المؤلفون: Yanshan Liu, Siddharth Banka, Yingzhi Huang, Jonathan Hardman-Smart, Derek Pye, Antonio Torrelo, Glenda M. Beaman, Marcelo G. Kazanietz, Martin J Baker, Carlo Ferrazzano, Chenfu Shi, Gisela Orozco, Stephen Eyre, Michel van Geel, Anette Bygum, Judith Fischer, Zosia Miedzybrodzka, Faris Abuzahra, Albert Rübben, Sara Cuvertino, Jamie M. Ellingford, Miriam J. Smith, D. Gareth Evans, Lizelotte J.M.T Weppner-Parren, Maurice A.M. van Steensel, Iskander H. Chaudhary, D. Chas Mangham, John T. Lear, Ralf Paus, Jorge Frank, William G. Newman, Xue Zhang

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::f771ae001418a78ce8b7b617e700c3edTest
https://doi.org/10.1101/2022.02.12.22270762Test

المؤلفون: Jamie M Ellingford, Joo Wook Ahn, Richard D Bagnall, Diana Baralle, Stephanie Barton, Chris Campbell, Kate Downes, Sian Ellard, Celia Duff-Farrier, David R FitzPatrick, Jodie Ingles, Neesha Krishnan, Jenny Lord, Hilary C Martin, William G Newman, Anne O’Donnell-Luria, Simon C Ramsden, Heidi L Rehm, Ebony Richardson, Moriel Singer-Berk, Jenny C Taylor, Maggie Williams, Jordan C Wood, Caroline F Wright, Steven M Harrison, Nicola Whiffin

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::6b7562f7f20b4903ba4c5352fa382d2eTest
https://doi.org/10.1101/2021.12.28.21267792Test

المؤلفون: Nikki-Maria Koudis, Damian Smedley, Mychel Rpt Morais, Jamie M Ellingford, Antony Adamson, David R. Sherwood, Maryline Fresquet, Anna S. Li, Sandhya Srinivasan, Eric Hastie, Ranjay Jayadev, Richard W. Naylor, Rachel Lennon, Emily Williams, Raymond T. O'Keefe, Jack F. Ingham, Helen M. Stuart, Craig Lawless, Huw B. Thomas, Qiuyi Chi, Siddharth Banka

مصطلحات موضوعية: Basement membrane, Network complexity, medicine.anatomical_structure, biology, ADAMTS, medicine, Computational biology, biology.organism_classification, Gene, Genome, Phenotype, Zebrafish, Function (biology)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::5abdb5d7cef4df1add0326719cc4136cTest
https://doi.org/10.1101/2021.10.25.465762Test

المؤلفون: Fiona Cunningham, Tracy Fletcher, David R. FitzPatrick, Sarah E. Hunt, Panagiotis I. Sergouniotis, Ana Carvalho, Graeme C.M. Black, Claire Hardcastle, Eva Lenassi, Anja Thormann, Jamie M Ellingford, Simon C Ramsden, Andrew R Webster, Michel Michaelides

مصطلحات موضوعية: Routine testing, business.industry, Medicine, Diagnostic test, Ensembl, Computational biology, Personalized medicine, Prospective cohort study, business, OPHTHALMIC DISORDERS

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::94eafc6ae8ecbbc1a78ebf42a452c702Test
https://doi.org/10.1101/2021.07.23.21261017Test

المؤلفون: Nicola Whiffin, William G. Newman, Jamie M Ellingford, Gillian I. Rice, Charlie Rowlands, H N Hall, Douglas Agl., Black Gcm., Tracy A Briggs, Algy Taylor, Raymond T. O'Keefe, Simon J. Hubbard, Diana Baralle

مصطلحات موضوعية: symbols.namesake, RNA splicing, Metric (mathematics), Gene expression, Mendelian inheritance, symbols, RNA-Seq, Context (language use), Computational biology, Biology, Gene, Deep sequencing

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::02c16066800d24873124b07be26aeac9Test
https://doi.org/10.1101/2021.03.19.21253973Test

المؤلفون: Vinod Kumar Sharma, David J. Green, Jamie M Ellingford, Graeme C.M. Black, Cerys S Manning, Eva Lenassi, David M. McGaughey, Panagiotis I. Sergouniotis

مصطلحات موضوعية: Genetics, education.field_of_study, Retina, Visual acuity, medicine.diagnostic_test, Population, Retinal, Biology, Phenotype, Macular Lesion, chemistry.chemical_compound, Choroidal neovascularization, medicine.anatomical_structure, chemistry, medicine, medicine.symptom, education, Genetic testing

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::023d96daedd5838265efc5db8785e337Test
https://doi.org/10.1101/2021.03.05.21252975Test

المؤلفون: Shalaw R. Sallah, David J. Green, Panagiotis I. Sergouniotis, Simon C. Lovell, Jamie M Ellingford

المصدر: Genes
Volume 11
Issue 2
Green, D J, Sallah, S R, Ellingford, J M, Lovell, S C & Sergouniotis, P I 2020, ' Variability in gene expression is associated with incomplete penetrance in inherited eye disorders ', Genes, vol. 11, no. 2, 179 . https://doi.org/10.3390/genes11020179Test
Genes, Vol 11, Iss 2, p 179 (2020)

مصطلحات موضوعية: 0301 basic medicine, Eye Diseases, Gene Expression, Penetrance, Gene mutation, Genome, Transcriptome, 0302 clinical medicine, Genotype, Databases, Genetic, Gene expression, Genetics(clinical), Inherited retinal disease, Mendelian disorders, Genetics (clinical), Skin, Genetics, education.field_of_study, incomplete penetrance, Brain, Inherited eye disease, Blood, Organ Specificity, inherited retinal disease, symbols, lcsh:QH426-470, Population, Biology, Retina, Article, 03 medical and health sciences, symbols.namesake, Retinal Diseases, variable expressivity, Variable expressivity, Humans, Genetic Predisposition to Disease, education, Gene, Incomplete penetrance, Fibroblasts, inherited eye disease, lcsh:Genetics, 030104 developmental biology, Gene Ontology, Gene Expression Regulation, Mendelian inheritance, Eye disorder, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db8ea5d09a9072175463eb0ba7dff331Test
https://doi.org/10.1101/2020.01.28.915504Test

المؤلفون: Charlie Rowlands, Simon C Ramsden, Christopher O'Callaghan, Kevin Webb, Graeme C.M. Black, Robert A. Hirst, Beatriz Gomes-Silva, Andrew R. Webster, Gavin Arno, Jamie M Ellingford, Claire Hardcastle, Huw B. Thomas, William G. Newman, Jill Clayton-Smith, Raymond T. O'Keefe, Christopher J. Campbell, Glenda M. Beaman, Elizabeth A. Jones, Nicole Gossan

مصطلحات موضوعية: 0303 health sciences, education.field_of_study, business.industry, In silico, Alternative splicing, Population, Context (language use), Computational biology, Biology, 3. Good health, 03 medical and health sciences, 0302 clinical medicine, RNA splicing, Personalized medicine, business, education, Gene, Allele frequency, 030217 neurology & neurosurgery, 030304 developmental biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::35ca12f81dee89eba6fc8f089a338bd4Test

المؤلفون: Kevin Webb, William G. Newman, Glenda M. Beaman, Christopher O'Callaghan, Graeme C.M. Black, Jamie M Ellingford, Robert A. Hirst

مصطلحات موضوعية: Disease gene, Whole genome sequencing, 0303 health sciences, Genomics, Computational biology, Biology, medicine.disease, Genome, Cystic fibrosis, 3. Good health, 03 medical and health sciences, 0302 clinical medicine, 030220 oncology & carcinogenesis, RNA splicing, medicine, 030304 developmental biology, Primary ciliary dyskinesia

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b85d75274ee24c15c8fd8831814f1879Test

المؤلفون: Jamie M Ellingford, Timothy J. Aitman, Glenda M. Beaman, Miriam J. Smith, Javier Santoyo-Lopez, William G. Newman, Andrew J Wallace, Helen Byers, Fiona Lalloo, D. Gareth Evans, Elke M van Veen, Diana Eccles

مصطلحات موضوعية: endocrine system diseases, Bisulfite sequencing, Methylation, Biology, medicine.disease, Germline, DNA sequencing, CpG site, medicine, Cancer research, Allele, Ovarian cancer, skin and connective tissue diseases, Gene

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3133ccf6f79d3f353859fdb6e0747a7aTest