-
31
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 -
32
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 -
33
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 -
34
المؤلفون: Augusto Rendon, A. Kousathanas, S. E. A. Leigh, D. Kasperaviciute, R. Jackson, J. Pullinger, Richard H. Scott, T. Rahim, Graeme C.M. Black, C. A. Odhams, Simon C Ramsden, A. Siddiq, L. Lahnstein, S. R. Thompson, Huw B. Thomas, Jenny Lord, M. Bleda, M. J. Welland, L. Moutsianas, A. Giess, Jill Clayton-Smith, A. Stuckey, Panagiotis I. Sergouniotis, H. Brittain, K. Sawant, Arianna Tucci, A. Sosinsky, I. U. S. Leong, Nicole Gossan, William G. Newman, Christopher Campbell, Mark J. Caulfield, T. Rogers, Diana Baralle, Andrew G. L. Douglas, A. L. Taylor Tavares, N. Murugaesu, Gavin Arno, S. M. Wood, Louise J. Jones, Robert A. Hirst, Htoo A Wai, A. Hamblin, Glenda M. Beaman, P. O’Donovan, A. Sieghart, F. Maleady-Crowe, S. Henderson, M. Tanguy, Claire Hardcastle, C. R. Boustred, G. C. Chan, M. McEntagart, Beatriz Gomes-Silva, E. Williams, Andrew R. Webster, Ellen R A Thomas, T. Fowler, Christine Patch, Raymond T. O'Keefe, Elizabeth A. Jones, D. Perez-Gil, M. B. Pereira, R. Bevers, F. J. Lopez, Jamie M Ellingford, Kevin Webb, M. Kayikci, S. C. Smith, F. Boardman-Pretty, Charlie Rowlands, K. Witkowsa, P. Arumugam, A. C. Need, Tim Hubbard, J. C. Ambrose, M. Mueller, Christopher O'Callaghan, F. Minneci, K. Savage
المصدر: Scientific Reports
Scientific Reports, Vol 11, Iss 1, Pp 1-11 (2021)مصطلحات موضوعية: Prioritization, Genetic testing, Science, RNA Splicing, In silico, Computational biology, Biology, Article, Diagnosis, Differential, Human disease, Databases, Genetic, Diagnosis, RNA Precursors, Genetics, Humans, Disease, Clinical genetics, Medical diagnosis, Uncertain significance, Diagnostic Techniques and Procedures, Multidisciplinary, Disease genetics, Computational Biology, Genetic Variation, Diagnostic test, Exons, Genomics, Pathogenicity, Mutation, RNA splicing, Medicine, RNA Splice Sites, Algorithms
وصف الملف: text
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ab35c97f0d97111f801af95b74d199eTest
https://doi.org/10.22541/au.160157595.59675486Test -
35
المؤلفون: Panagiotis I. Sergouniotis, Graeme C.M. Black, Nicholas Lench, Simon C Ramsden, Simon C. Lovell, Shalaw R. Sallah, Jamie M Ellingford
المصدر: Sallah, S R, Ellingford, J M, Sergouniotis, P I, Ramsden, S C, Lench, N, Lovell, S C & Black, G C 2021, ' Improving the clinical interpretation of missense variants in X linked genes using structural analysis ', Journal of Medical Genetics . https://doi.org/10.1136/jmedgenet-2020-107404Test
مصطلحات موضوعية: 0301 basic medicine, missense, Computer science, Mutation, Missense, Computational biology, 030105 genetics & heredity, 03 medical and health sciences, X-Linked Genes, Genes, X-Linked, Genetic variation, Genetics, Missense mutation, Humans, Genetics (clinical), clinical decision-making, structural homology, business.industry, Point mutation, Computational Biology, Pathogenicity, Prediction algorithms, 030104 developmental biology, genetic variation, Mutation (genetic algorithm), Personalized medicine, mutation, point mutation, protein, business, Algorithms
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ac61f7e02aa3088923c97ec452f8b3cTest
https://pubmed.ncbi.nlm.nih.gov/33766936Test -
36
المؤلفون: D Stoddard, Graeme C.M. Black, Charles Reynard, D A Gokhale, John H McDermott, Richard Body, Jamie M Ellingford, William G. Newman
المصدر: QJM: An International Journal of Medicine
مصطلحات موضوعية: 2019-20 coronavirus outbreak, Cross Infection, Coronavirus disease 2019 (COVID-19), business.industry, SARS-CoV-2, Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), Point-of-care testing, Pneumonia, Viral, COVID-19, General Medicine, Virology, COVID-19 Testing, Point-of-Care Testing, Pandemic, Commentary, Medicine, Humans, business, Pandemics
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f921579e554c9d546d042d07289e7f32Test
http://europepmc.org/articles/PMC7313876Test -
37
المؤلفون: Christopher Campbell, Graeme C.M. Black, Omamah A. Jiman, Jane Ashworth, Sofia Douzgou, Rachel L. Taylor, Eva Lenassi, Forbes D C Manson, Tracy Fletcher, Stephanie Barton, Jamie M Ellingford, Claire Hardcastle, Simon C Ramsden, Jill Clayton Smith, Susmito Biswas
المصدر: Uk Inherited Retinal Disease Consortium 2020, ' Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease ', European Journal of Human Genetics . https://doi.org/10.1038/s41431-019-0548-5Test
European Journal of Human Geneticsمصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, Genetic testing, Adolescent, Disease, 030105 genetics & heredity, Sensitivity and Specificity, Article, 03 medical and health sciences, chemistry.chemical_compound, Retinal Diseases, Internal medicine, Human Phenotype Ontology, medicine, Genetics, Humans, Genetics(clinical), Child, Exome, Genetics (clinical), Aged, medicine.diagnostic_test, Disease genetics, business.industry, Medical genetics, Genetic variants, High-Throughput Nucleotide Sequencing, Infant, Eye Diseases, Hereditary, Retinal, Sequence Analysis, DNA, Syndrome, Middle Aged, Phenotype, 030104 developmental biology, chemistry, Child, Preschool, Next-generation sequencing, Female, business, Genetic diagnosis
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10dd98c73ac071d9a5d792ad5a994775Test
http://www.scopus.com/inward/record.url?scp=85076856393&partnerID=8YFLogxKTest -
38
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 -
39
المؤلفون: Shalaw R. Sallah, David J. Green, Panagiotis I. Sergouniotis, Simon C. Lovell, Jamie M Ellingford
المصدر: Genes
Volume 11
Issue 2
Green, D J, Sallah, S R, Ellingford, J M, Lovell, S C & Sergouniotis, P I 2020, ' Variability in gene expression is associated with incomplete penetrance in inherited eye disorders ', Genes, vol. 11, no. 2, 179 . https://doi.org/10.3390/genes11020179Test
Genes, Vol 11, Iss 2, p 179 (2020)مصطلحات موضوعية: 0301 basic medicine, Eye Diseases, Gene Expression, Penetrance, Gene mutation, Genome, Transcriptome, 0302 clinical medicine, Genotype, Databases, Genetic, Gene expression, Genetics(clinical), Inherited retinal disease, Mendelian disorders, Genetics (clinical), Skin, Genetics, education.field_of_study, incomplete penetrance, Brain, Inherited eye disease, Blood, Organ Specificity, inherited retinal disease, symbols, lcsh:QH426-470, Population, Biology, Retina, Article, 03 medical and health sciences, symbols.namesake, Retinal Diseases, variable expressivity, Variable expressivity, Humans, Genetic Predisposition to Disease, education, Gene, Incomplete penetrance, Fibroblasts, inherited eye disease, lcsh:Genetics, 030104 developmental biology, Gene Ontology, Gene Expression Regulation, Mendelian inheritance, Eye disorder, 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db8ea5d09a9072175463eb0ba7dff331Test
https://doi.org/10.1101/2020.01.28.915504Test -
40
المؤلفون: William G. Newman, Nicholas Machin, Jamie M Ellingford, Ryan George, Stephen Ball, D A Gokhale, John H McDermott, Graeme C.M. Black, Jonathan J Edgerley, Ahmed S
المصدر: SSRN Electronic Journal.
مصطلحات موضوعية: medicine.medical_specialty, business.industry, Transmission (medicine), Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), Family medicine, Health care, Infection control, Outbreak, Medicine, Health education, Genomics, business, Genome
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::451770e1d96350e4da93b60352d642feTest
https://doi.org/10.2139/ssrn.3734290Test