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, John M. Greally, 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

المصدر: Genome Medicine, Vol 14, Iss 1, Pp 1-19 (2022)

مصطلحات موضوعية: Variant interpretation, Non-coding variation, Gene regulation, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1756-994XTest

الوصول الحر: https://doaj.org/article/592317068741464ab4f2701a8ccc78e4Test

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

المصدر: Genes, Vol 11, Iss 2, p 179 (2020)

مصطلحات موضوعية: inherited eye disease, inherited retinal disease, variable expressivity, incomplete penetrance, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2073-4425/11/2/179Test; https://doaj.org/toc/2073-4425Test

الوصول الحر: https://doaj.org/article/93f1e396c1694f9e85f18862910da17bTest

المؤلفون: Malena Daich Varela, James Bellingham, Fabiana Motta, Neringa Jurkute, Jamie M Ellingford, Mathieu Quinodoz, Kathryn Oprych, Michael Niblock, Lucas Janeschitz-Kriegl, Karolina Kaminska, Francesca Cancellieri, Hendrik P N Scholl, Eva Lenassi, Elena Schiff, Hannah Knight, Graeme Black, Carlo Rivolta, Michael E Cheetham, Michel Michaelides, Omar A Mahroo, Anthony T Moore, Andrew R Webster, Gavin Arno

المصدر: Human molecular genetics, vol 32, iss 4

مصطلحات موضوعية: Patient Care Team, Genetics & Heredity, Whole Genome Sequencing, DNA Mutational Analysis, Human Genome, Membrane Proteins, Nerve Tissue Proteins, General Medicine, Biological Sciences, Medical and Health Sciences, Pedigree, Clinical Research, Mutation, Retinal Dystrophies, Genetics, Humans, 2.1 Biological and endogenous factors, Aetiology, Eye Proteins, Molecular Biology, Genetics (clinical)

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4eecf9b5f20e38556985a642ed4fc37bTest
https://escholarship.org/uc/item/4z14k3r2Test

المؤلفون: D Gareth Evans, Siva Sithambaram, Elke Maria van Veen, George J Burghel, Helene Schlecht, Elaine F Harkness, Helen Byers, Jamie M Ellingford, Ashu Gandhi, Sacha J Howell, Anthony Howell, Claire Forde, Fiona Lalloo, William G Newman, Miriam Jane Smith, Emma Roisin Woodward

المصدر: Evans, D G, Sithambaram, S, van Veen, E M, Burghel, G J, Schlecht, H, Harkness, E, Byers, H J, Ellingford, J, Gandhi, A, Howell, S J, Howell, T, Forde, C, Lalloo, F, Newman, W, Smith, M J & Woodward, E 2022, ' Differential involvement of germline pathogenic variants in breast cancer genes between DCIS and low-grade invasive cancers ', Journal of Medical Genetics . https://doi.org/10.1136/jmg-2022-108790Test

مصطلحات موضوعية: Manchester Cancer Research Centre, ResearchInstitutes_Networks_Beacons/mcrc, Genetics, Genetics (clinical)

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

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::115b11b250e0606d60e9ac5e69e7b595Test
https://research.manchester.ac.uk/en/publications/c94290d8-af40-4cdf-aef9-8aa182ee5e54Test

المؤلفون: Jamie M Ellingford, Jenny Carmichael, Carmel Toomes, Christopher M. Watson, Roel P J Bevers, Colin A. Johnson, James A. Poulter, Matthew Roche, Helen K. Brittain, Gabrielle Wheway, Alex Stuckey, Sunayna Best, Chris F. Inglehearn, Jenny Lord, Katarzyna Szymanska

المصدر: Best, S, Lord, J, Roche, M, Watson, C M, Poulter, J A, Bevers, R P J, Stuckey, A, Szymanska, K, Ellingford, J M, Carmichael, J, Brittain, H, Toomes, C, Inglehearn, C, Johnson, C A & Wheway, G 2021, ' Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project ', Journal of Medical Genetics . https://doi.org/10.1136/jmedgenet-2021-108065Test

مصطلحات موضوعية: Proband, diagnosis, Genomics, Disease, medical, Ciliopathies, State Medicine, Joubert syndrome, Human Phenotype Ontology, genomics, Genetics, Humans, Medicine, genetics, Abnormalities, Multiple, Eye Abnormalities, Genetics (clinical), business.industry, Cilium, congenital, Kidney Diseases, Cystic, medicine.disease, Ciliopathy, Phenotype, and neonatal diseases and abnormalities, business, hereditary

وصف الملف: text

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53ae82c691b2420bcaacf19be4171770Test
https://doi.org/10.1136/jmedgenet-2021-108065Test

المؤلفون: Stephanie L Greville-Haygate, Emma R. Woodward, D. Gareth Evans, Andrew J Wallace, Helen Byers, Jamie M Ellingford, Fiona Lalloo, Anthony Howell, George J Burghel, Sasha J Howell, Miriam J. Smith, Elaine F. Harkness, William G. Newman, Naomi L. Bowers, Elke M van Veen, Diana Eccles, Sarah J Evans, Marta Pereira

المصدر: Journal of Medical Genetics

مصطلحات موضوعية: 0301 basic medicine, Oncology, Adult, medicine.medical_specialty, endocrine system diseases, PALB2, Genes, BRCA2, Genes, BRCA1, human genetics, Breast Neoplasms, Disease, genetic testing, 03 medical and health sciences, 0302 clinical medicine, Breast cancer, Internal medicine, Cancer Genetics, Medicine, Humans, genetics, Age of Onset, Prospective cohort study, skin and connective tissue diseases, CHEK2, Genetics (clinical), Genetic testing, medicine.diagnostic_test, business.industry, DNA, Neoplasm, Sequence Analysis, DNA, Ductal carcinoma, medicine.disease, Genes, p53, Checkpoint Kinase 2, 030104 developmental biology, 030220 oncology & carcinogenesis, Cohort, Mutation, Female, business

وصف الملف: text

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::74b616e4efac02fce2b44a6198f63f53Test
http://europepmc.org/articles/PMC8788257Test

المؤلفون: Jordi Corominas, Laura Whelan, Gwyneth Jane Farrar, Frans P.M. Cremers, Catherina H Z Li, Paul F. Kenna, Susanne Roosing, Carel B. Hoyng, Adrian Dockery, Roly Megaw, Charlie Rowlands, Zeinab Fadaie, L. Ingeborgh van den Born, Christian Gilissen, Jamie M Ellingford, AK Lampe

المصدر: Journal of Medical Genetics, 59, 438-444
Journal of Medical Genetics, 59, 5, pp. 438-444

مصطلحات موضوعية: 0301 basic medicine, Genetics, Proband, BBS1, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Biology, medicine.disease, Compound heterozygosity, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], 03 medical and health sciences, Exon, 030104 developmental biology, 0302 clinical medicine, Retinitis pigmentosa, medicine, Missense mutation, splice, Gene, 030217 neurology & neurosurgery, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2bbe0c9a9179a55b8e5062f89977d11aTest
http://hdl.handle.net/2066/251508Test

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: 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