نتائج البحث - "Jamie M. Ellingford"

41

Machine Learning Approaches for the Prioritization of Genomic Variants Impacting Pre-mRNA Splicing

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

42

Functional and in-silico interrogation of rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders

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

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

43

Loss-of-function variants in myocardin cause congenital megabladder in humans and mice

المساهمون: Human Genetics, Medical Biology, ACS - Heart failure & arrhythmias, ACS - Pulmonary hypertension & thrombosis, ARD - Amsterdam Reproduction and Development, Cardiology, Graduate School, Human genetics, ACS - Atherosclerosis & ischemic syndromes, CCA - Cancer biology and immunology, CCA - Cancer Treatment and quality of life, Amsterdam Reproduction & Development (AR&D)

المصدر: Beaman, G, Lopes, F, Ellingford, J, Newman, W, Woolf, A S & et al. 2019, ' Loss-of-function variants in myocardin cause congenital megabladder in humans and mice ', Journal of Clinical Investigation, vol. 129, no. 12, pp. 5374-5380 . https://doi.org/10.1172/JCI128545Test
Journal of clinical investigation, 129(12), 5374-5380. The American Society for Clinical Investigation
Journal of Clinical Investigation, 129(12), 5374-5380. The American Society for Clinical Investigation
Houweling, A C, Beaman, G M, Postma, A V, Blair Gainous, T, Lichtenbelt, K D, Brancati, F, Lopes, F M, Van Der Made, I, Polstra, A M, Robinson, M L, Wright, K D, Ellingford, J M, Jackson, A R, Overwater, E, Genesio, R, Romano, S, Camerota, L, D'Angelo, E, Meijers-Heijboer, E J, Christoffels, V M, McHugh, K M, Black, B L, Newman, W G, Woolf, A S & Creemers, E E 2019, ' Loss-of-function variants in myocardin cause congenital megabladder in humans and mice ', Journal of Clinical Investigation, vol. 129, no. 12, pp. 5374-5380 . https://doi.org/10.1172/JCI128545Test
The Journal of Clinical Investigation

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

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::41a4fdc3c0110472a56da314a78225b3Test
https://pure.manchester.ac.uk/ws/files/128397791/Houweling_et_al_JCI_accepted_3_Sept_2019.docxTest

44

Correction: Clinical utility of genetic testing in 201 preschool children with inherited eye disorders

المؤلفون: Panagiotis I. Sergouniotis, I Chris Lloyd, Claire Hardcastle, Georgina Hall, Susmito Biswas, Rachel L. Taylor, Jane Ashworth, Stuart Ingram, Vinod Kumar Sharma, Eva Lenassi, Tracy Fletcher, Jill Clayton-Smith, William D Newman, Sofia Douzgou, Cecilia Fenerty, Graeme C.M. Black, Simon C Ramsden, Jamie M Ellingford

المصدر: Genetics in Medicine. 23:2023

مصطلحات موضوعية: Text mining, medicine.diagnostic_test, business.industry, medicine, Eye disorder, business, Genetics (clinical), Genetic testing, Clinical psychology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::48d0e435b5e8ae8846dd1f7d52034bb7Test
https://doi.org/10.1038/s41436-020-01068-8Test

45

Next-generation sequencing targeted disease panel in rod-cone retinal dystrophies in Māori and Polynesian reveals novel changes and a common founder mutation

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

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

46

Using an integrative machine learning approach utilising homology modelling to clinically interpret genetic variants: CACNA1F as an exemplar

المؤلفون: Shalaw R. Sallah, Simon C Ramsden, Graeme C.M. Black, Panagiotis I. Sergouniotis, Mitra Kabir, Stephanie Barton, Nicholas Lench, Simon C. Lovell, Jamie M Ellingford, Amro Safadi, Rachel L. Taylor

المصدر: European Journal of Human Genetics
Sallah, S R, Sergouniotis, P I, Barton, S, Ramsden, S, Taylor, R L, Safadi, A, Kabir, M, Ellingford, J M, Lench, N, Lovell, S C & Black, G C M 2020, ' Using an integrative machine learning approach utilising homology modelling to clinically interpret genetic variants : CACNA1F as an exemplar ', European Journal of Human Genetics, vol. 28, no. 9, pp. 1274-1282 . https://doi.org/10.1038/s41431-020-0623-yTest

مصطلحات موضوعية: Genetic testing, Calcium Channels, L-Type, Computer science, In silico, Computational biology, Homology (biology), DNA sequencing, Article, Machine Learning, 03 medical and health sciences, 0302 clinical medicine, Genetics, Animals, Humans, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Receiver operating characteristic, Calcium Channels, L-Type/chemistry, Sequence Alignment/methods, Genetic variants, Sequence Analysis, DNA, Incomplete congenital stationary night blindness, Pathogenicity, Sequence Analysis, DNA/methods, Structural Homology, Protein, Mutation, Precision and recall, Genetic databases, Sequence Alignment, Genetic Testing/methods, 030217 neurology & neurosurgery