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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: 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: 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: 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 -
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المؤلفون: David R. FitzPatrick, Graeme C.M. Black, Sarah Waller, Alison M. Meynert, Deirdre E. Donnelly, Jill E. Urquhart, I Chris Lloyd, Jill Clayton-Smith, Gisela Wilcox, Rachel L. Taylor, Jamie M Ellingford, Charu Deshpande, Mark T. Handley, Helen Mundy, Christopher Campbell
المصدر: Taylor, R L, Handley, M T, Waller, S, Campbell, C, Urquhart, J, Meynert, A M, Ellingford, J M, Donnelly, D, Wilcox, G, Lloyd, I C, Mundy, H, FitzPatrick, D R, Deshpande, C, Clayton-Smith, J & Black, G C 2017, ' Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature ', Investigative Ophthalmology & Visual Science, vol. 58, no. 1, pp. 594-603 . https://doi.org/10.1167/iovs.16-21026Test
Investigative ophthalmology & visual science
Taylor, R L, Handley, M T, Waller, S, Campbell, C, Urquhart, J, Meynert, A M, Ellingford, J M, Donnelly, D, Wilcox, G, Lloyd, I C, Mundy, H, FitzPatrick, D R, Deshpande, C, Clayton-Smith, J & Black, G C 2017, ' Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature ', Investigative ophthalmology & visual science, vol. 58, no. 1, pp. 594-603 . https://doi.org/10.1167/iovs.16-21026Testمصطلحات موضوعية: Adult, Male, 0301 basic medicine, Proband, Heterozygote, Time Factors, Adolescent, DNA Copy Number Variations, DNA Mutational Analysis, Very long chain fatty acid, Disease, Biology, Bioinformatics, Short stature, Cataract, Article, Peroxisomal Disorders, Young Adult, 03 medical and health sciences, chemistry.chemical_compound, genomics, medicine, Humans, PEX11B, Copy-number variation, Child, Genetics, peroxisome biogenesis disorder, Membrane Proteins, DNA, Peroxisome, medicine.disease, Phenotype, Pedigree, Developmental disorder, 030104 developmental biology, congenital cataract, chemistry, Child, Preschool, Mutation, Female, next-generation sequencing, medicine.symptom, Follow-Up Studies
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9659220464b7f8498aea1c42ed3f7b5Test
https://hdl.handle.net/20.500.11820/f9b17085-9d01-4e54-9b95-58c2fc318024Test -
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المؤلفون: Rachel L. Taylor, Elisabeth J. Nichol, Sofia Douzgou, Graeme C.M. Black, Georgina Hall, Jill Clayton-Smith, Jiten Morarji, Claire Hardcastle, Jamie M Ellingford, Susmito Biswas, Stephanie Barton, Vinod Sharma, Simon C Ramsden, I Chris Lloyd, Claire M. Delaney, Lindsi C. Williams, Jane Ashworth, Panagiotis I. Sergouniotis, Christopher Campbell, Neil R. A. Parry
المصدر: Ophthalmology. 124(7)
مصطلحات موضوعية: 0301 basic medicine, Male, Pediatrics, medicine.medical_specialty, Adolescent, Disease, 03 medical and health sciences, Retinal Dystrophies, medicine, Humans, Genetic Testing, Medical diagnosis, Child, Eye Proteins, Genetic Association Studies, Genetic testing, Retrospective Studies, medicine.diagnostic_test, business.industry, Autosomal dominant trait, Retrospective cohort study, Pedigree, Ophthalmology, 030104 developmental biology, Phenotype, Molecular Diagnostic Techniques, Cohort, Population study, Pediatric ophthalmology, Female, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6601c8a99759371b96b74869be9566e9Test
https://pubmed.ncbi.nlm.nih.gov/28341476Test -
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المؤلفون: Francis L. Munier, Georgia G. Yioti, Carel B. Hoyng, Pietro Farinelli, Sara Balzano, Jamie M Ellingford, Viet H. Tran, Olivier Bonny, Christos Ikonomidis, Sten Andréasson, Veronika Vaclavik, Chris F. Inglehearn, Nicola Bedoni, Lonneke Haer-Wigman, Daniel F. Schorderet, Maria Stefaniotou, Fabien Murisier, Adam P. Booth, Mohammed E El-Asrag, Carlo Rivolta, Konstantinos Nikopoulos, Nathalie M. Bax, Yan Litzistorf, Frans P.M. Cremers, Carmel Toomes, Beryl Royer-Bertrand, Graeme C.M. Black, Caroline C W Klaver, Martin McKibbin, Manir Ali, Alberta A H J Thiadens
المساهمون: Ophthalmology
المصدر: Human Molecular Genetics, 25, 4546-4555
Scopus-Elsevier
Human Molecular Genetics, 25(20), 4546-4555. Oxford University Press
Human molecular genetics, vol. 25, no. 20, pp. 4546-4555
Human Molecular Genetics, 25, 20, pp. 4546-4555مصطلحات موضوعية: 0301 basic medicine, Retinal degeneration, Male, DNA Mutational Analysis, Gene Expression, medicine.disease_cause, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Mice, 0302 clinical medicine, Testis, Genetics (clinical), Genetics, Mutation, Homozygote, Genetic disorder, General Medicine, Middle Aged, Spermatozoa, Pedigree, medicine.anatomical_structure, Organ Specificity, Sperm Motility, Female, Photoreceptor Cells, Vertebrate, Gene isoform, Adult, Adolescent, Biology, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, medicine, Animals, Humans, Allele, Eye Proteins, Molecular Biology, Gene, Infertility, Male, Aged, Retina, Dystrophy, medicine.disease, Molecular biology, Rats, Disease Models, Animal, 030104 developmental biology, Carrier Proteins, 030217 neurology & neurosurgery, Cone-Rod Dystrophies
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86735e0d0550260dadf7eb91ef7e54b7Test
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المؤلفون: Panagiotis I. Sergouniotis, Cecilia Fenerty, Graeme C.M. Black, James O'Sullivan, Jamie M Ellingford
المصدر: Acta Ophthalmologica. 95:e249-e250
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Adolescent, Genotype, Glaucoma, Biology, DNA sequencing, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Pupil Disorders, medicine, Humans, Point Mutation, Genetic Testing, Child, Eye Proteins, Genetics, Chromosomes, Human, Pair 13, General Medicine, Microcoria, medicine.disease, Pedigree, Ophthalmology, 030104 developmental biology, 030221 ophthalmology & optometry, Female
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1577979856176d2044cc6e34b6f25422Test
https://doi.org/10.1111/aos.13246Test