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: 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: 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: 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: 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

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
eLife

مصطلحات 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

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

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