المؤلفون: Charlie F Rowlands, Diana Baralle, Jamie M Ellingford

المصدر: Cells; Volume 8; Issue 12; Pages: 1513

مصطلحات موضوعية: Mendelian disease, diagnostics, variant interpretation, variant prioritization, RNA splicing, bioinformatics, machine learning, genomic medicine, effect prediction

وصف الملف: application/pdf

العلاقة: https://dx.doi.org/10.3390/cells8121513Test

الإتاحة: https://doi.org/10.3390/cells8121513Test

المؤلفون: Diana Baralle, Jamie M Ellingford, Charles F Rowlands

المصدر: Cells

مصطلحات موضوعية: 0301 basic medicine, Prioritization, RNA splicing, Computer science, In silico, Genomics, Context (language use), Review, Mendelian disease, Machine learning, computer.software_genre, Models, Biological, Machine Learning, 03 medical and health sciences, 0302 clinical medicine, diagnostics, RNA Precursors, Humans, Genetic Predisposition to Disease, splice, genetics, variant prioritization, effect prediction, business.industry, variant interpretation, Computational Biology, Genetic Variation, Molecular Sequence Annotation, General Medicine, bioinformatics, 030104 developmental biology, genomic medicine, Spike (software development), Artificial intelligence, business, computer, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::576ffdcc34bc901bff5ee496f482d4cdTest

المؤلفون: Verity F. Oliver, Katherine van Bysterveldt, Graeme C.M. Black, Nandoun Abeysekera, Stephanie Barton, Jamie M Ellingford, Andrea L Vincent

المصدر: Clinical & Experimental Ophthalmology. 45:901-910

مصطلحات موضوعية: 0301 basic medicine, Sanger sequencing, Genetics, education.field_of_study, medicine.diagnostic_test, business.industry, Population, Disease, medicine.disease, Bioinformatics, DNA sequencing, 03 medical and health sciences, Ophthalmology, symbols.namesake, 030104 developmental biology, 0302 clinical medicine, Genetic variation, Retinitis pigmentosa, 030221 ophthalmology & optometry, medicine, symbols, business, education, Retinal Dystrophies, Genetic testing

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::c9edd904a1b32851e529fcd0d0a3effbTest
https://doi.org/10.1111/ceo.12983Test

المؤلفون: David R. FitzPatrick, Graeme C.M. Black, Sarah Waller, Alison M. Meynert, Deirdre E. Donnelly, Jill E. Urquhart, I Chris Lloyd, Jill Clayton-Smith, Gisela Wilcox, Rachel L. Taylor, Jamie M Ellingford, Charu Deshpande, Mark T. Handley, Helen Mundy, Christopher Campbell

المصدر: Taylor, R L, Handley, M T, Waller, S, Campbell, C, Urquhart, J, Meynert, A M, Ellingford, J M, Donnelly, D, Wilcox, G, Lloyd, I C, Mundy, H, FitzPatrick, D R, Deshpande, C, Clayton-Smith, J & Black, G C 2017, ' Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature ', Investigative Ophthalmology & Visual Science, vol. 58, no. 1, pp. 594-603 . https://doi.org/10.1167/iovs.16-21026Test
Investigative ophthalmology & visual science
Taylor, R L, Handley, M T, Waller, S, Campbell, C, Urquhart, J, Meynert, A M, Ellingford, J M, Donnelly, D, Wilcox, G, Lloyd, I C, Mundy, H, FitzPatrick, D R, Deshpande, C, Clayton-Smith, J & Black, G C 2017, ' Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature ', Investigative ophthalmology & visual science, vol. 58, no. 1, pp. 594-603 . https://doi.org/10.1167/iovs.16-21026Test

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Proband, Heterozygote, Time Factors, Adolescent, DNA Copy Number Variations, DNA Mutational Analysis, Very long chain fatty acid, Disease, Biology, Bioinformatics, Short stature, Cataract, Article, Peroxisomal Disorders, Young Adult, 03 medical and health sciences, chemistry.chemical_compound, genomics, medicine, Humans, PEX11B, Copy-number variation, Child, Genetics, peroxisome biogenesis disorder, Membrane Proteins, DNA, Peroxisome, medicine.disease, Phenotype, Pedigree, Developmental disorder, 030104 developmental biology, congenital cataract, chemistry, Child, Preschool, Mutation, Female, next-generation sequencing, medicine.symptom, Follow-Up Studies

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9659220464b7f8498aea1c42ed3f7b5Test
https://hdl.handle.net/20.500.11820/f9b17085-9d01-4e54-9b95-58c2fc318024Test

المؤلفون: Rachel L. Taylor, Binay Panda, William G. Newman, Michel Michaelides, Saurabh Gupta, Stephanie Barton, Sanjeev S. Bhaskar, Simon C Ramsden, Panagiotis I. Sergouniotis, Graeme C.M. Black, Christopher Campbell, Andrew R. Webster, Janine A. Lamb, Bradley Horn, Jamie M Ellingford

المصدر: Ellingford, J, Campbell, C, Barton, S, Bhaskar, S, Gupta, S, Taylor, R, Sergouniotis, P I, Horn, B, Lamb, J, Michaelides, M, Webster, A R, Newman, W, Panda, B, Ramsden, S & Black, G 2017, ' Validation of copy number variation analysis for next-generation sequencing diagnostics ', European Journal of Human Genetics, vol. 25, pp. 719-724 . https://doi.org/10.1038/ejhg.2017.42Test

مصطلحات موضوعية: 0301 basic medicine, DNA Copy Number Variations, Context (language use), Computational biology, Disease, Biology, Bioinformatics, Sensitivity and Specificity, Article, DNA sequencing, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Genetics, Humans, Exome, Genetic Testing, Copy-number variation, Medical diagnosis, Mendelian disorders, Genetics (clinical), High-Throughput Nucleotide Sequencing, Reproducibility of Results, Sequence Analysis, DNA, 030104 developmental biology, 030220 oncology & carcinogenesis, Mendelian inheritance, symbols

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::734802851fa481b138c0494a23e882bdTest
https://pure.manchester.ac.uk/ws/files/51789007/Ellingford_et_al_accepted.pdfTest

المؤلفون: Jamie M, Ellingford, Stephanie, Barton, Sanjeev, Bhaskar, James, O'Sullivan, Simon G, Williams, Janine A, Lamb, Binay, Panda, Panagiotis I, Sergouniotis, Rachel L, Gillespie, Stephen P, Daiger, Georgina, Hall, Theodora, Gale, I Christopher, Lloyd, Paul N, Bishop, Simon C, Ramsden, Graeme C M, Black

المصدر: Journal of Medical Genetics

مصطلحات موضوعية: retinitis pigmentosa, parasitic diseases, Genotype-Phenotype Correlations, next-generation sequencing, Molecular genetics, bioinformatics, inherited retinal dystrophy

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::d0c629df9fc5ab51beb99c3f85212433Test
https://pubmed.ncbi.nlm.nih.gov/27208204Test