-
1
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 -
2
المؤلفون: Jamie M Ellingford, Jenny Carmichael, Carmel Toomes, Christopher M. Watson, Roel P J Bevers, Colin A. Johnson, James A. Poulter, Matthew Roche, Helen K. Brittain, Gabrielle Wheway, Alex Stuckey, Sunayna Best, Chris F. Inglehearn, Jenny Lord, Katarzyna Szymanska
المصدر: Best, S, Lord, J, Roche, M, Watson, C M, Poulter, J A, Bevers, R P J, Stuckey, A, Szymanska, K, Ellingford, J M, Carmichael, J, Brittain, H, Toomes, C, Inglehearn, C, Johnson, C A & Wheway, G 2021, ' Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project ', Journal of Medical Genetics . https://doi.org/10.1136/jmedgenet-2021-108065Test
مصطلحات موضوعية: Proband, diagnosis, Genomics, Disease, medical, Ciliopathies, State Medicine, Joubert syndrome, Human Phenotype Ontology, genomics, Genetics, Humans, Medicine, genetics, Abnormalities, Multiple, Eye Abnormalities, Genetics (clinical), business.industry, Cilium, congenital, Kidney Diseases, Cystic, medicine.disease, Ciliopathy, Phenotype, and neonatal diseases and abnormalities, business, hereditary
وصف الملف: text
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53ae82c691b2420bcaacf19be4171770Test
https://doi.org/10.1136/jmedgenet-2021-108065Test -
3
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 -
4
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 -
5
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 -
6
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 16مصطلحات 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 -
7
المؤلفون: Fiona Cunningham, Tracy Fletcher, David R. FitzPatrick, Sarah E. Hunt, Panagiotis I. Sergouniotis, Ana Carvalho, Graeme C.M. Black, Claire Hardcastle, Eva Lenassi, Anja Thormann, Jamie M Ellingford, Simon C Ramsden, Andrew R Webster, Michel Michaelides
مصطلحات موضوعية: Routine testing, business.industry, Medicine, Diagnostic test, Ensembl, Computational biology, Personalized medicine, Prospective cohort study, business, OPHTHALMIC DISORDERS
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::94eafc6ae8ecbbc1a78ebf42a452c702Test
https://doi.org/10.1101/2021.07.23.21261017Test -
8
المؤلفون: George J Burghel, Bronwyn Kerr, Sanjeev S. Bhaskar, John Ealing, Helen Kingston, Claire Kyle, Iain A. Bruce, Helen M. Stuart, Graeme C.M. Black, Algy Taylor, Elizabeth A. Jones, Siddharth Banka, Abigail Rousseau, Suresh Somarathi, D A Gokhale, Emma Burkitt-Wright, Jamie M Ellingford, Laura Dutton, Kate Chandler, Sofia Douzgou, Leslie P Molina-Ramírez, Ronnie Wright, Adele Fairclough, William G. Newman, Tracy A Briggs, Harriet Jackson, Christopher J. Campbell, Jill Clayton-Smith
المصدر: Molina-Ramírez, L P, Kyle, C, Ellingford, J M, Wright, R, Taylor, A, Bhaskar, S S, Campbell, C, Jackson, H, Fairclough, A, Rousseau, A, Burghel, G J, Dutton, L, Banka, S, Briggs, T A, Clayton-Smith, J, Douzgou, S, Jones, E A, Kingston, H M, Kerr, B, Ealing, J, Somarathi, S, Chandler, K E, Stuart, H M, Burkitt-Wright, E M, Newman, W G, Bruce, I A, Black, G C & Gokhale, D 2021, ' Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders ', Journal of Medical Genetics . https://doi.org/10.1136/jmedgenet-2020-107303Test
مصطلحات موضوعية: Proband, Pediatrics, medicine.medical_specialty, Genomics, Workload, medical, 03 medical and health sciences, Rare Diseases, Gene panel, Intellectual disability, Exome Sequencing, Genetics, medicine, genomics, Humans, Exome, genetics, Genetics (clinical), Exome sequencing, 030304 developmental biology, Retrospective Studies, 0303 health sciences, business.industry, 030305 genetics & heredity, medicine.disease, Gene selection, business, Rare disease, early diagnosis
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0067003e93ee1155e5c058f3e4351b47Test
https://pure.manchester.ac.uk/ws/files/194448392/jmedgenet_2020_107303.full.pdfTest -
9
المؤلفون: Nicholas Machin, Jamie M Ellingford, D A Gokhale, Ryan George, Graeme C.M. Black, John H McDermott, William G. Newman, Stephen Ball, Jonathan J Edgerley, Shazaad Ahmad
مصطلحات موضوعية: Transmission (mechanics), business.industry, law, Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), Medicine, business, Virology, law.invention
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::c028991c90f511d8e693d08a20aadc0dTest
https://doi.org/10.7554/elife.65453.sa2Test -
10
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