Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework.
暂无分享,去创建一个
Faye L. Bowman | M. Brudno | T. Groza | J. Mattick | J. Beilby | S. Terry | C. Austin | P. Kaufmann | D. Taruscio | P. Robinson | F. McKenzie | M. Haendel | M. Suematsu | F. Alkuraya | P. Lasko | C. Tifft | W. Gahl | M. Cowley | N. Laing | M. Dinger | A. Olry | M. Hanauer | A. Rath | Hanns Lochmüller | T. Roscioli | K. Boycott | K. Kosaki | Rachel Thompson | G. Baynam | S. Groft | S. Broley | H. Dawkins | J. Goldblatt | C. Kiraly-Borri | N. Pachter | J. Slee | S. Townshend | D. Julkowska | I. Norstedt | Karla J. Lister | Caroline E Walker | T. Adachi | Ken Ishii | Trinity Mahede | C. Kiraly-Borri | Anand Vasudevan | A. Hawkins | L. Schofield | Hedwig Verhoef | A. Zankl | M. Posada de la Paz | K. Bushby | Victoria Hedley | K. Mina | Mark R. Davis | Y. le Cam | I. Eerola | Ruxandra Draghia-Akli | T. Weeramanthri | C. Molster | R. Draghia‐Akli | M. Davis | Cathy Kiraly-Borri | R. Thompson | Petra Kaufmann | Daria Julkowska
[1] M. Khoury,et al. A public health perspective on a national precision medicine cohort: balancing long-term knowledge generation with early health benefit. , 2015, JAMA.
[2] Damian Smedley,et al. Construction and accessibility of a cross-species phenotype ontology along with gene annotations for biomedical research , 2013, F1000Research.
[3] Euan A Ashley,et al. Clinical interpretation and implications of whole-genome sequencing. , 2014, JAMA.
[4] C. Austin,et al. The International Rare Diseases Research Consortium: Policies and Guidelines to maximize impact , 2017, European Journal of Human Genetics.
[5] S. Mundlos,et al. The Human Phenotype Ontology , 2010, Clinical genetics.
[6] W. Riley,et al. Precision Public Health for the Era of Precision Medicine. , 2016, American journal of preventive medicine.
[7] Orion J. Buske,et al. The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery , 2015, Human mutation.
[8] Simon Woods,et al. The risk of re-identification versus the need to identify individuals in rare disease research , 2016, European Journal of Human Genetics.
[9] Timo Lassmann,et al. The rare and undiagnosed diseases diagnostic service – application of massively parallel sequencing in a state-wide clinical service , 2016, Orphanet Journal of Rare Diseases.
[10] F. Stanley,et al. Case for mandatory fortification of food with folate in Australia, for the prevention of neural tube defects. , 2004, Birth defects research. Part A, Clinical and molecular teratology.
[11] James F. Thrasher,et al. The Integration of Genomics into Public Health Research, Policy and Practice in the United States , 2001, Public Health Genomics.
[12] S. Zubrick,et al. The collective impact of rare diseases in Western Australia: an estimate using a population-based cohort , 2016, Genetics in Medicine.
[13] F. Dhombres,et al. Representation of rare diseases in health information systems: The orphanet approach to serve a wide range of end users , 2012, Human mutation.
[14] J. Goldblatt,et al. The Impact of Single Gene and Chromosomal Disorders on Hospital Admissions of Children and Adolescents: A Population-Based Study , 2010, Public Health Genomics.
[15] P. Hammond,et al. Large‐scale objective phenotyping of 3D facial morphology , 2012, Human mutation.
[16] Christine M. Cutillo,et al. Future of Rare Diseases Research 2017–2027: An IRDiRC Perspective , 2017, Clinical and translational science.
[17] H. Dawkins,et al. Blueprint for a deliberative public forum on biobanking policy: were theoretical principles achievable in practice? , 2013, Health expectations : an international journal of public participation in health care and health policy.
[18] F. Bianchi,et al. Primary Prevention of Congenital Anomalies: Recommendable, Feasible and Achievable , 2015, Public Health Genomics.
[19] Steven J. M. Jones,et al. FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project. , 2014, American journal of human genetics.
[20] Makoto Suematsu,et al. Japan’s initiative on rare and undiagnosed diseases (IRUD): towards an end to the diagnostic odyssey , 2017, European Journal of Human Genetics.
[21] C. Tifft,et al. The NIH Undiagnosed Diseases Program: lessons learned. , 2011, JAMA.
[22] G. Baynam. The need for genetic studies of Indigenous Australians , 2012, The Medical journal of Australia.
[23] Timo Lassmann,et al. Reference genotype and exome data from an Australian Aboriginal population for health-based research , 2016, Scientific Data.
[24] S. Mallal,et al. HLA-B*5701 screening for hypersensitivity to abacavir. , 2008, The New England journal of medicine.
[25] B. Fernandez,et al. Utility of whole‐exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care , 2015, Clinical genetics.
[26] Tudor Groza,et al. Phenotyping: Targeting genotype's rich cousin for diagnosis , 2014, Journal of paediatrics and child health.
[27] Eric J Topol,et al. Individualized Medicine from Prewomb to Tomb , 2014, Cell.
[28] B. Knoppers,et al. Current trends in biobanking for rare diseases: a review , 2014 .
[29] H. Dawkins,et al. Awakening Australia to Rare Diseases: Symposium report and preliminary outcomes , 2011, Orphanet journal of rare diseases.
[30] Leslie G Biesecker,et al. Next‐generation sequencing demands next‐generation phenotyping , 2012, Human mutation.
[31] F. Alkuraya,et al. Increasing the sensitivity of clinical exome sequencing through improved filtration strategy , 2016, Genetics in Medicine.
[32] Peter Szolovits,et al. Genetic Misdiagnoses and the Potential for Health Disparities. , 2016, The New England journal of medicine.
[33] Michael Brudno,et al. PhenomeCentral: A Portal for Phenotypic and Genotypic Matchmaking of Patients with Rare Genetic Diseases , 2015, Human mutation.
[34] P. Claes,et al. The Facial Evolution: Looking Backward and Moving Forward , 2013, Human mutation.
[35] Peter N. Robinson,et al. The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease , 2015, American journal of human genetics.
[36] J. Charrow,et al. Increased Wnt and Notch signaling: a clue to the renal disease in Schimke immuno-osseous dysplasia? , 2016, Orphanet Journal of Rare Diseases.
[37] A. J. Bass,et al. A decade of data linkage in Western Australia: strategic design, applications and benefits of the WA data linkage system. , 2008, Australian health review : a publication of the Australian Hospital Association.
[38] J. Goldblatt,et al. The impact of single gene and chromosomal disorders on hospital admissions in an adult population , 2011, Journal of Community Genetics.
[39] Magalie S Leduc,et al. Molecular findings among patients referred for clinical whole-exome sequencing. , 2014, JAMA.
[40] François Schiettecatte,et al. OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders , 2014, Nucleic Acids Res..
[41] P. Robinson,et al. RD-Connect: An Integrated Platform Connecting Databases, Registries, Biobanks and Clinical Bioinformatics for Rare Disease Research , 2014, Journal of General Internal Medicine.
[42] P. Claes,et al. Objective Monitoring of mTOR Inhibitor Therapy by Three-Dimensional Facial Analysis , 2013, Twin Research and Human Genetics.
[43] Christine M. Cutillo,et al. Progress in Rare Diseases Research 2010–2016: An IRDiRC Perspective , 2017, Clinical and translational science.
[44] M. Khoury,et al. The continuum of translation research in genomic medicine: how can we accelerate the appropriate integration of human genome discoveries into health care and disease prevention? , 2007, Genetics in Medicine.
[45] Simon Woods,et al. International Charter of principles for sharing bio-specimens and data , 2014, European Journal of Human Genetics.
[46] S. Wilton,et al. RNA splicing manipulation: strategies to modify gene expression for a variety of therapeutic outcomes. , 2005, Current gene therapy.
[47] W. Chung,et al. Clinical application of whole-exome sequencing across clinical indications , 2015, Genetics in Medicine.
[48] Michael Brudno,et al. PhenoTips: Patient Phenotyping Software for Clinical and Research Use , 2013, Human mutation.
[49] Caron Molster,et al. Survey of healthcare experiences of Australian adults living with rare diseases , 2016, Orphanet Journal of Rare Diseases.
[50] In-Hee Lee,et al. Prioritizing Disease‐Linked Variants, Genes, and Pathways with an Interactive Whole‐Genome Analysis Pipeline , 2014, Human mutation.
[51] Caron Molster,et al. Key outcomes from stakeholder workshops at a symposium to inform the development of an Australian national plan for rare diseases , 2012, Orphanet Journal of Rare Diseases.
[52] Simon Woods,et al. Rare diseases and now rare data? , 2013, Nature Reviews Genetics.
[53] Y. Zurynski,et al. Call for a national plan for rare diseases , 2010, Journal of paediatrics and child health.
[54] P. Robinson,et al. The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease. , 2008, American journal of human genetics.
[55] Ó. Zurriaga,et al. Rare diseases epidemiology research. , 2010, Advances in experimental medicine and biology.
[56] H. Dawkins,et al. An Australian Approach to the Policy Translation of Deliberated Citizen Perspectives on Biobanking , 2011, Public Health Genomics.
[57] K. Boycott,et al. Rare-disease genetics in the era of next-generation sequencing: discovery to translation , 2013, Nature Reviews Genetics.
[58] Peter N. Robinson,et al. Deep phenotyping for precision medicine , 2012, Human mutation.
[59] Tudor Groza,et al. The Human Phenotype Ontology in 2017 , 2016, Nucleic Acids Res..
[60] S. Fullerton,et al. Using Genetic Technologies To Reduce, Rather Than Widen, Health Disparities. , 2016, Health affairs.
[61] F. Alkuraya,et al. Revisiting the morbid genome of Mendelian disorders , 2016, Genome Biology.
[62] W. Gahl. The Battlefield of Rare Diseases: Where Uncommon Insights Are Common , 2012, Science Translational Medicine.
[63] Muin J Khoury,et al. Planning for the Future of Epidemiology in the Era of Big Data and Precision Medicine. , 2015, American journal of epidemiology.
[64] Christopher P Austin,et al. ‘IRDiRC Recognized Resources': a new mechanism to support scientists to conduct efficient, high-quality research for rare diseases , 2016, European Journal of Human Genetics.
[65] Petra Helmholz,et al. 3-Dimensional Facial Analysis—Facing Precision Public Health , 2017, Front. Public Health.
[66] Gorazd Rudolf,et al. Phenotype-driven gene target definition in clinical genome-wide sequencing data interpretation , 2016, Genetics in Medicine.
[67] F. Stanley,et al. Trends in neural tube defects in Western Australia in Indigenous and non-Indigenous populations. , 2004, Paediatric and perinatal epidemiology.
[68] S. Groft,et al. Rare diseases - avoiding misperceptions and establishing realities: the need for reliable epidemiological data. , 2010, Advances in experimental medicine and biology.
[69] Daniel R. Masys,et al. News from the NIH: potential contributions of the behavioral and social sciences to the precision medicine initiative , 2015, Translational behavioral medicine.
[70] B. Knoppers,et al. Extending the reach of public health genomics: What should be the agenda for public health in an era of genome-based and “personalized” medicine? , 2010, Genetics in Medicine.
[71] Simon Woods,et al. ‘You should at least ask’. The expectations, hopes and fears of rare disease patients on large-scale data and biomaterial sharing for genomics research , 2016, European Journal of Human Genetics.
[72] Domenica Taruscio,et al. Undiagnosed Diseases Network International (UDNI): White paper for global actions to meet patient needs. , 2015, Molecular genetics and metabolism.
[73] Ana Rath,et al. WHO International Classification of Diseases (ICD) Revision Process: incorporating rare diseases into the classification scheme: state of art , 2010, Orphanet Journal of Rare Diseases.
[74] Chad A Shaw,et al. Molecular Diagnostic Experience of Whole-Exome Sequencing in Adult Patients , 2015, Genetics in Medicine.
[75] R. Valdez,et al. Public Health and Rare Diseases: Oxymoron No More , 2016, Preventing chronic disease.
[76] Michael Q. Zhang,et al. Integrative analysis of 111 reference human epigenomes , 2015, Nature.
[77] A. Jaffe. Orphan lung diseases in childhood: still unadopted? , 2005, Thorax.
[78] Ana Rath,et al. Rare diseases in ICD11: making rare diseases visible in health information systems through appropriate coding , 2015, Orphanet Journal of Rare Diseases.
[79] K. Flanigan,et al. Targeted Exon Skipping to Correct Exon Duplications in the Dystrophin Gene , 2014, Molecular therapy. Nucleic acids.