Temat: "Rare Diseases" - OpacWWW

Skocz do pozycji: 1.

Tytuł:: Lived experiences of genetic diagnosis for rare disease patients: a qualitative interview study.
Autorzy:: Modelhart A; Department of Political Science, University of Vienna, Universitätsstraße 1, 1010, Vienna, Austria. .; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria. .
Sturz D; Pro Rare Austria - Austrian Rare Disease Alliance, Vienna, Austria.; ePAG (European Patient Advocacy Group) ERN-Eye, Strasbourg, FR, France.; Retina International Usher Syndrome Committee and Genetic Diagnosis Task Force, Dublin, Ireland.; Usher Initiative Austria, Vienna, Austria.
Kremslehner L
Prainsack B; Department of Political Science, University of Vienna, Universitätsstraße 1, 1010, Vienna, Austria.; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria.; Pokaż więcej
Źródło:: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Feb 14; Vol. 19 (1), pp. 68. Date of Electronic Publication: 2024 Feb 14.
Typ publikacji:: Journal Article
MeSH Terms:: Rare Diseases*/diagnosis
Rare Diseases*/genetics
Parents*
Humans ; Qualitative Research ; Austria

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Skocz do pozycji: 2.

Tytuł:: Landscape analysis of available European data sources amenable for machine learning and recommendations on usability for rare diseases screening.
Autorzy:: Raycheva R; Department of Social Medicine and Public Health, Faculty of Public Health, Medical University of Plovdiv, Plovdiv, Bulgaria. .; Bulgarian Association for Promotion of Education and Science, Institute for Rare Disease, Plovdiv, Bulgaria. .
Kostadinov K; Department of Social Medicine and Public Health, Faculty of Public Health, Medical University of Plovdiv, Plovdiv, Bulgaria.; Bulgarian Association for Promotion of Education and Science, Institute for Rare Disease, Plovdiv, Bulgaria.
Mitova E; Bulgarian Association for Promotion of Education and Science, Institute for Rare Disease, Plovdiv, Bulgaria.
Iskrov G; Department of Social Medicine and Public Health, Faculty of Public Health, Medical University of Plovdiv, Plovdiv, Bulgaria.; Bulgarian Association for Promotion of Education and Science, Institute for Rare Disease, Plovdiv, Bulgaria.
Stefanov G; Bulgarian Association for Promotion of Education and Science, Institute for Rare Disease, Plovdiv, Bulgaria.
Vakevainen M; Pfizer Biopharmaceuticals Group, Medical Affairs, Helsinki, Finland.
Elomaa K; Takeda Oy, Helsinki, Finland.
Man YS; Global Medical Affairs Rare Disease, Novo Nordisk Health Care AG, Zurich, Switzerland.
Gross E; EURORDIS - Rare Diseases Europe, 96 Rue Didot, Paris, 75014, France.
Zschüntzsch J; Department of Neurology, University Medical Center, Göttingen, Germany.
Röttger R; Department of Mathematics and Computer Science, University of Southern Denmark, Odense, Denmark.
Stefanov R; Department of Social Medicine and Public Health, Faculty of Public Health, Medical University of Plovdiv, Plovdiv, Bulgaria.; Bulgarian Association for Promotion of Education and Science, Institute for Rare Disease, Plovdiv, Bulgaria.; Pokaż więcej
Źródło:: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Apr 06; Vol. 19 (1), pp. 147. Date of Electronic Publication: 2024 Apr 06.
Typ publikacji:: Journal Article
MeSH Terms:: Rare Diseases*/diagnosis
Humans ; Bayes Theorem ; Cross-Sectional Studies ; Machine Learning

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Skocz do pozycji: 3.

Tytuł:: Analysis of affordability differences for rare diseases in China: a comparison across disease types and regions.
Autorzy:: Chen Y; School of International Pharmaceutical Business, China Pharmaceutical University, Nanjing, China.
Chen X; School of International Pharmaceutical Business, China Pharmaceutical University, Nanjing, China.
Deng Y; School of International Pharmaceutical Business, China Pharmaceutical University, Nanjing, China.
Ding J; School of International Pharmaceutical Business, China Pharmaceutical University, Nanjing, China. .; Pokaż więcej
Źródło:: International journal for equity in health [Int J Equity Health] 2024 Mar 19; Vol. 23 (1), pp. 64. Date of Electronic Publication: 2024 Mar 19.
Typ publikacji:: Journal Article
MeSH Terms:: Rare Diseases*
Health Care Costs*
Humans ; Outpatients ; China

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Skocz do pozycji: 4.

Tytuł:: A systematic review of real-world evidence (RWE) supportive of new drug and biologic license application approvals in rare diseases.
Autorzy:: Vaghela S; HealthEcon Consulting, Inc, Ancaster, ON, Canada.
Tanni KA; Harrison College of Pharmacy, Auburn University, Auburn, AL, USA.
Banerjee G; Moderna, Inc, Cambridge, MA, USA. .
Sikirica V; Moderna, Inc, Cambridge, MA, USA.; Pokaż więcej
Źródło:: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Mar 12; Vol. 19 (1), pp. 117. Date of Electronic Publication: 2024 Mar 12.
Typ publikacji:: Systematic Review; Journal Article; Review
MeSH Terms:: Rare Diseases*
Biological Products*
Humans ; Retrospective Studies ; Orphan Drug Production ; Drug Approval

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Skocz do pozycji: 5.

Tytuł:: Trends in orphan medicinal products approvals in the European Union between 2010-2022.
Autorzy:: Bouwman L; Faculdade de Farmácia, Universidade de Lisboa, Lisbon, Portugal. .; Laboratory of Systems Integration Pharmacology, Clinical and Regulatory Science, Research Institute for Medicines of the University of Lisbon (iMED.ULisboa), Lisbon, Portugal. .
Sepodes B; Faculdade de Farmácia, Universidade de Lisboa, Lisbon, Portugal.; Laboratory of Systems Integration Pharmacology, Clinical and Regulatory Science, Research Institute for Medicines of the University of Lisbon (iMED.ULisboa), Lisbon, Portugal.
Leufkens H; Faculdade de Farmácia, Universidade de Lisboa, Lisbon, Portugal.; Division of Pharmacoepidemiology and Clinical Pharmacology, Utrecht Institute for Pharmaceutical Sciences (UIPS), Utrecht University, Utrecht, The Netherlands.
Torre C; Faculdade de Farmácia, Universidade de Lisboa, Lisbon, Portugal.; Laboratory of Systems Integration Pharmacology, Clinical and Regulatory Science, Research Institute for Medicines of the University of Lisbon (iMED.ULisboa), Lisbon, Portugal.; Pokaż więcej
Źródło:: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Feb 27; Vol. 19 (1), pp. 91. Date of Electronic Publication: 2024 Feb 27.
Typ publikacji:: Journal Article
MeSH Terms:: Orphan Drug Production*
Rare Diseases*/drug therapy
Humans ; European Union ; Europe ; Pharmaceutical Preparations ; Drug Approval

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Skocz do pozycji: 6.

Tytuł:: Genome sequencing as a generic diagnostic strategy for rare disease.
Autorzy:: Schobers G; Department of Human Genetics, Radboudumc, Nijmegen, Netherlands.; Research Institute for Medical Innovation, Radboudumc, Nijmegen, Netherlands.
Derks R; Department of Human Genetics, Radboudumc, Nijmegen, Netherlands.
den Ouden A; Department of Human Genetics, Radboudumc, Nijmegen, Netherlands.
Swinkels H; Department of Human Genetics, Radboudumc, Nijmegen, Netherlands.
van Reeuwijk J; Department of Human Genetics, Radboudumc, Nijmegen, Netherlands.; Research Institute for Medical Innovation, Radboudumc, Nijmegen, Netherlands.
Bosgoed E; Department of Human Genetics, Radboudumc, Nijmegen, Netherlands.
Lugtenberg D; Department of Human Genetics, Radboudumc, Nijmegen, Netherlands.
Sun SM; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, Netherlands.
Corominas Galbany J; Department of Human Genetics, Radboudumc, Nijmegen, Netherlands.; Research Institute for Medical Innovation, Radboudumc, Nijmegen, Netherlands.
Weiss M; Department of Human Genetics, Radboudumc, Nijmegen, Netherlands.
Blok MJ; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, Netherlands.
Olde Keizer RACM; Department of Human Genetics, Radboudumc, Nijmegen, Netherlands.; Research Institute for Medical Innovation, Radboudumc, Nijmegen, Netherlands.
Hofste T; Department of Human Genetics, Radboudumc, Nijmegen, Netherlands.
Hellebrekers D; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, Netherlands.
de Leeuw N; Department of Human Genetics, Radboudumc, Nijmegen, Netherlands.
Stegmann A; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, Netherlands.
Kamsteeg EJ; Department of Human Genetics, Radboudumc, Nijmegen, Netherlands.
Paulussen ADC; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, Netherlands.
Ligtenberg MJL; Department of Human Genetics, Radboudumc, Nijmegen, Netherlands.; Research Institute for Medical Innovation, Radboudumc, Nijmegen, Netherlands.
Bradley XZ; Illumina Inc., Cambridge, UK.
Peden J; Illumina Inc., Cambridge, UK.
Gutierrez A; Illumina Inc., Cambridge, UK.
Pullen A; Illumina Inc., Cambridge, UK.
Payne T; Illumina Inc., Cambridge, UK.
Gilissen C; Department of Human Genetics, Radboudumc, Nijmegen, Netherlands.; Research Institute for Medical Innovation, Radboudumc, Nijmegen, Netherlands.
van den Wijngaard A; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, Netherlands.
Brunner HG; Department of Human Genetics, Radboudumc, Nijmegen, Netherlands.; Research Institute for Medical Innovation, Radboudumc, Nijmegen, Netherlands.; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, Netherlands.
Nelen M; Department of Human Genetics, Radboudumc, Nijmegen, Netherlands.
Yntema HG; Department of Human Genetics, Radboudumc, Nijmegen, Netherlands.; Research Institute for Medical Innovation, Radboudumc, Nijmegen, Netherlands.
Vissers LELM; Department of Human Genetics, Radboudumc, Nijmegen, Netherlands. .; Research Institute for Medical Innovation, Radboudumc, Nijmegen, Netherlands. .; Pokaż więcej
Źródło:: Genome medicine [Genome Med] 2024 Feb 14; Vol. 16 (1), pp. 32. Date of Electronic Publication: 2024 Feb 14.
Typ publikacji:: Journal Article
MeSH Terms:: Rare Diseases*/diagnosis
Rare Diseases*/genetics
High-Throughput Nucleotide Sequencing*
Humans ; Whole Genome Sequencing ; Base Sequence ; Chromosome Mapping ; Exome Sequencing

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Skocz do pozycji: 7.

Tytuł:: Machine learning-based algorithms applied to drug prescriptions and other healthcare services in the Sicilian claims database to identify acromegaly as a model for the earlier diagnosis of rare diseases.
Autorzy:: Crisafulli S; Department of Medicine, University of Verona, Verona, Italy.
Fontana A; Unit of Biostatistics, Fondazione IRCCS Casa Sollievo Della Sofferenza, San Giovanni Rotondo, Italy.
L'Abbate L; Department of Biomedical and Dental Sciences and Morphofunctional Imaging, University of Messina, Messina, Italy.
Vitturi G; Department of Diagnostics and Public Health, University of Verona, P.Le L.A. Scuro 10, 37124, Verona, Italy.
Cozzolino A; Section of Medical Pathophysiology and Endocrinology, Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy.
Gianfrilli D; Section of Medical Pathophysiology and Endocrinology, Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy.
De Martino MC; Dipartimento Di Medicina Clinica E Chirurgia, Università Federico II Di Napoli, Naples, Italy.
Amico B; Department of Computer Science, University of Verona, Verona, Italy.
Combi C; Department of Computer Science, University of Verona, Verona, Italy.
Trifirò G; Department of Diagnostics and Public Health, University of Verona, P.Le L.A. Scuro 10, 37124, Verona, Italy. .; Pokaż więcej
Źródło:: Scientific reports [Sci Rep] 2024 Mar 14; Vol. 14 (1), pp. 6186. Date of Electronic Publication: 2024 Mar 14.
Typ publikacji:: Journal Article
MeSH Terms:: Rare Diseases*
Acromegaly*/diagnosis
Humans ; Retrospective Studies ; Delayed Diagnosis ; Algorithms ; Machine Learning ; Drug Prescriptions ; Early Diagnosis ; Sicily/epidemiology

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Skocz do pozycji: 8.

Tytuł:: Istore: a project on innovative statistical methodologies to improve rare diseases clinical trials in limited populations.
Autorzy:: Schoenen S; Institute of Medical Statistics, RWTH Aachen University, Pauwelsstrasse 19, 52074, Aachen, Germany.
Verbeeck J; I-BioStat, Data Science Institute, Hasselt University, Martelarenlaan 42, 3500, Hasselt, Belgium.
Koletzko L; Institute of Statistics, Ruhr-University Bochum, Universitätsstraße 150, 44801, Bochum, Germany.
Brambilla I; Dravet Italia Onlus - European Patient Advocacy Group (ePAG) EpiCARE, 37100, Verona, Italy.; Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, Research Center for Pediatric Epilepsies, University of Verona, Via S. Francesco, 22, 37129, Verona, Italy.
Kuchenbuch M; Institut des Maladies Gènètiques Imagine-Necker Enfants malades Hospital, 24 Boulevard du Montparnasse, 75015, Paris, France.; Necker Enfants malades Hospital, 149 Rue de Sèvre, 75015, Paris, France.
Dirani M; Institut des Maladies Gènètiques Imagine-Necker Enfants malades Hospital, 24 Boulevard du Montparnasse, 75015, Paris, France.; Necker Enfants malades Hospital, 149 Rue de Sèvre, 75015, Paris, France.
Zimmermann G; Team Biostatistics and Big Medical Data, IDA Lab Salzburg, Paracelsus Medical University, Strubergasse 21, 5020, Salzburg, Austria.
Dette H; Institute of Statistics, Ruhr-University Bochum, Universitätsstraße 150, 44801, Bochum, Germany.
Hilgers RD; Institute of Medical Statistics, RWTH Aachen University, Pauwelsstrasse 19, 52074, Aachen, Germany. .
Molenberghs G; I-BioStat, Data Science Institute, Hasselt University, Martelarenlaan 42, 3500, Hasselt, Belgium.; I-BioStat, KU Leuven, Kapucijnenvoer 35, 3000, Leuven, Belgium.
Nabbout R; Institut des Maladies Gènètiques Imagine-Necker Enfants malades Hospital, 24 Boulevard du Montparnasse, 75015, Paris, France.; Necker Enfants malades Hospital, 149 Rue de Sèvre, 75015, Paris, France.; Pokaż więcej
Źródło:: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Mar 02; Vol. 19 (1), pp. 96. Date of Electronic Publication: 2024 Mar 02.
Typ publikacji:: Journal Article
MeSH Terms:: Rare Diseases*
Research Design*
Humans

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Skocz do pozycji: 9.

Tytuł:: Embracing the unknown: investigating medical communication around uncertainty and the implications on patient and family well-being.
Autorzy:: Devisetti L; University of California, Berkeley, University Avenue and, Oxford St, 94720, Berkeley, CA, USA. .; Pokaż więcej
Źródło:: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Feb 26; Vol. 19 (1), pp. 37. Date of Electronic Publication: 2024 Feb 26.
Typ publikacji:: Letter
MeSH Terms:: Rare Diseases*
Family*
Humans ; Uncertainty ; Communication ; Delivery of Health Care

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Skocz do pozycji: 10.

Tytuł:: Analysis of the first ten years of FDA's rare pediatric disease priority review voucher program: designations, diseases, and drug development.
Autorzy:: Mease C; Office of Orphan Products Development, Office of the Commissioner, US Food and Drug Administration, 10903 New Hampshire Ave, Silver Spring, MD, 20993, USA. .
Miller KL; Office of Orphan Products Development, Office of the Commissioner, US Food and Drug Administration, 10903 New Hampshire Ave, Silver Spring, MD, 20993, USA.
Fermaglich LJ; Office of Orphan Products Development, Office of the Commissioner, US Food and Drug Administration, 10903 New Hampshire Ave, Silver Spring, MD, 20993, USA.
Best J; Office of Pediatric Therapeutics, Office of the Commissioner, US Food and Drug Administration, 10903 New Hampshire Ave, Silver Spring, MD, 20993, USA.
Liu G; Office of Therapeutic Products, Center for Biologics Evaluation and Research, US Food and Drug Administration, 10903 New Hampshire Ave, Silver Spring, MD, 20993, USA.
Torjusen E; Office of Orphan Products Development, Office of the Commissioner, US Food and Drug Administration, 10903 New Hampshire Ave, Silver Spring, MD, 20993, USA.; Pokaż więcej
Źródło:: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Feb 25; Vol. 19 (1), pp. 86. Date of Electronic Publication: 2024 Feb 25.
Typ publikacji:: Journal Article; Review
MeSH Terms:: Neoplasms*/drug therapy
Rare Diseases*/drug therapy
Child ; Humans ; Infant, Newborn ; Drug Approval ; Drug Development ; Orphan Drug Production ; United States ; United States Food and Drug Administration

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Skocz do pozycji: 11.

Tytuł:: Factors affecting overall care experience for people living with rare conditions in the UK: exploratory analysis of a quantitative patient experience survey.
Autorzy:: Jones J; Genetic Alliance UK, Creative Works, 7 Blackhorse Road, London, E17 6DS, UK. .; Department of Population Health Sciences, University of Leicester, University Road, Leicester, LE1 7RH, UK. .
Cruddas M; Genetic Alliance UK, Creative Works, 7 Blackhorse Road, London, E17 6DS, UK.
Simpson A; Institute of Public Care, Oxford Brookes University, Harcourt Hill Campus, Oxford, OX2 9AT, UK.
Meade N; Genetic Alliance UK, Creative Works, 7 Blackhorse Road, London, E17 6DS, UK.
Pushparajah D; ALEXION PHARMA UK LTD, 3 Furzeground Way, Stockley Park, Uxbridge, UB11 1EZ, UK.
Peter M; North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, Level 5, Barclay House, 37 Queen Square, London, WC1N 3BH, UK.
Hunter A; Genetic Alliance UK, Creative Works, 7 Blackhorse Road, London, E17 6DS, UK.; Pokaż więcej
Źródło:: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Feb 19; Vol. 19 (1), pp. 77. Date of Electronic Publication: 2024 Feb 19.
Typ publikacji:: Journal Article
MeSH Terms:: Rare Diseases*
Delivery of Health Care*
Humans ; Surveys and Questionnaires ; Patient Outcome Assessment ; United Kingdom

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Skocz do pozycji: 12.

Tytuł:: Performance and clinical utility of a new supervised machine-learning pipeline in detecting rare ciliopathy patients based on deep phenotyping from electronic health records and semantic similarity.
Autorzy:: Faviez C; Centre de Recherche des Cordeliers, Université Paris Cité, Sorbonne Université, INSERM UMR 1138, 75006, Paris, France. .; Inria, 75012, Paris, France. .
Vincent M; Université Paris Cité, Imagine Institute, Data Science Platform, INSERM UMR 1163, 75015, Paris, France.
Garcelon N; Centre de Recherche des Cordeliers, Université Paris Cité, Sorbonne Université, INSERM UMR 1138, 75006, Paris, France.; Inria, 75012, Paris, France.; Université Paris Cité, Imagine Institute, Data Science Platform, INSERM UMR 1163, 75015, Paris, France.
Boyer O; Department of Pediatric Nephrology, APHP-Centre, Reference Center for Inherited Renal Diseases (MARHEA), Imagine Institute, Hôpital Necker-Enfants Malades, Université Paris Cité, 75015, Paris, France.; Laboratory of Renal Hereditary Diseases, INSERM UMR 1163, Imagine Institute, Université Paris Cité, 75015, Paris, France.
Knebelmann B; Nephrology and Transplantation Department, MARHEA, Hôpital Necker-Enfants Malades, AP-HP, Université Paris Cité, 75015, Paris, France.
Heidet L; Department of Pediatric Nephrology, APHP-Centre, Reference Center for Inherited Renal Diseases (MARHEA), Imagine Institute, Hôpital Necker-Enfants Malades, Université Paris Cité, 75015, Paris, France.
Saunier S; Laboratory of Renal Hereditary Diseases, INSERM UMR 1163, Imagine Institute, Université Paris Cité, 75015, Paris, France.
Chen X; Centre de Recherche des Cordeliers, Université Paris Cité, Sorbonne Université, INSERM UMR 1138, 75006, Paris, France.; Inria, 75012, Paris, France.; Université Paris Cité, Imagine Institute, Data Science Platform, INSERM UMR 1163, 75015, Paris, France.
Burgun A; Centre de Recherche des Cordeliers, Université Paris Cité, Sorbonne Université, INSERM UMR 1138, 75006, Paris, France.; Inria, 75012, Paris, France.; Département d'informatique Médicale, Hôpital Necker-Enfants Malades, AP-HP, 75015, Paris, France.; Pokaż więcej
Źródło:: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Feb 10; Vol. 19 (1), pp. 55. Date of Electronic Publication: 2024 Feb 10.
Typ publikacji:: Journal Article
MeSH Terms:: Rare Diseases*
Ciliopathies*/diagnosis
Ciliopathies*/genetics
Humans ; Electronic Health Records ; Semantics ; Supervised Machine Learning ; Algorithms

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Skocz do pozycji: 13.

Tytuł:: Coding undiagnosed rare disease patients in health information systems: recommendations from the RD-CODE project.
Autorzy:: Angin C; French National Rare Disease Registry (BNDMR), Greater Paris University Hospitals (AP-HP), 33 Boulevard de Picpus, 75012, Paris, France. .
Mazzucato M; RD Coordinating Centre, Veneto Region, Padua University Hospital, Padua, Italy.
Weber S; BfArM, Cologne, Germany.
Kirch K; BfArM, Cologne, Germany.
Abdel Khalek W; Inserm, US14-Orphanet, Paris, France.
Ali H; Inserm, US14-Orphanet, Paris, France.
Maiella S; Inserm, US14-Orphanet, Paris, France.
Olry A; Inserm, US14-Orphanet, Paris, France.
Jannot AS; French National Rare Disease Registry (BNDMR), Greater Paris University Hospitals (AP-HP), 33 Boulevard de Picpus, 75012, Paris, France.; Centre de Recherche Des Cordeliers Paris, Université Paris Cité, HeKA INSERM, INRIA Paris, Paris, France.
Rath A; Inserm, US14-Orphanet, Paris, France.; Pokaż więcej
Źródło:: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Jan 27; Vol. 19 (1), pp. 28. Date of Electronic Publication: 2024 Jan 27.
Typ publikacji:: Journal Article
MeSH Terms:: Rare Diseases*/diagnosis
Rare Diseases*/epidemiology
Health Information Systems*
Humans ; Delayed Diagnosis ; Europe ; European Union

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Skocz do pozycji: 14.

Tytuł:: Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.
Autorzy:: Pagnamenta AT; Wellcome Centre for Human Genetics, University of Oxford, Old Road Campus, Roosevelt Drive, Oxford, OX3 7BN, UK.; NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 9DU, UK.
Camps C; Wellcome Centre for Human Genetics, University of Oxford, Old Road Campus, Roosevelt Drive, Oxford, OX3 7BN, UK.; NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 9DU, UK.
Giacopuzzi E; Wellcome Centre for Human Genetics, University of Oxford, Old Road Campus, Roosevelt Drive, Oxford, OX3 7BN, UK.; NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 9DU, UK.; Human Technopole, Viale Rita Levi Montalcini 1, 20157, Milan, Italy.
Taylor JM; NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 9DU, UK.; Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Churchill Hospital, Old Road, Oxford, OX3 7LE, UK.
Hashim M; Wellcome Centre for Human Genetics, University of Oxford, Old Road Campus, Roosevelt Drive, Oxford, OX3 7BN, UK.; NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 9DU, UK.
Calpena E; NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 9DU, UK.; MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, OX3 9DS, UK.
Kaisaki PJ; Wellcome Centre for Human Genetics, University of Oxford, Old Road Campus, Roosevelt Drive, Oxford, OX3 7BN, UK.; NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 9DU, UK.
Hashimoto A; MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, OX3 9DS, UK.
Yu J; Wellcome Centre for Human Genetics, University of Oxford, Old Road Campus, Roosevelt Drive, Oxford, OX3 7BN, UK.; NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 9DU, UK.
Sanders E; MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, OX3 9DS, UK.
Schwessinger R; MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, OX3 9DS, UK.
Hughes JR; MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, OX3 9DS, UK.
Lunter G; MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, OX3 9DS, UK.; University Medical Center Groningen, Groningen University, PO Box 72, 9700 AB, Groningen, The Netherlands.
Dreau H; NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 9DU, UK.; Department of Oncology, Oxford Molecular Diagnostics Centre, University of Oxford, Level 4, John Radcliffe Hospital, Headley Way, Oxford, OX3 9DU, UK.
Ferla M; Wellcome Centre for Human Genetics, University of Oxford, Old Road Campus, Roosevelt Drive, Oxford, OX3 7BN, UK.; NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 9DU, UK.
Lange L; Wellcome Centre for Human Genetics, University of Oxford, Old Road Campus, Roosevelt Drive, Oxford, OX3 7BN, UK.; NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 9DU, UK.
Kesim Y; Wellcome Centre for Human Genetics, University of Oxford, Old Road Campus, Roosevelt Drive, Oxford, OX3 7BN, UK.; NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 9DU, UK.
Ragoussis V; Wellcome Centre for Human Genetics, University of Oxford, Old Road Campus, Roosevelt Drive, Oxford, OX3 7BN, UK.; NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 9DU, UK.
Vavoulis DV; Wellcome Centre for Human Genetics, University of Oxford, Old Road Campus, Roosevelt Drive, Oxford, OX3 7BN, UK.; NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 9DU, UK.; Department of Oncology, Oxford Molecular Diagnostics Centre, University of Oxford, Level 4, John Radcliffe Hospital, Headley Way, Oxford, OX3 9DU, UK.
Allroggen H; Neurosciences Department, UHCW NHS Trust, Clifford Bridge Road, Coventry, CV2 2DX, UK.
Ansorge O; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, OX3 9DU, UK.
Babbs C; MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, OX3 9DS, UK.
Banka S; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Oxford Road, Manchester, M13 9WL, UK.
Baños-Piñero B; Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Churchill Hospital, Old Road, Oxford, OX3 7LE, UK.
Beeson D; MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, OX3 9DS, UK.; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, OX3 9DU, UK.
Ben-Ami T; Pediatric Hematology-Oncology Unit, Kaplan Medical Center, Rehovot, Israel.
Bennett DL; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, OX3 9DU, UK.
Bento C; Hematology Department, Hospitais da Universidade de Coimbra, Coimbra, Portugal.
Blair E; NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 9DU, UK.; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 7LE, UK.
Brasch-Andersen C; Department of Clinical Genetics, Odense University Hospital and Department of Clinical Research, University of Southern Denmark, Odense, Denmark.
Bull KR; Wellcome Centre for Human Genetics, University of Oxford, Old Road Campus, Roosevelt Drive, Oxford, OX3 7BN, UK.; Nuffield Department of Medicine, University of Oxford, Oxford, OX3 7BN, UK.
Cario H; Department of Pediatrics and Adolescent Medicine, University Medical Center, Eythstrasse 24, 89075, Ulm, Germany.
Cilliers D; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 7LE, UK.
Conti V; Neuroscience Department, Meyer Children's Hospital IRCCS, Viale Pieraccini 24, 50139, Florence, Italy.
Davies EG; Department of Immunology, Great Ormond Street Hospital for Children NHS Trust and UCL Great Ormond Street Institute of Child Health, Zayed Centre for Research, 2Nd Floor, 20C Guilford Street, London, WC1N 1DZ, UK.
Dhalla F; Department of Paediatrics, Institute of Developmental and Regenerative Medicine, IMS-Tetsuya Nakamura Building, Old Road Campus, Roosevelt Drive, Oxford, OX3 7TY, UK.
Dacal BD; Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Churchill Hospital, Old Road, Oxford, OX3 7LE, UK.
Dong Y; MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, OX3 9DS, UK.; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, OX3 9DU, UK.
Dunford JE; Oxford NIHR Musculoskeletal BRC and Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Sciences, Nuffield Orthopaedic Centre, Old Road, Oxford, OX3 7HE, UK.
Guerrini R; Neuroscience Department, Meyer Children's Hospital IRCCS, Viale Pieraccini 24, 50139, Florence, Italy.
Harris AL; Department of Oncology, University of Oxford, Old Road Campus Research Building, Oxford, OX3 7DQ, UK.
Hartley J; Liver Unit, Birmingham Women's & Children's Hospital and University of Birmingham, Steelhouse Lane, Birmingham, B4 6NH, UK.
Hollander G; Department of Paediatrics, University of Oxford, Level 2, Children's Hospital, John Radcliffe Hospital, Oxford, OX3 9DU, UK.
Javaid K; Oxford NIHR Musculoskeletal BRC and Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Sciences, Nuffield Orthopaedic Centre, Old Road, Oxford, OX3 7HE, UK.
Kane M; Department of Pharmaceutical Sciences, School of Pharmacy, University of Maryland, Pharmacy Hall North, Room 731, 20 N. Pine Street, Baltimore, MD, 21201, USA.
Kelly D; Liver Unit, Birmingham Women's & Children's Hospital and University of Birmingham, Steelhouse Lane, Birmingham, B4 6NH, UK.
Kelly D; Children's Hospital, OUH NHS Foundation Trust, NIHR Oxford BRC, Headley Way, Oxford, OX3 9DU, UK.
Knight SJL; Wellcome Centre for Human Genetics, University of Oxford, Old Road Campus, Roosevelt Drive, Oxford, OX3 7BN, UK.; NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 9DU, UK.
Kreins AY; Department of Immunology, Great Ormond Street Hospital for Children NHS Trust and UCL Great Ormond Street Institute of Child Health, Zayed Centre for Research, 2Nd Floor, 20C Guilford Street, London, WC1N 1DZ, UK.
Kvikstad EM; Wellcome Centre for Human Genetics, University of Oxford, Old Road Campus, Roosevelt Drive, Oxford, OX3 7BN, UK.; NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 9DU, UK.
Langman CB; Feinberg School of Medicine, Northwestern University, 211 E Chicago Avenue, Chicago, IL, MS37, USA.
Lester T; Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Churchill Hospital, Old Road, Oxford, OX3 7LE, UK.
Lines KE; NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 9DU, UK.; University of Oxford, Academic Endocrine Unit, OCDEM, Churchill Hospital, Oxford, OX3 7LJ, UK.
Lord SR; Early Phase Clinical Trials Unit, Department of Oncology, University of Oxford, Cancer and Haematology Centre, Level 2 Administration Area, Churchill Hospital, Oxford, OX3 7LJ, UK.
Lu X; Nuffield Department of Clinical Medicine, Ludwig Institute for Cancer Research, University of Oxford, Old Road Campus Research Building, Oxford, OX3 7DQ, UK.
Mansour S; St George's University Hospitals NHS Foundation Trust, Blackshore Road, Tooting, London, SW17 0QT, UK.
Manzur A; MRC Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery, Queen Square, London, WC1N 3BG, UK.
Maroofian R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, WC1N 3BG, UK.
Marsden B; Nuffield Department of Medicine, Kennedy Institute, University of Oxford, Oxford, OX3 7BN, UK.
Mason J; Yourgene Health Headquarters, Skelton House, Lloyd Street North, Manchester Science Park, Manchester, M15 6SH, UK.
McGowan SJ; MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, OX3 9DS, UK.
Mei D; Neuroscience Department, Meyer Children's Hospital IRCCS, Viale Pieraccini 24, 50139, Florence, Italy.
Mlcochova H; MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, OX3 9DS, UK.
Murakami Y; Research Institute for Microbial Diseases, Osaka University, 3-1 Yamadaoka, Suita, Osaka, 565-0871, Japan.
Németh AH; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, OX3 9DU, UK.; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 7LE, UK.
Okoli S; Imperial College NHS Trust, Department of Haematology, Hammersmith Hospital, Du Cane Road, London, W12 0HS, UK.
Ormondroyd E; NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 9DU, UK.; University of Oxford, Level 6 West Wing, Oxford, OX3 9DU, JR, UK.
Ousager LB; Department of Clinical Genetics, Odense University Hospital and Department of Clinical Research, University of Southern Denmark, Odense, Denmark.
Palace J; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, OX3 9DU, UK.
Patel SY; Clinical Immunology, John Radcliffe Hospital, Level 4A, Oxford, OX3 9DU, UK.
Pentony MM; Wellcome Centre for Human Genetics, University of Oxford, Old Road Campus, Roosevelt Drive, Oxford, OX3 7BN, UK.; NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 9DU, UK.
Pugh C; Nuffield Department of Medicine, University of Oxford, Oxford, OX3 7BN, UK.
Rad A; Department of Otolaryngology-Head & Neck Surgery, Tübingen Hearing Research Centre, Eberhard Karls University, Elfriede-Aulhorn-Str. 5, 72076, Tübingen, Germany.
Ramesh A; Wellcome Centre for Human Genetics, University of Oxford, Old Road Campus, Roosevelt Drive, Oxford, OX3 7BN, UK.; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, OX3 9DU, UK.
Riva SG; MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, OX3 9DS, UK.
Roberts I; MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, OX3 9DS, UK.; Department of Paediatrics, University of Oxford, Level 2, Children's Hospital, John Radcliffe Hospital, Oxford, OX3 9DU, UK.
Roy N; Department of Haematology, Oxford University Hospitals NHS Foundation Trust, Level 4, Haematology, John Radcliffe Hospital, Oxford, OX3 9DU, UK.
Salminen O; NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 9DU, UK.; Department of Oncology, Oxford Molecular Diagnostics Centre, University of Oxford, Level 4, John Radcliffe Hospital, Headley Way, Oxford, OX3 9DU, UK.
Schilling KD; Ann & Robert H. Lurie Children's Hospital of Chicago, 225 E Chicago Avenue, Chicago, IL, 60611, USA.
Scott C; MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, OX3 9DS, UK.
Sen A; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, OX3 9DU, UK.
Smith C; Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Churchill Hospital, Old Road, Oxford, OX3 7LE, UK.
Stevenson M; University of Oxford, Academic Endocrine Unit, OCDEM, Churchill Hospital, Oxford, OX3 7LJ, UK.
Thakker RV; University of Oxford, Academic Endocrine Unit, OCDEM, Churchill Hospital, Oxford, OX3 7LJ, UK.
Twigg SRF; MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, OX3 9DS, UK.
Uhlig HH; NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 9DU, UK.; Department of Paediatrics, University of Oxford, Level 2, Children's Hospital, John Radcliffe Hospital, Oxford, OX3 9DU, UK.; Translational Gastroenterology Unit, John Radcliffe Hospital, Oxford, OX3 9DU, UK.
van Wijk R; UMC Utrecht, Heidelberglaan 100, 3584 CX, Utrecht, The Netherlands.
Vona B; Department of Otolaryngology-Head & Neck Surgery, Tübingen Hearing Research Centre, Eberhard Karls University, Elfriede-Aulhorn-Str. 5, 72076, Tübingen, Germany.; Institute of Human Genetics, University Medical Center Göttingen, Heinrich-Düker-Weg 12, 37073, Göttingen, Germany.; Institute for Auditory Neuroscience and InnerEarLab, University Medical Center Göttingen, Robert-Koch-Str. 40, 37075, Göttingen, Germany.
Wall S; Oxford Craniofacial Unit, John Radcliffe Hospital, Level LG1, West Wing, Oxford, OX3 9DU, UK.
Wang J; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, OX3 9DU, UK.
Watkins H; NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 9DU, UK.; University of Oxford, Level 6 West Wing, Oxford, OX3 9DU, JR, UK.
Zak J; Nuffield Department of Clinical Medicine, Ludwig Institute for Cancer Research, University of Oxford, Old Road Campus Research Building, Oxford, OX3 7DQ, UK.; Department of Immunology and Microbiology, The Scripps Research Institute, 10550 North Torrey Pines Road, La Jolla, CA, 92037, USA.
Schuh AH; Department of Oncology, Oxford Molecular Diagnostics Centre, University of Oxford, Level 4, John Radcliffe Hospital, Headley Way, Oxford, OX3 9DU, UK.
Kini U; NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 9DU, UK.; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 7LE, UK.
Wilkie AOM; NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 9DU, UK.; MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, OX3 9DS, UK.
Popitsch N; Wellcome Centre for Human Genetics, University of Oxford, Old Road Campus, Roosevelt Drive, Oxford, OX3 7BN, UK.; NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 9DU, UK.; Department of Biochemistry and Cell Biology, Max Perutz Labs, University of Vienna, Vienna BioCenter(VBC), Dr.-Bohr-Gasse 9, 1030, Vienna, Austria.
Taylor JC; Wellcome Centre for Human Genetics, University of Oxford, Old Road Campus, Roosevelt Drive, Oxford, OX3 7BN, UK. .; NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 9DU, UK. .; Pokaż więcej
Źródło:: Genome medicine [Genome Med] 2023 Nov 09; Vol. 15 (1), pp. 94. Date of Electronic Publication: 2023 Nov 09.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Genetic Variation*
Rare Diseases*/diagnosis
Rare Diseases*/genetics
Humans ; Whole Genome Sequencing ; Genetic Testing ; Mutation ; Cell Cycle Proteins

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Skocz do pozycji: 15.

Tytuł:: Are the European reference networks for rare diseases ready to embrace machine learning? A mixed-methods study.
Autorzy:: Iskrov G; Institute for Rare Diseases, 22 Maestro G. Atanasov St., 4017, Plovdiv, Bulgaria. .; Department of Social Medicine and Public Health, Faculty of Public Health, Medical University of Plovdiv, 15A Vasil Aprilov Blvd., 4002, Plovdiv, Bulgaria. .
Raycheva R; Institute for Rare Diseases, 22 Maestro G. Atanasov St., 4017, Plovdiv, Bulgaria.; Department of Social Medicine and Public Health, Faculty of Public Health, Medical University of Plovdiv, 15A Vasil Aprilov Blvd., 4002, Plovdiv, Bulgaria.
Kostadinov K; Institute for Rare Diseases, 22 Maestro G. Atanasov St., 4017, Plovdiv, Bulgaria.; Department of Social Medicine and Public Health, Faculty of Public Health, Medical University of Plovdiv, 15A Vasil Aprilov Blvd., 4002, Plovdiv, Bulgaria.
Gillner S; KPM Center for Public Management, University of Bern, Freiburgstr. 3, 3010, Bern, Switzerland.; Swiss Institute for Translational and Entrepreneurial Medicine (Sitem-Insel), Freiburgstr. 3, 3010, Bern, Switzerland.
Blankart CR; KPM Center for Public Management, University of Bern, Freiburgstr. 3, 3010, Bern, Switzerland.; Swiss Institute for Translational and Entrepreneurial Medicine (Sitem-Insel), Freiburgstr. 3, 3010, Bern, Switzerland.
Gross ES; EURORDIS - Rare Diseases Europe, 96 Rue Didot, 75014, Paris, France.
Gumus G; EURORDIS - Rare Diseases Europe, 96 Rue Didot, 75014, Paris, France.
Mitova E; Institute for Rare Diseases, 22 Maestro G. Atanasov St., 4017, Plovdiv, Bulgaria.
Stefanov S; Institute for Rare Diseases, 22 Maestro G. Atanasov St., 4017, Plovdiv, Bulgaria.; Department of Epidemiology and Disaster Medicine, Faculty of Public Health, Medical University, 15A Vasil Aprilov Blvd., 4002, Plovdiv, Bulgaria.
Stefanov G; Institute for Rare Diseases, 22 Maestro G. Atanasov St., 4017, Plovdiv, Bulgaria.
Stefanov R; Institute for Rare Diseases, 22 Maestro G. Atanasov St., 4017, Plovdiv, Bulgaria.; Department of Social Medicine and Public Health, Faculty of Public Health, Medical University of Plovdiv, 15A Vasil Aprilov Blvd., 4002, Plovdiv, Bulgaria.; Pokaż więcej
Źródło:: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Jan 25; Vol. 19 (1), pp. 25. Date of Electronic Publication: 2024 Jan 25.
Typ publikacji:: Journal Article
MeSH Terms:: Rare Diseases*/diagnosis
Delivery of Health Care*
Humans ; Machine Learning ; Focus Groups ; Health Personnel

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Skocz do pozycji: 16.

Tytuł:: Advanced Cellular Models for Rare Disease Study: Exploring Neural, Muscle and Skeletal Organoids.
Autorzy:: Bombieri C; Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, 37134 Verona, Italy.
Corsi A; Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, 37134 Verona, Italy.
Trabetti E; Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, 37134 Verona, Italy.
Ruggiero A; Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, 37134 Verona, Italy.
Marchetto G; Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, 37134 Verona, Italy.
Vattemi G; Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, 37134 Verona, Italy.
Valenti MT; Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, 37134 Verona, Italy.
Zipeto D; Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, 37134 Verona, Italy.
Romanelli MG; Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, 37134 Verona, Italy.; Pokaż więcej
Źródło:: International journal of molecular sciences [Int J Mol Sci] 2024 Jan 13; Vol. 25 (2). Date of Electronic Publication: 2024 Jan 13.
Typ publikacji:: Journal Article; Review
MeSH Terms:: Rare Diseases*
Induced Pluripotent Stem Cells*
Animals ; Humans ; Organoids ; Genetic Engineering ; Muscles

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Skocz do pozycji: 17.

Tytuł:: Statistical recommendations for count, binary, and ordinal data in rare disease cross-over trials.
Autorzy:: Geroldinger M; Team Biostatistics and Big Medical Data, IDA Lab Salzburg, Paracelsus Medical University, Strubergasse 21, Salzburg, 5020, Austria. .; Department of Neurology, Christian Doppler Medical Centre, Full Member of European Reference Network on Rare and Complex Epilepsies EpiCARE, Paracelsus Medical University, Ignaz-Harrer Straße 79, Salzburg, 5020, Austria. .
Verbeeck J; I-BioStat, Hasselt University, Martelarenlaan 42, 3500, Hasselt, Belgium.
Hooker AC; Department of Pharmacy, Uppsala University, 751 24, Uppsala, Sweden.
Thiel KE; Team Biostatistics and Big Medical Data, IDA Lab Salzburg, Paracelsus Medical University, Strubergasse 21, Salzburg, 5020, Austria.
Molenberghs G; I-BioStat, Hasselt University, Martelarenlaan 42, 3500, Hasselt, Belgium.; I-BioStat, KU Leuven, Kapucijnenvoer 35, 3000, Leuven, Belgium.
Nyberg J; Department of Pharmacy, Uppsala University, 751 24, Uppsala, Sweden.
Bauer J; Department of Dermatology and Allergology, Paracelsus Medical University, Salzburg, 5020, Austria.; EB House Austria, Research Program for Molecular Therapy of Genodermatoses, Department of Dermatology and Allergology, University Hospital of the Paracelsus Medical University Salzburg, Salzburg, 5020, Austria.
Laimer M; Department of Dermatology and Allergology, Paracelsus Medical University, Salzburg, 5020, Austria.; EB House Austria, Research Program for Molecular Therapy of Genodermatoses, Department of Dermatology and Allergology, University Hospital of the Paracelsus Medical University Salzburg, Salzburg, 5020, Austria.
Wally V; EB House Austria, Research Program for Molecular Therapy of Genodermatoses, Department of Dermatology and Allergology, University Hospital of the Paracelsus Medical University Salzburg, Salzburg, 5020, Austria.
Bathke AC; Intelligent Data Analytics (IDA) Lab Salzburg, Department of Artificial Intelligence and Human Interfaces, University of Salzburg, Salzburg, 5020, Austria.
Zimmermann G; Team Biostatistics and Big Medical Data, IDA Lab Salzburg, Paracelsus Medical University, Strubergasse 21, Salzburg, 5020, Austria.; Pokaż więcej
Źródło:: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Dec 19; Vol. 18 (1), pp. 391. Date of Electronic Publication: 2023 Dec 19.
Typ publikacji:: Journal Article
MeSH Terms:: Rare Diseases*
Research Design*
Statistics as Topic*
Humans ; Cross-Over Studies ; Sample Size

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Skocz do pozycji: 18.

Tytuł:: QALYs and rare diseases: exploring the responsiveness of SF-6D, EQ-5D-5L and AQoL-8D following genomic testing for childhood and adult-onset rare genetic conditions in Australia.
Autorzy:: Pan T; Economics of Genomics and Precision Medicine Unit, Centre for Health Policy, Melbourne School of Population and Global Health, University of Melbourne, Parkville, Victoria, Australia.
Wu Y; Economics of Genomics and Precision Medicine Unit, Centre for Health Policy, Melbourne School of Population and Global Health, University of Melbourne, Parkville, Victoria, Australia.; Australian Genomics Health Alliance, Melbourne, Victoria, Australia.; Murdoch Children's Research Institute, Melbourne, Victoria, Australia.
Buchanan J; Health Economics Research Centre, University of Oxford, Oxford, United Kingdom.; Health Economics and Policy Research Unit, Queen Mary University of London, London, United Kingdom.
Goranitis I; Economics of Genomics and Precision Medicine Unit, Centre for Health Policy, Melbourne School of Population and Global Health, University of Melbourne, Parkville, Victoria, Australia. .; Australian Genomics Health Alliance, Melbourne, Victoria, Australia. .; Murdoch Children's Research Institute, Melbourne, Victoria, Australia. .; Pokaż więcej
Źródło:: Health and quality of life outcomes [Health Qual Life Outcomes] 2023 Dec 12; Vol. 21 (1), pp. 132. Date of Electronic Publication: 2023 Dec 12.
Typ publikacji:: Journal Article
MeSH Terms:: Quality of Life*/psychology
Rare Diseases*/diagnosis
Rare Diseases*/genetics
Child ; Adult ; Humans ; Surveys and Questionnaires ; Quality-Adjusted Life Years ; Australia ; Genetic Testing ; Psychometrics/methods

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Skocz do pozycji: 19.

Tytuł:: Prioritization of research engaged with rare disease stakeholders: a systematic review and thematic analysis.
Autorzy:: Yoon S; Asian Institute for Bioethics and Health Law, Yonsei University, Seodaemun-gu, Seoul, Republic of Korea.
Lee M; Simons Cancer Institute, Southern Illinois University School of Medicine, Springfield, IL, USA.
Jung HI; Preventive Dentistry and Public Oral Health, Yonsei University College of Dentistry, Seodaemun-gu, Seoul, Republic of Korea.
Khan MM; Department of Health Policy and Management, College of Public Health, University of Georgia, Athens, GA, USA.
Kim SY; Asian Institute for Bioethics and Health Law, Yonsei University, Seodaemun-gu, Seoul, Republic of Korea.; College of Medicine, Yonsei University, Seodaemun-gu, Seoul, Republic of Korea.
Kim H; Asian Institute for Bioethics and Health Law, Yonsei University, Seodaemun-gu, Seoul, Republic of Korea. .; College of Medicine, Yonsei University, Seodaemun-gu, Seoul, Republic of Korea. .
Wasti S; Asian Institute for Bioethics and Health Law, Yonsei University, Seodaemun-gu, Seoul, Republic of Korea.; Pokaż więcej
Źródło:: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Nov 23; Vol. 18 (1), pp. 363. Date of Electronic Publication: 2023 Nov 23.
Typ publikacji:: Systematic Review; Journal Article
MeSH Terms:: Rare Diseases*
Delivery of Health Care*
Humans

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Skocz do pozycji: 20.

Tytuł:: Experiences of coordinated care for people in the UK affected by rare diseases: cross-sectional survey of patients, carers, and healthcare professionals.
Autorzy:: Walton H; Department of Applied Health Research, University College London, Gower Street, London, WC1E 6BT, UK. .
Ng PL; Department of Applied Health Research, University College London, Gower Street, London, WC1E 6BT, UK.
Simpson A; Department of Applied Health Research, University College London, Gower Street, London, WC1E 6BT, UK.; Genetic Alliance UK, Creative Works, 7 Blackhorse Lane, London, E17 6DS, UK.
Bloom L; The Ehlers-Danlos Society and Academic Affiliate Professor of Practice in Patient Engagement and Global Collaboration (Penn State College of Medicine), Hershey, USA.
Chitty LS; North Thames Genomic Laboratory Hub, Great Ormond Street NHS Foundation Trust, London, UK.; UCL Great Ormond Street Institute of Child Health, London, UK.
Fulop NJ; Department of Applied Health Research, University College London, Gower Street, London, WC1E 6BT, UK.
Hunter A; Genetic Alliance UK, Creative Works, 7 Blackhorse Lane, London, E17 6DS, UK.
Jones J; Genetic Alliance UK, Creative Works, 7 Blackhorse Lane, London, E17 6DS, UK.
Kai J; Division of Primary Care, Centre for Academic Primary Care, NIHR School for Primary Care Research, University of Nottingham, Floors 13-15, Tower Building, University Park, Nottingham, NG7 2RD, UK.
Kerecuk L; Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.; NIHR Clinical Research Network West Midlands, Birmingham, UK.
Kokocinska M; Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.
Leeson-Beevers K; Alstrom Syndrome UK, 4 St Kitts Close, Torquay, TQ2 7GD, Devon, UK.
Parkes S; Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.
Ramsay AIG; Department of Applied Health Research, University College London, Gower Street, London, WC1E 6BT, UK.
Sutcliffe A; UCL and Great Ormond Street Institute of Child Health, 30 Guilford Street, London, WC1N 1EH, UK.
Taylor C; Department of Applied Health Research, University College London, Gower Street, London, WC1E 6BT, UK.
Morris S; Primary Care Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.; Pokaż więcej
Źródło:: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Nov 23; Vol. 18 (1), pp. 364. Date of Electronic Publication: 2023 Nov 23.
Typ publikacji:: Journal Article
MeSH Terms:: Caregivers*/psychology
Rare Diseases*/therapy
Adult ; Humans ; Cross-Sectional Studies ; United Kingdom ; Delivery of Health Care

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