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: Judith Hayward, Val Davison, Imran Rafi, Michelle Bishop

المصدر: British Journal of General Practice. 67:58-59

مصطلحات موضوعية: Genomics, Disease, Gene mutation, Bioinformatics, Genome, 03 medical and health sciences, Rare Diseases, 0302 clinical medicine, Breast cancer, Neoplasms, medicine, Humans, Genetic Predisposition to Disease, Genetic Testing, 030212 general & internal medicine, Primary Health Care, business.industry, Editorials, Cancer, Genomic signature, Precision medicine, medicine.disease, United Kingdom, 030220 oncology & carcinogenesis, Family Practice, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8574d134e18cac1f674b3fe7d7b3f04dTest
https://doi.org/10.3399/bjgp17x688945Test

المؤلفون: Dominic J. McMullan, Jenny Elizabeth Morton, Chirag Patel, Judith M. Walker, Lisa Cooper-Charles, Val Davison

المصدر: European Journal of Human Genetics. 19:634-639

مصطلحات موضوعية: Male, Candidate gene, Tics, Apraxias, Cystic Fibrosis Transmembrane Conductance Regulator, Translocation Breakpoint, Biology, Tourette syndrome, Article, Translocation, Genetic, Chromosome Breakpoints, Exon, Gene mapping, Endopeptidases, Genetics, medicine, Humans, In Situ Hybridization, Fluorescence, Genetics (clinical), Oligonucleotide Array Sequence Analysis, Sequence Deletion, Comparative Genomic Hybridization, Breakpoint, Forkhead Transcription Factors, FOXP2, DNA, Exons, medicine.disease, Pedigree, Chromosomes, Human, Pair 7, Tourette Syndrome

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd52f5af9826a5f282229c011e8a9c7eTest
https://doi.org/10.1038/ejhg.2010.238Test

المؤلفون: Richard M. Barber, Cyril Chapman, Fatimah Rahman, Salwati Shuib, Farida Latif, Val Davison, Malgosia Zatyka, Dominic J. McMullan, Eleanor Rattenberry, Eamonn R. Maher, Fiona Macdonald

المصدر: American Journal of Medical Genetics Part A. :2099-2105

مصطلحات موضوعية: Heart Defects, Congenital, Candidate gene, Genotype, Microarray, Gene Dosage, Telecanthus, Biology, Bioinformatics, Polymorphism, Single Nucleotide, Gene mapping, Intellectual Disability, Genetics, medicine, Humans, SNP, Child, Genetics (clinical), Oligonucleotide Array Sequence Analysis, Psychomotor retardation, Gene Expression Profiling, GTPase-Activating Proteins, Syndrome, Penetrance, Phenotype, Chromosome 3, Chromosomes, Human, Pair 3, Chromosome Deletion, medicine.symptom

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b8a3f430104592a7dc748a726acaf3c3Test
https://doi.org/10.1002/ajmg.a.32824Test

المؤلفون: Kim Smith, Samantha J. L. Knight, Edward Blair, Eddy Maher, Jenny C. Taylor, Regina Regan, Sara Dyer, James M. Buchanan, Carolyn Campbell, Sarah Wordsworth, Val Davison

المصدر: Genomic Medicine

مصطلحات موضوعية: medicine.medical_specialty, Cost effectiveness, Microarrays, MEDLINE, Comparative genomic hybridisation, Context (language use), Bioinformatics, 03 medical and health sciences, medicine, Genetics, Genetics(clinical), Medical diagnosis, Intensive care medicine, Genetics (clinical), Average cost, health care economics and organizations, Learning disability, 030304 developmental biology, Cost database, 0303 health sciences, business.industry, 030305 genetics & heredity, Cost-effectiveness analysis, 3. Good health, Cost-effectiveness, medicine.symptom, business, Research Article

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::425e9433fadb5dc02a422fc0d3adbe65Test
http://europepmc.org/articles/PMC2276893Test

المؤلفون: Pramila Ramani, Carmel McConville, Shaheen A. Chughtai, Dominic J. McMullan, J. E. Powell, Val Davison, Sara Dyer, Tracey Genus

المصدر: European Journal of Cancer. 42:1826-1834

مصطلحات موضوعية: Adult, Cancer Research, Pathology, medicine.medical_specialty, Adolescent, Genotype, Loss of Heterozygosity, Disease, Biology, Malignancy, Loss of heterozygosity, Neuroblastoma, medicine, Humans, Stage (cooking), Child, Allelotype, neoplasms, Aged, Infant, Newborn, Infant, Cancer, Middle Aged, medicine.disease, Survival Analysis, Phenotype, Oncology, Child, Preschool, Disease Progression, Cancer research

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dbe5df5982dbf232a902b3be2bf3c5c7Test
https://doi.org/10.1016/j.ejca.2006.03.016Test

المؤلفون: Farida Latif, Beeling Ng, Mark R. Morris, Takeshi Kishida, Mahera Abdulrahman, Masahiro Yao, Susan M. Gribble, Rebecca E. Foster, Nigel P. Carter, Michael S. Wiesener, Steven Ready, Eamonn R. Maher, Dean Gentle, José Luis Barbero, Elena Prigmore, Phil M. T. Weston, Val Davison, Carol Chu

مصطلحات موضوعية: Male, Cancer Research, Candidate gene, Tumor suppressor gene, Molecular Sequence Data, Chromosomal translocation, Biology, medicine.disease_cause, urologic and male genital diseases, Article, Translocation, Genetic, Exon, Genetics, medicine, Humans, neoplasms, Carcinoma, Renal Cell, Cell Line, Transformed, Middle Aged, medicine.disease, Molecular biology, female genital diseases and pregnancy complications, Clear cell renal cell carcinoma, Chromosome 3, Chromosomes, Human, Pair 6, Chromosomes, Human, Pair 3, Carcinogenesis, Clear cell

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::717a74a1fdeb84da347ded2114376fabTest
https://europepmc.org/articles/PMC2695133Test/

المؤلفون: A. Griffiths, Trevor Cole, A. Ng, S. E. Parkes, Val Davison, Richard Grundy, M. Griffiths, Jillian R. Mann, S. Larkin

المصدر: European journal of cancer (Oxford, England : 1990). 43(9)

مصطلحات موضوعية: Adult, Male, Cancer Research, Pediatrics, medicine.medical_specialty, Adolescent, Consanguinity, Wilms Tumor, Congenital Abnormalities, Cohort Studies, Marshall–Smith syndrome, medicine, Humans, Medical history, Sibling, Child, business.industry, Incidence (epidemiology), Cancer, Infant, Wilms' tumor, medicine.disease, Kidney Neoplasms, Pedigree, Oncology, Genetic Techniques, Child, Preschool, Cohort, Female, business, Follow-Up Studies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95e3e95fdae20ec04dfd1e9ec17a91cdTest
https://pubmed.ncbi.nlm.nih.gov/17499987Test

المؤلفون: Lisbeth Tranebjerg, Zeynep Tümer, Iben Bache, Maria Orera, Vera M. Kalscheuer, Elisabeth Blennow, Val Davison, Klaus Wagner, David R. FitzPatrick, Isidora Lopez-Pajares, Laurence Duprez, Maj Hultén, Sultan Cingoz, Sophie Dahoun, Niels Tommerup, Margarita Stefanova, Ingo Hansmann, Jan Murken, Maryse Bonduelle, Bruno Dallapiccola, M.-F. Croquette, Tony Parkin, Kirsten Winther, Kim Smith, Fiorella Shabtai, Kirsten Rasmussen, Catherine Turleau, Claes Lundsteen, Anita Niebuhr, Elvire Van Assche, Gotthold Barbi, Eberhard Schwinger, Carl Birger van der Hagen, Bruno Delobel, Philippe Jonveaux, Nadja Kokalj Vokac, Peter Jensen, Inge Liebaers, Mads F. Hjorth, Georges Bourrouillou, Merete Bugge, Carmen Ramos, Regine Schubert, Leopoldo Zelante, Werner Schempp, Eberhard Passarge, Carmen Ayuso, Herman Tournaye, James Lespinasse, Malcolm A. Ferguson-Smith, Ulf Kristoffersson, Jan Wahlstroem, Gert Bruun-Petersen, Hans-Christoph Duba, Karen Brøndum-Nielsen, Michel Vekemans, Elizabeth Grace, Raymond L. Stallings, Jean McGowan-Jordan

المصدر: University of Copenhagen

مصطلحات موضوعية: Infertility, Genetics, Chromosome Aberrations, Male, medicine.medical_specialty, Cytogenetics, Chromosome, Chromosomal translocation, Karyotype, Locus (genetics), Oligospermia, Biology, medicine.disease, Translocation, Genetic, Male infertility, Chromosomes, Human, Pair 1, Chromosome Inversion, medicine, Humans, Genetics (clinical), Infertility, Male, Chromosomal inversion

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::45e7b3a73407cfbd694bd1f4fa97aaa8Test
https://avesis.deu.edu.tr/publication/details/290330f0-f425-49bd-b49a-b4246cce8d2e/oaiTest

المؤلفون: Pramila Ramani, Paul Davies, Richard Grundy, Sara Dyer, Emma Prebble, Val Davison, David W. Ellison

المصدر: The American journal of pathology. 161(6)

مصطلحات موضوعية: Ependymoma, Oncology, Adult, Male, medicine.medical_specialty, Pathology, Multivariate analysis, Adolescent, Biology, Chromosomes, Pathology and Forensic Medicine, Internal medicine, medicine, Humans, Pediatric ependymoma, Genetic Testing, Child, Survival rate, Genetic testing, Proportional Hazards Models, Chromosome Aberrations, medicine.diagnostic_test, Proportional hazards model, Brain Neoplasms, Cytogenetics, Infant, Nucleic Acid Hybridization, DNA, Neoplasm, medicine.disease, Survival Rate, Treatment Outcome, Child, Preschool, Female, Chromosome Deletion, Comparative genomic hybridization, Regular Articles

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b046ed6eb2b7dc2166952ff614c1f8a6Test
https://pubmed.ncbi.nlm.nih.gov/12466129Test