Rare Disease Research Roadmap: Navigating the bioinformatics and translational challenges for improved patient health outcomes
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Matthew I. Bellgard | Christopher E. Mason | Alan H. Bittles | Gareth Baynam | Tarun Weeramanthri | Sue Fletcher | Jack Goldblatt | Callum J. Bell | Roberto A. Barrero | C. Mason | C. Bell | F. Guerrero | M. Sleeman | R. Barrero | M. Bellgard | Y. Rubinstein | G. Baynam | S. Groft | J. Goldblatt | T. Weeramanthri | A. Bittles | S. Wilton | S. Fletcher | Stephen C. Groft | Mark W. Sleeman | Felix D. Guerrero | Yaffa R. Rubinstein | Stephen D. Wilton
[1] Peter Saffrey,et al. Rapid Whole-Genome Sequencing for Genetic Disease Diagnosis in Neonatal Intensive Care Units , 2012, Science Translational Medicine.
[2] Youwen Zhou,et al. The US Orphan Drug Act: rare disease research stimulator or commercial opportunity? , 2010, Health policy.
[3] H. Hakonarson,et al. Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing , 2013, Genome Medicine.
[4] K. Getz,et al. Open innovation: the new face of pharmaceutical research and development , 2012, Expert review of clinical pharmacology.
[5] Damian Smedley,et al. The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data , 2014, Nucleic Acids Res..
[6] J. Bourke,et al. Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study , 2011, The Lancet.
[7] Christopher B. Forrest,et al. The case for a global rare-diseases registry , 2011, The Lancet.
[8] P. Claes,et al. Objective Monitoring of mTOR Inhibitor Therapy by Three-Dimensional Facial Analysis , 2013, Twin Research and Human Genetics.
[9] Maria Lluch,et al. Incentives for telehealthcare deployment that support integrated care: a comparative analysis across eight European countries , 2013, International journal of integrated care.
[10] D. Falconer. The Problem of Environment and Selection , 1952, The American Naturalist.
[11] 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.
[12] Adam Hunter,et al. Correction to Dispelling myths about rare disease registry system development [Source Code Biol Med, 8, (2013), 21] 10.1186/1751-0473-8-21, 24131574 , 2014 .
[13] Helen M. Moore,et al. An NCI perspective on creating sustainable biospecimen resources. , 2011, Journal of the National Cancer Institute. Monographs.
[14] Joanne Odenkirchen,et al. National Institute of Neurological Disorders and Stroke Common Data Element Project – approach and methods , 2012, Clinical trials.
[15] Christian Gieger,et al. Genetic variation in metabolic phenotypes: study designs and applications , 2012, Nature Reviews Genetics.
[16] Helen M. Moore,et al. Creating a global rare disease patient registry linked to a rare diseases biorepository database: Rare Disease-HUB (RD-HUB). , 2010, Contemporary clinical trials.
[17] Christophe Béroud,et al. Dispelling myths about rare disease registry system development , 2013, Source Code for Biology and Medicine.
[18] Adam Hunter,et al. Second generation registry framework , 2014, Source Code for Biology and Medicine.
[19] Hugo Y. K. Lam,et al. Personal Omics Profiling Reveals Dynamic Molecular and Medical Phenotypes , 2012, Cell.
[20] Matthew I. Bellgard,et al. A Bioinformatics Framework for plant pathologists to deliver global food security outcomes , 2011, Australasian Plant Pathology.
[21] S. Peltz,et al. Ataluren as an agent for therapeutic nonsense suppression. , 2013, Annual review of medicine.
[22] Matthew Bellgard,et al. The New Zealand Neuromuscular Disease Registry , 2012, Journal of Clinical Neuroscience.
[23] M. Field,et al. Rare Diseases and Orphan Products: Accelerating Research and Development , 2010 .
[24] S. Wilton,et al. RNA splicing manipulation: strategies to modify gene expression for a variety of therapeutic outcomes. , 2005, Current gene therapy.
[25] A. Bittles,et al. A Community-Based Study of Mucopolysaccharidosis Type VI in Brazil: The Influence of Founder Effect, Endogamy and Consanguinity , 2014, Human Heredity.
[26] David Cox,et al. Toward a roadmap in global biobanking for health , 2012, European Journal of Human Genetics.
[27] Kenny Q. Ye,et al. An integrated map of genetic variation from 1,092 human genomes , 2012, Nature.
[28] S. Groft. Rare diseases research: expanding collaborative translational research opportunities. , 2013, Chest.
[29] O. Drummer,et al. Review: Pharmacogenetic aspects of the effect of cytochrome P450 polymorphisms on serotonergic drug metabolism, response, interactions, and adverse effects , 2011, Forensic science, medicine, and pathology.
[30] Monya Baker,et al. Biorepositories: Building better biobanks , 2012, Nature.
[31] Gideon Koren,et al. The Canadian Pharmacogenomics Network for Drug Safety: a model for safety pharmacology. , 2010, Thyroid : official journal of the American Thyroid Association.
[32] M. Goldman,et al. The Innovative Medicines Initiative: A European Response to the Innovation Challenge , 2012, Clinical pharmacology and therapeutics.
[33] Michael Brudno,et al. PhenoTips: Patient Phenotyping Software for Clinical and Research Use , 2013, Human mutation.
[34] A. Bittles. Consanguinity in Context , 2012 .
[35] Sean Ekins,et al. A generalizable pre-clinical research approach for orphan disease therapy , 2012, Orphanet Journal of Rare Diseases.
[36] Claudia Hemmelmann,et al. Statistical analysis of rare sequence variants: an overview of collapsing methods , 2011, Genetic epidemiology.
[37] A. Vanderver,et al. Identification of a novel de novo p.Phe932Ile KCNT1 mutation in a patient with leukoencephalopathy and severe epilepsy. , 2014, Pediatric neurology.
[38] D. Goldstein. Common genetic variation and human traits. , 2009, The New England journal of medicine.
[39] A. Bittles,et al. Consanguinity, human evolution, and complex diseases , 2010, Proceedings of the National Academy of Sciences.
[40] Adam Hunter,et al. A modular approach to disease registry design: Successful adoption of an internet‐based rare disease registry , 2012, Human mutation.
[41] M. Daly,et al. Searching for missing heritability: Designing rare variant association studies , 2014, Proceedings of the National Academy of Sciences.
[42] J. Mendell,et al. Gentamicin‐induced readthrough of stop codons in duchenne muscular dystrophy , 2010, Annals of neurology.
[43] M. Field,et al. Rare Diseases and Orphan Products , 2010 .
[44] Stuart P. McElroy,et al. A Lack of Premature Termination Codon Read-Through Efficacy of PTC124 (Ataluren) in a Diverse Array of Reporter Assays , 2013, PLoS biology.
[45] J. Mendell,et al. Eteplirsen for the treatment of Duchenne muscular dystrophy , 2013, Annals of neurology.
[46] T. LaFramboise,et al. Single nucleotide polymorphism arrays: a decade of biological, computational and technological advances , 2009, Nucleic acids research.
[47] B. Knoppers,et al. Current trends in biobanking for rare diseases: a review , 2014 .
[48] Luigi Ferrucci,et al. Imputation of Variants from the 1000 Genomes Project Modestly Improves Known Associations and Can Identify Low-frequency Variant - Phenotype Associations Undetected by HapMap Based Imputation , 2013, PloS one.
[49] Ilona Miko. Epistasis: Gene Interactions and Phenotypic Effects , 2008 .
[50] Adam Hunter,et al. Yabi: An online research environment for grid, high performance and cloud computing , 2012, Source Code for Biology and Medicine.