molecular Biology, Ion Channels, Immune hydrops fetalis, Craniofacial Abnormalities, 03 medical and health sciences, Western blot, medicine, Humans, Truncated protein, Lymphedema, lcsh:Science, Author Correction, Child, Genetics, Multidisciplinary, medicine.diagnostic_test, Infant, Newborn, General Chemistry, Sequence Analysis, DNA, 021001 nanoscience & nanotechnology, medicine.disease, 030104 developmental biology, Lymphatic system, Dysplasia, Child, Preschool, Mutation, lcsh:Q, Female, 0210 nano-technology, Lymphangiectasis, Intestinal, Lymphoscintigraphy

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7953b62dd275d30715ad485a247aea2
https://openaccess.sgul.ac.uk/id/eprint/110847/1/s41467-019-09905-4.pdf

المؤلفون: Kathryn E. Hentges, Robert Eveleigh, Mathieu Bourgey, Barbara J.M. Mulder, William G. Newman, Shoumo Bhattacharya, Sally L. Dunwoodie, Frances A. Bu'Lock, Ana Töpf, Richard M. Monaghan, Elisavet Fotiou, Graham Stuart, Simon G. Williams, Marc Gewillig, Connie R. Bezzina, Alex V. Postma, Guillaume Bourque, Kerry Setchfield, G. Mark Lathrop, Koenraad Devriendt, D Winlaw, J. David Brook, Heather J. Cordell, Graeme C.M. Black, James R. Bentham, Bernard Keavney, Mauro Santibanez-Koref, Matthieu J. Miossec, Louise Sutcliffe, Donna J. Page, Sanjeev S. Bhaskar, Martin Baron, John O'Sullivan, Jeroen Breckpot

المساهمون: ACS - Heart failure & arrhythmias, Cardiology, ARD - Amsterdam Reproduction and Development, APH - Personalized Medicine, APH - Aging & Later Life, Human Genetics, Medical Biology, ACS - Pulmonary hypertension & thrombosis

المصدر: Page, D J, Miossec, M J, Williams, S G, Monaghan, R M, Fotiou, E, Cordell, H J, Sutcliffe, L, Topf, A, Bourgey, M, Bourque, G, Eveleigh, R, Dunwoodie, S L, Winlaw, D S, Bhattacharya, S, Breckpot, J, Devriendt, K, Gewillig, M, Brook, J D, Setchfield, K J, Bu'Lock, F A, O'Sullivan, J, Stuart, G, Bezzina, C R, Mulder, B J M, Postma, A V, Bentham, J R, Baron, M, Bhaskar, S S, Black, G C, Newman, W G, Hentges, K E, Lathrop, G M, Santibanez-Koref, M & Keavney, B D 2019, ' Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot ', Circulation research, vol. 124, no. 4, pp. 553-563 . https://doi.org/10.1161/CIRCRESAHA.118.313250, https://doi.org/10.1161/CIRCRESAHA.118.313250
Circulation research, 124(4), 553-563. Lippincott Williams and Wilkins

مصطلحات موضوعية: Physiology, Mutation, Missense, Cell Cycle Proteins, Biology, Autoantigens, Article, whole exome sequencing, Mutation Rate, NOTCH1, Loss of Function Mutation, Genetic variation, medicine, Humans, Exome, Receptor, Notch1, genes, FLT4, Exome sequencing, Tetralogy of Fallot, Homeodomain Proteins, Genetics, heart diseases, Calcium-Binding Proteins, Nuclear Proteins, Vascular Endothelial Growth Factor Receptor-3, medicine.disease, genetic variation, Trans-Activators, Cardiology and Cardiovascular Medicine, Transcription Factors

وصف الملف: Print; text; application/vnd.openxmlformats-officedocument.wordprocessingml.document

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d5ef130c9628a90cd791742dc7a84be5
https://lirias.kuleuven.be/handle/123456789/631749

المؤلفون: Donna Page, Simon Williams, Richard Monaghan, Elisavet Fotiou, Bernard Keavney

المصدر: Monaghan, R 2019, ' 139 Identification of the major genetic contributors to tetralogy of fallot ', Heart . https://doi.org/10.1136/heartjnl-2019-BCS.136

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1846bc515596da5bc0082ee4f846bc12
https://www.research.manchester.ac.uk/portal/en/publications/139-identification-of-the-major-genetic-contributors-to-tetralogy-of-fallot(91376bae-c8a5-483c-9d29-27719a74a054).html

المؤلفون: Elisavet Fotiou, Bernard Keavney

المصدر: ESC CardioMed

مصطلحات موضوعية: Genetics, Etiology, cardiovascular diseases, Biology, Gene

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::71031e8229cdb110e3370598c1287992
https://doi.org/10.1093/med/9780198784906.003.0170

المؤلفون: Donna J. Page, Matthieu J. Miossec, Simon G. Williams, Elisavet Fotiou, Richard M. Monaghan, Heather J. Cordell, Louise Sutcliffe, Ana Topf, Mathieu Bourgey, Guillaume Bourque, Robert Eveleigh, Sally L. Dunwoodie, David S. Winlaw, Shoumo Bhattacharya, Jeroen Breckpot, Koenraad Devriendt, Marc Gewillig, David Brook, Kerry Setchfield, Frances A. Bu’Lock, John O’Sullivan, Graham Stuart, Connie Bezzina, Barbara J.M. Mulder, Alex V. Postma, James R. Bentham, Martin Baron, Sanjeev S. Bhaskar, Graeme C. Black, William G. Newman, Kathryn E. Hentges, Mark Lathrop, Mauro Santibanez-Koref, Bernard D. Keavney

مصطلحات موضوعية: Sanger sequencing, Minor allele frequency, TBX1, Genetics, symbols.namesake, Candidate gene, symbols, Missense mutation, Locus (genetics), Biology, Exome sequencing, Frameshift mutation

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::68be040d4834c06a04efd344c72ccb08

المؤلفون: Bernard Keavney, Gennadiy Tenin, Steven Williams, Donna J. Page, Elisavet Fotiou

المصدر: Cardiovascular Research. 114:S116-S116

مصطلحات موضوعية: Heart disease, Scale (ratio), Physiology, Physiology (medical), Genomic data, medicine, Computational biology, Biology, Cardiology and Cardiovascular Medicine, medicine.disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::744d8cf9c6e07fe4b9a2c76555fa82f1
https://doi.org/10.1093/cvr/cvy060.337

المؤلفون: Simon G. Williams, Elisavet Fotiou, Bernard Keavney

المصدر: Heart. 103:A115.3-A117

مصطلحات موضوعية: Candidate gene, business.industry, dup, Medicine, Computational biology, Copy-number variation, Cardiology and Cardiovascular Medicine, business, Haploinsufficiency, Gene, Exome, Loss function, Exome sequencing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::0334c57a3300fd06d80fb3b00afdb24d
https://doi.org/10.1136/heartjnl-2017-311726.161