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

المصدر: Lenassi, E, Clayton-Smith, J, Douzgou, S, Ramsden, S C, Ingram, S, Hall, G, Hardcastle, C L, Fletcher, T A, Taylor, R L, Ellingford, J M, Newman, W D, Fenerty, C, Sharma, V, Lloyd, I C, Biswas, S, Ashworth, J L, Black, G C & Sergouniotis, P I 2020, ' Clinical utility of genetic testing in 201 preschool children with inherited eye disorders ', Genetics in Medicine, vol. 22, no. 4, pp. 745-751 . https://doi.org/10.1038/s41436-019-0722-8Test
Genet Med
Genetics in Medicine

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Pediatrics, clinical utility, albinism, Eye, Article, Cataract, Eye Abnormalities/genetics, 03 medical and health sciences, Dysgenesis, 0302 clinical medicine, Retinal Diseases, Humans, Medicine, Eye Abnormalities, Genetic Testing, Ectopia lentis, Genetics (clinical), Genetic testing, medicine.diagnostic_test, business.industry, Cataract/diagnosis, Infant, Newborn, Correction, Infant, medicine.disease, inherited eye disease, Bilateral Cataracts, 030104 developmental biology, congenital cataract, inherited retinal disease, Child, Preschool, 030221 ophthalmology & optometry, Albinism, Lens disorder, Medical genetics, Eye disorder, Retinal Diseases/diagnosis, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06a85355a32cb8ccea2d93935efba0e5Test
https://doi.org/10.1038/s41436-019-0722-8Test

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: Jamie M Ellingford, Huw B. Thomas, Raymond T. O'Keefe, Glenda M. Beaman, Sofia Douzgou, William G. Newman, Katrina Prescott, Katherine A. Wood, Emma Hobson

المصدر: Newman, W, Wood, K, O'Keefe, R, Ellingford, J, Thomas, H, Douzgou, S, Beaman, G, Hobson, E & Prescott, K 2022, ' Expanding the genotypic spectrum of TXNL4A variants in Burn-McKeown syndrome ', Clinical Genetics, vol. 101, no. 2, pp. 255-259 . https://doi.org/10.1111/cge.14082Test

مصطلحات موضوعية: Heart Defects, Congenital, Spliceosome, Genotype, RNA Splicing, Biology, Deafness, Choanal Atresia, Exon, splicing, Rare Disease, Genetics, Humans, Genetic Predisposition to Disease, Promoter Regions, Genetic, Transcription factor, Genetics (clinical), Alleles, Genetic Association Studies, Ribonucleoprotein, U5 Small Nuclear, Binding Sites, burn mckeown syndrome, TNXL4A, Facies, Promoter, Pedigree, DNA binding site, Phenotype, RNA splicing, Mutation, Female, Trans-acting, Minigene, Protein Binding, Transcription Factors

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d21d6a68dc4a89c7713b820bc8c4feeTest
https://pubmed.ncbi.nlm.nih.gov/34713892Test

المؤلفون: Miriam J. Smith, Anthony Howell, D. Gareth Evans, William G. Newman, Elke M van Veen, Fiona Lalloo, Naomi L. Bowers, Elaine F. Harkness, Emma R. Woodward, Jamie M Ellingford, Sacha J Howell, Andrew J Wallace

المصدر: Cancers
Cancers, Vol 13, Iss 4154, p 4154 (2021)
Evans, D G, Van Veen, E M, Woodward, E R, Harkness, E F, Ellingford, J M, Bowers, N L, Wallace, A J, Howell, S J, Howell, A, Lalloo, F, Newman, W G & Smith, M J 2021, ' Gene Panel Testing for Breast Cancer Reveals Differential Effect of Prior BRCA1/2 Probability ', Cancers, vol. 13, no. 16, pp. 4154 . https://doi.org/10.3390/cancers13164154Test
Volume 13
Issue 16

مصطلحات موضوعية: Oncology, Cancer Research, medicine.medical_specialty, endocrine system diseases, PALB2, CHEK2, Article, panel test, Breast cancer, breast cancer, Internal medicine, Gene panel, medicine, PTEN, skin and connective tissue diseases, RC254-282, biology, business.industry, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, ATM, medicine.disease, BRCA1, BRCA2, biology.protein, Ovarian cancer, business

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::954f277649e7711c77ee462653a046eaTest
http://europepmc.org/articles/PMC8394249Test

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

المصدر: Green, D, Lenassi, E, Manning, C, McGaughey, D, Sharma, V, Black, G, Ellingford, J & Sergouniotis, P 2021, ' North Carolina macular dystrophy: phenotypic variability and computational analysis of disease-associated non-coding variants ', Investigative Ophthalmology and Visual Science., vol. 62, no. 7, pp. 16 . https://doi.org/10.1167/iovs.62.7.16Test
Investigative Ophthalmology & Visual Science

مصطلحات موضوعية: Epigenomics, Male, 0301 basic medicine, Visual acuity, genetic structures, Visual Acuity, gene regulatory network, chemistry.chemical_compound, 0302 clinical medicine, Corneal Dystrophies, Hereditary, Genetics, education.field_of_study, medicine.diagnostic_test, noncoding variation, Middle Aged, Macular dystrophy, transcriptional enhancer, Pedigree, Macular Lesion, Choroidal neovascularization, medicine.anatomical_structure, Child, Preschool, Female, Symptom Assessment, medicine.symptom, Tomography, Optical Coherence, Adolescent, Population, widefield retinal imaging, Biology, Retina, 03 medical and health sciences, north carolina macular dystrophy, medicine, Humans, Genetic Predisposition to Disease, Genetic Testing, Eye Proteins, education, Genetic Association Studies, Genetic testing, Retinal, Histone-Lysine N-Methyltransferase, eye diseases, Ophthalmoscopy, 030104 developmental biology, chemistry, 030221 ophthalmology & optometry, sense organs, Transcription Factors

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a54dab8ec41f28b054fe88c24b8e6790Test
https://research.manchester.ac.uk/en/publications/acbfede1-271d-4c44-984f-463a9fae8f1dTest

المؤلفون: George J Burghel, Bronwyn Kerr, Sanjeev S. Bhaskar, John Ealing, Helen Kingston, Claire Kyle, Iain A. Bruce, Helen M. Stuart, Graeme C.M. Black, Algy Taylor, Elizabeth A. Jones, Siddharth Banka, Abigail Rousseau, Suresh Somarathi, D A Gokhale, Emma Burkitt-Wright, Jamie M Ellingford, Laura Dutton, Kate Chandler, Sofia Douzgou, Leslie P Molina-Ramírez, Ronnie Wright, Adele Fairclough, William G. Newman, Tracy A Briggs, Harriet Jackson, Christopher J. Campbell, Jill Clayton-Smith

المصدر: Molina-Ramírez, L P, Kyle, C, Ellingford, J M, Wright, R, Taylor, A, Bhaskar, S S, Campbell, C, Jackson, H, Fairclough, A, Rousseau, A, Burghel, G J, Dutton, L, Banka, S, Briggs, T A, Clayton-Smith, J, Douzgou, S, Jones, E A, Kingston, H M, Kerr, B, Ealing, J, Somarathi, S, Chandler, K E, Stuart, H M, Burkitt-Wright, E M, Newman, W G, Bruce, I A, Black, G C & Gokhale, D 2021, ' Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders ', Journal of Medical Genetics . https://doi.org/10.1136/jmedgenet-2020-107303Test

مصطلحات موضوعية: Proband, Pediatrics, medicine.medical_specialty, Genomics, Workload, medical, 03 medical and health sciences, Rare Diseases, Gene panel, Intellectual disability, Exome Sequencing, Genetics, medicine, genomics, Humans, Exome, genetics, Genetics (clinical), Exome sequencing, 030304 developmental biology, Retrospective Studies, 0303 health sciences, business.industry, 030305 genetics & heredity, medicine.disease, Gene selection, business, Rare disease, early diagnosis

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0067003e93ee1155e5c058f3e4351b47Test
https://pure.manchester.ac.uk/ws/files/194448392/jmedgenet_2020_107303.full.pdfTest

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: Nicholas Machin, Jamie M Ellingford, D A Gokhale, Ryan George, Graeme C.M. Black, John H McDermott, William G. Newman, Stephen Ball, Jonathan J Edgerley, Shazaad Ahmad

مصطلحات موضوعية: Transmission (mechanics), business.industry, law, Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), Medicine, business, Virology, law.invention

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::c028991c90f511d8e693d08a20aadc0dTest
https://doi.org/10.7554/elife.65453.sa2Test

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