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

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. 14(1)

مصطلحات موضوعية: Open Reading Frames, Genome, Genetics, Molecular Medicine, Genetic Variation, Regulatory Sequences, Nucleic Acid, Molecular Biology, Genetics (clinical), Genome-Wide Association Study

وصف الملف: text; spreadsheet; image

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b2557906b71f0a8f845c3d3f6bf7d75Test
https://pubmed.ncbi.nlm.nih.gov/35850704Test

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

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

المؤلفون: Diana Baralle, Jamie M Ellingford, Charles F Rowlands

المصدر: Cells

مصطلحات موضوعية: 0301 basic medicine, Prioritization, RNA splicing, Computer science, In silico, Genomics, Context (language use), Review, Mendelian disease, Machine learning, computer.software_genre, Models, Biological, Machine Learning, 03 medical and health sciences, 0302 clinical medicine, diagnostics, RNA Precursors, Humans, Genetic Predisposition to Disease, splice, genetics, variant prioritization, effect prediction, business.industry, variant interpretation, Computational Biology, Genetic Variation, Molecular Sequence Annotation, General Medicine, bioinformatics, 030104 developmental biology, genomic medicine, Spike (software development), Artificial intelligence, business, computer, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::576ffdcc34bc901bff5ee496f482d4cdTest

المؤلفون: Michael L. Robinson, Letizia Camerota, Emanuela D’Angelo, Brian L. Black, William G. Newman, Eline Overwater, Kevin David Wright, Ingeborg van der Made, Esther E. Creemers, Glenda M. Beaman, Kirk M. McHugh, Rita Genesio, Francesco Brancati, Klaske D. Lichtenbelt, T. Blair Gainous, Elizabeth J. Meijers-Heijboer, Jamie M Ellingford, Silvio Romano, Abeltje M. Polstra, Adrian S. Woolf, Filipa Lopes, Ashley R. Jackson, Vincent M. Christoffels, Alex V. Postma, Arjan C. Houweling

المساهمون: Human Genetics, Medical Biology, ACS - Heart failure & arrhythmias, ACS - Pulmonary hypertension & thrombosis, ARD - Amsterdam Reproduction and Development, Cardiology, Graduate School, Human genetics, ACS - Atherosclerosis & ischemic syndromes, CCA - Cancer biology and immunology, CCA - Cancer Treatment and quality of life, Amsterdam Reproduction & Development (AR&D)

المصدر: Beaman, G, Lopes, F, Ellingford, J, Newman, W, Woolf, A S & et al. 2019, ' Loss-of-function variants in myocardin cause congenital megabladder in humans and mice ', Journal of Clinical Investigation, vol. 129, no. 12, pp. 5374-5380 . https://doi.org/10.1172/JCI128545Test
Journal of clinical investigation, 129(12), 5374-5380. The American Society for Clinical Investigation
Journal of Clinical Investigation, 129(12), 5374-5380. The American Society for Clinical Investigation
Houweling, A C, Beaman, G M, Postma, A V, Blair Gainous, T, Lichtenbelt, K D, Brancati, F, Lopes, F M, Van Der Made, I, Polstra, A M, Robinson, M L, Wright, K D, Ellingford, J M, Jackson, A R, Overwater, E, Genesio, R, Romano, S, Camerota, L, D'Angelo, E, Meijers-Heijboer, E J, Christoffels, V M, McHugh, K M, Black, B L, Newman, W G, Woolf, A S & Creemers, E E 2019, ' Loss-of-function variants in myocardin cause congenital megabladder in humans and mice ', Journal of Clinical Investigation, vol. 129, no. 12, pp. 5374-5380 . https://doi.org/10.1172/JCI128545Test
The Journal of Clinical Investigation

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, Genetic diseases, Molecular genetics, Muscle Biology, Urology, Urinary Bladder, Disease, Biology, Mice, 03 medical and health sciences, Transactivation, 0302 clinical medicine, Gene expression, medicine, Animals, Humans, Loss function, Genetics, Concise Communication, Genetic Variation, Nuclear Proteins, Muscle, Smooth, General Medicine, Phenotype, 030104 developmental biology, Myocardin, Cell culture, 030220 oncology & carcinogenesis, Mutation, Trans-Activators, Female

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

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::41a4fdc3c0110472a56da314a78225b3Test
https://pure.manchester.ac.uk/ws/files/128397791/Houweling_et_al_JCI_accepted_3_Sept_2019.docxTest

المؤلفون: Verity F. Oliver, Katherine van Bysterveldt, Graeme C.M. Black, Nandoun Abeysekera, Stephanie Barton, Jamie M Ellingford, Andrea L Vincent

المصدر: Clinical & Experimental Ophthalmology. 45:901-910

مصطلحات موضوعية: 0301 basic medicine, Sanger sequencing, Genetics, education.field_of_study, medicine.diagnostic_test, business.industry, Population, Disease, medicine.disease, Bioinformatics, DNA sequencing, 03 medical and health sciences, Ophthalmology, symbols.namesake, 030104 developmental biology, 0302 clinical medicine, Genetic variation, Retinitis pigmentosa, 030221 ophthalmology & optometry, medicine, symbols, business, education, Retinal Dystrophies, Genetic testing

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::c9edd904a1b32851e529fcd0d0a3effbTest
https://doi.org/10.1111/ceo.12983Test

المؤلفون: Robert B. Hufnagel, Gavin Arno, Jamie M Ellingford

المصدر: Genes

مصطلحات موضوعية: 0301 basic medicine, Genotype, Population, Gene Expression, Penetrance, 030105 genetics & heredity, Biology, 03 medical and health sciences, chemistry.chemical_compound, Retinal Diseases, parasitic diseases, Genetic variation, Genetics, Humans, education, Genetic Association Studies, Genetics (clinical), education.field_of_study, Genetic Variation, Retinal, respiratory system, Phenotype, Editorial, Genetics, Population, 030104 developmental biology, chemistry, human activities

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::604d83a26f826e034c47bf4dea274aacTest
https://doi.org/10.3390/genes11111274Test

المؤلفون: Andrea L, Vincent, Nandoun, Abeysekera, Katherine A, van Bysterveldt, Verity F, Oliver, Jamie M, Ellingford, Stephanie, Barton, Graeme Cm, Black

المصدر: Clinicalexperimental ophthalmology. 45(9)

مصطلحات موضوعية: Adult, Male, Cyclic Nucleotide Phosphodiesterases, Type 6, DNA Mutational Analysis, Genetic Variation, DNA, Middle Aged, Polynesia, Pedigree, Young Adult, Phenotype, Mutation, Retinal Dystrophies, Humans, Female, Genetic Testing, Prospective Studies, Retinitis Pigmentosa, Aged, Follow-Up Studies, New Zealand

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::d1921e9e6549545c23b075ffd261a074Test
https://pubmed.ncbi.nlm.nih.gov/29271598Test