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المؤلفون: Gill Wilson, Anna de Burca, Marta Bleda, Lucy R. Wedderburn, Matthew Welland, Kathleen Stirrups, Valentina Cipriani, Kerrie Woods, Vijeya Ganesan, Susan Hill, Rosaline Quinlivan, Georgia Chan, Mehul T. Dattani, Robert McFarland, Graeme C.M. Black, Rutendo Mapeta, Augusto Rendon, Francesco Muntoni, James O.J. Davies, Mina Ryten, Rebecca E. Foulger, Arianna Tucci, Dina Halai, Tom Fowler, Noemi B.A. Roy, Sarah Leigh, Dragana Josifova, Philip Twiss, Ana L.T. Tavares, Zerin Hyder, Detlef Bockenhauer, Patrick Yu-Wai-Man, Lara Abulhoul, Nikolas Pontikos, Anthony T. Moore, Huw R. Morris, Patrick F. Chinnery, Nicholas W. Wood, Ellen A. Thomas, Shehla Mohammed, Sofia Douzgou, Tanya Lam, Kate Gibson, Robert Sarkany, Teofila Bueser, Wei Wei, Siddharth Banka, Alexander Broomfield, Hiva Fassihi, Nils Koelling, Carolyn Campbell, James Buchanan, Melita Irving, Sandrine Compeyrot-Lacassagne, Karola Rehmström, Austen Worth, Nikhil Thapar, Andrew R. Webster, Paul Brennan, Rita Horvath, Gavin Arno, Richard H Scott, Sam Malka, Andrew O.M. Wilkie, Sofie Ashford, Maria Bitner-Glindzicz, Jana Vandrovcova, William G. Newman, Caroline F. Wright, Andrew M. Schaefer, Roger F.L. James, Robert W. Taylor, Melanie Babcock, Arjune Sen, Emma Baple, Ellen M. McDonagh, Stephanie Grunewald, Loukas Moutsianas, Melissa A. Haendel, Olivera Spasic-Boskovic, Eleanor G. Seaby, Anna Need, Clarissa Pilkington, Sarah Wordsworth, Shamima Rahman, Christine Patch, Colin Wallis, Kristina Ibanez, Bishoy Habib, Eik Haraldsdottir, Huw B. Thomas, Razvan Sultana, Andrea H. Németh, Agata Wolejko, Claire Palles, Phil Beales, Adam C. Shaw, Letizia Vestito, Emily Li, Sarah Rose, Sarah Hunter, Angela Matchan, Genevieve Say, Dalia Kasperaviciute, Henry Houlden, Raymond T. O’Keefe, R. Andres Floto, Jill Clayton-Smith, John B. Taylor, Hywel J. Williams, Volker Straub, Val Davison, Helen Savage, John Chisholm, Eleanor Dewhurst, Charles Crichton, Andrea Haworth, Clare Turnbull, Carolyn Tregidgo, Carme Camps, Christopher Penkett, Emer O’Connor, Georgina Hall, Lyn S. Chitty, Sally Halsall, Andrew D. Mumford, Annette G. Wagner, Eleanor Williams, Mark Bale, Julius O. Jacobsen, Willem H. Ouwehand, Charu Deshpande, Gavin Burns, Smita Y. Patel, James Polke, Thiloka Ratnaike, Gavin Fuller, John Burn, Kenneth E. S. Poole, Emma Footitt, John R. Bradley, Suzanne Wood, Russell J. Grocock, Jenny C. Taylor, Louise Izatt, Kikkeri N. Naresh, Katherine R. Smith, Nigel Burrows, Katrina Newland, Peter N. Robinson, Sarju G. Mehta, Michael A. Simpson, Michael R. Barnes, Pilar Cacheiro, Olivia Niblock, Tracy Lester, Dimitris Polychronopoulos, Helen Brittain, John A. Sayer, Antonio Martin, Eshika Haque, Sean Humphray, Douglass M. Turnbull, Damian Smedley, Andrew Devereau, Stefan Gräf, Sian Ellard, Ivone U.S. Leong, Martin G. Reese, Matthias Wielscher, Louise C. Daugherty, Perry M. Elliott, F. Lucy Raymond, Cecilia Compton, David Bentley, Catherine Snow, James Welch, Frances Flinter, Dom McMullan, Mark J. Caulfield, Paul Aurora, Mark Gurnell, Mary Kasanicki, I. Karen Temple, Michel Michaelides, Deborah Ruddy, Leema Robert, Janice Yip, Grainne S. Gorman, Andrew C. Browning, Richard Quinton, Maureen Cleary, Jamie M. Ellingford, Angela Douglas, Christopher Boustred
المساهمون: Investigators, The 100,000 Genomes Project Pilot
المصدر: Mumford, A D 2021, ' 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care-Preliminary Report ', New England Journal of Medicine, vol. 385, no. 20, pp. 1868-1880 . https://doi.org/10.1056/NEJMoa2035790Test
مصطلحات موضوعية: Adult, Male, Proband, medicine.medical_specialty, Adolescent, Pilot Projects, Genomics, Polymerase Chain Reaction, Genome, State Medicine, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Health care, Human Phenotype Ontology, Humans, Medicine, Child, Exome sequencing, 030304 developmental biology, Family Characteristics, 0303 health sciences, Whole Genome Sequencing, Genome, Human, business.industry, Genetic Variation, Rare Diseases/diagnosis, General Medicine, Middle Aged, United Kingdom, 3. Good health, Child, Preschool, Family medicine, Medical genetics, Female, business, Bristol, 030217 neurology & neurosurgery, Rare disease
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::07e7a9cb72d07e6534b79e777083f769Test
https://doi.org/10.1056/nejmoa2035790Test -
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المؤلفون: Elaine F. Harkness, Sacha J Howell, Fiona Lalloo, Jamie M Ellingford, Miriam J. Smith, Anthony Howell, D. Gareth Evans, Helene Schlech, William G. Newman, George J Burghel, Claire Forde, Helen Byers, Naomi L. Bowers, Elke M van Veen, Emma R. Woodward, Andrew J Wallace
المصدر: Genetics in Medicine
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, PALB2, Breast Neoplasms, Gastroenterology, Article, 03 medical and health sciences, 0302 clinical medicine, Breast cancer, Internal medicine, medicine, Odds Ratio, Humans, In patient, Genetic Predisposition to Disease, skin and connective tissue diseases, CHEK2, Triple negative, Genetics (clinical), Ovarian Neoplasms, business.industry, Carcinoma in situ, Odds ratio, medicine.disease, Checkpoint Kinase 2, 030104 developmental biology, 030220 oncology & carcinogenesis, Female, Ovarian cancer, business, Fanconi Anemia Complementation Group N Protein
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d4a309359b3044ffd86032ea1ad2295Test
http://europepmc.org/articles/PMC8486655Test -
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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 -
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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. 438-444مصطلحات 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 -
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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 Medicineمصطلحات 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 -
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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 Scienceمصطلحات 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 -
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المؤلفون: Ryan George, William G. Newman, D A Gokhale, Jamie M Ellingford, Graeme C.M. Black, Jonathan J Edgerley, Nicholas Machin, Stephen Ball, John H McDermott, Shazaad Ahmad
المصدر: eLife, Vol 10 (2021)
Ellingford, J M, George, R, Mcdermott, J H, Ahmad, S, Edgerley, J J, Gokhale, D, Newman, W G, Ball, S, Machin, N & Black, G C 2021, ' Genomic and healthcare dynamics of nosocomial SARS-CoV-2 transmission ', eLife, vol. 10, e65453 . https://doi.org/10.7554/eLife.65453Test
eLifeمصطلحات موضوعية: 0301 basic medicine, Male, viruses, Genome, law.invention, Infectious Disease Transmission, Professional-to-Patient, 0302 clinical medicine, law, Infection control, 030212 general & internal medicine, Biology (General), Cross Infection, Microbiology and Infectious Disease, General Neuroscience, virus diseases, General Medicine, sequencing, Virus, Transmission (mechanics), Medicine, Female, Research Article, Human, Infectious Disease Transmission, Patient-to-Professional, QH301-705.5, Health Personnel, Science, Genomics, Computational biology, Biology, healthcare-associated, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, healthcare worker, Humans, genome, Aged, Whole genome sequencing, General Immunology and Microbiology, Whole Genome Sequencing, SARS-CoV-2, fungi, Outbreak, COVID-19, Genetics and Genomics, nosocomial, 030104 developmental biology, Infectious disease (medical specialty), Contact Tracing, Contact tracing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::243397b5ae5821059695f61572817803Test
https://elifesciences.org/articles/65453Test -
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المؤلفون: D. Gareth Evans, Miriam J. Smith, Elke M van Veen, William G. Newman, Emma R. Woodward, Anthony Howell, Jamie M Ellingford, Naomi L. Bowers, Andrew J Wallace, Elaine F. Harkness, Helen Byers, Sacha J Howell, Fiona Lalloo
المصدر: Familial cancer. 21(2)
مصطلحات موضوعية: 0301 basic medicine, Oncology, Cancer Research, medicine.medical_specialty, PALB2, Genes, BRCA2, Breast Neoplasms, CDH1, 03 medical and health sciences, 0302 clinical medicine, Breast cancer, Internal medicine, Epidemiology, Genetics, medicine, PTEN, Humans, Genetic Predisposition to Disease, Genetic Testing, CHEK2, Genetics (clinical), Germ-Line Mutation, Genetic testing, medicine.diagnostic_test, biology, business.industry, Odds ratio, medicine.disease, 030104 developmental biology, 030220 oncology & carcinogenesis, biology.protein, Female, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e9dd8915ceec95e1abaa6bd4b07ba48Test
https://pubmed.ncbi.nlm.nih.gov/33763779Test -
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المؤلفون: Stefan Meyer, Rachel Dixon, Robert F Wynn, Andrew M Will, Denise Bonney, Jamie M Ellingford, Bronwyn Kerr, Ben Adams, Nicholas Telford, Graeme C.M. Black, Jill E. Urquhart
المصدر: Cancer genetics.
مصطلحات موضوعية: Adult, Male, Cancer Research, Pediatrics, medicine.medical_specialty, Adolescent, Penetrance, Biology, Trisomy 8, 03 medical and health sciences, 0302 clinical medicine, Fatal Outcome, hemic and lymphatic diseases, Genetics, medicine, Humans, Family history, Sibling, Child, Molecular Biology, Genetic testing, Chromosome 7 (human), GATA2 Deficiency, medicine.diagnostic_test, Base Sequence, Siblings, medicine.disease, Pedigree, Transplantation, GATA2 Transcription Factor, Leukemia, Myeloid, 030220 oncology & carcinogenesis, Cytogenetic Analysis, Female
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64bdf34d157840c1abd638966169323eTest
https://pubmed.ncbi.nlm.nih.gov/33957466Test -
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المؤلفون: Iain A. Bruce, Panagiotis I. Sergouniotis, Eva Lenassi, Graeme C.M. Black, Simon C Ramsden, Leslie P Molina-Ramírez, Jamie M Ellingford
المصدر: Molina Ramirez, L, Lenassi, E, Ellingford, J, Sergouniotis, P, Ramsden, S, Bruce, I & Black, G 2020, ' Establishing genotype-phenotype correlation in USH2A-related disorders to personalise audiological surveillance and rehabilitation. ', Otology and Neurotology, vol. 41, no. 4, pp. 431-437 . https://doi.org/10.1097/MAO.0000000000002588Test
مصطلحات موضوعية: Adult, medicine.medical_specialty, Genotype, Hearing loss, medicine.medical_treatment, Usher syndrome, Disease, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, otorhinolaryngologic diseases, medicine, Humans, Allele, 030223 otorhinolaryngology, Genetic Association Studies, Genetic testing, Extracellular Matrix Proteins, Rehabilitation, medicine.diagnostic_test, Genetic heterogeneity, business.industry, medicine.disease, Personalized medicine, Sensory Systems, Retinitis pigmentosa, Otorhinolaryngology, Mutation, Sensorineural hearing loss, Neurology (clinical), USH2A -related disease, medicine.symptom, business, Usher Syndromes, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d490f4016416544bb265296bc7ddc011Test
https://pubmed.ncbi.nlm.nih.gov/32176120Test