Scientific publications
A list of publications arising out of or useful for RD-Connect work is provided below. For further details on each publication, click its title.
The Italian neuromuscular registry: a coordinated platform where patient organizations and clinicians collaborate for data collection and multiple usage
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Meeting Patients’ Right to the Correct Diagnosis: Ongoing International Initiatives on Undiagnosed Rare Diseases and Ethical and Social Issues
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GNE myopathy in the Bedouin population of Kuwait: Genetics, prevalence and clinical description
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Clinical variability of early-onset congenital myasthenic syndrome due to biallelic RAPSN mutations in Brazil
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Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease
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Recommendations for Improving the Quality of Rare Disease Registries
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Privacy-Preserving Linkage of Genomic and Clinical Data Sets
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Allelic phenotype values: a model for genotype-based phenotype prediction in phenylketonuria
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Transcriptional profiling and biomarker identification reveal tissue specific effects of expanded ataxin-3 in a spinocerebellar ataxia type 3 mouse model
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GFPT1 deficiency in muscle leads to myasthenia and myopathy in mice
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SpainUDP: The Spanish Undiagnosed Rare Diseases Program
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VarAFT: a variant annotation and filtration system for human next generation sequencing data
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GNE myopathy: from clinics and genetics to pathology and research strategies
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Recessive variants of MuSK are associated with late onset CMS and predominant limb girdle weakness
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MECP2 variation in Rett syndrome—An overview of current coverage of genetic and phenotype data within existing databases
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Tracking disease progression non‐invasively in Duchenne and Becker muscular dystrophies
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Research protocol: The initiation, design and establishment of the Global Angelman Syndrome Registry
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Mutational spectrum of PTS gene and in silico pathological assessment of a novel variant in Mexico
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New workflow for classification of genetic variants’ pathogenicity applied to hereditary recurrent fevers by the International Study Group for Systemic Autoinflammatory Diseases (INSAID)
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New workflow for classification of genetic variants’ pathogenicity applied to hereditary recurrent fevers by the International Study Group for Systemic Autoinflammatory Diseases (INSAID)
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Whole-exome sequencing identifies mutations in MYMK in a mild form of Carey-Fineman-Ziter syndrome
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RD-Connect, NeurOmics and EURenOmics: collaborative European initiative for rare diseases
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The Beta-Adrenergic Agonist Salbutamol Modulates Neuromuscular Junction Formation in Zebrafish Models of Human Myasthenic Syndromes
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Cross‐sectional serum metabolomic study of multiple forms of muscular dystrophy
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The RD-Connect Registry & Biobank Finder: a tool for sharing aggregated data and metadata among rare disease researchers
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The New Age of -omics in Urothelial Cancer – Re-wording Its Diagnosis and Treatment
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A common CHRNE mutation in Brazilian patients with congenital myasthenic syndrome
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A novel mechanism causing imbalance of mitochondrial fusion and fission in human myopathies
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Text-based phenotypic profiles incorporating biochemical phenotypes of inborn errors of metabolism improve phenomics-based diagnosis
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Clinical and research strategies for limb-girdle congenital myasthenic syndromes
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DNAJC12 deficiency: A new strategy in the diagnosis of hyperphenylalaninemias
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Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework
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Natural History, Trial Readiness and Gene Discovery: Advances in Patient Registries for Neuromuscular Disease
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COEUS 2.0: An automated platform to integrate and publish biomedical data as nanopublications
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Evaluation of serum MMP-9 as predictive biomarker for antisense therapy in Duchenne
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Congenital myasthenic syndrome with episodic apnoea: clinical, neurophysiological and genetic features in the long‑term follow‑up of 19 patients
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Cytokine Profiling of Serum Allows Monitoring of Disease Progression in Inclusion Body Myositis
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Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database
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Congenital Myasthenic Syndromes or Inherited Disorders of Neuromuscular Transmission: Recent Discoveries and Open Questions
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The International Rare Diseases Research Consortium: Policies and Guidelines to maximize impact
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Ashkenazi Jewish genomic variants: integrating data from the Israeli National Genetic Database and gnomAD
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A semantic-based workflow for biomedical literature annotation
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BiobankUniverse: automatic matchmaking between datasets for biobank data discovery and integration
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Book chapter: Genomic Databases: Emerging Tools for Molecular Diagnostics
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Book chapter: Pharmacogenomics in Clinical Care and Drug Discovery
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Linked Registries: Connecting Rare Diseases Patient Registries through a Semantic Web Layer
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Whole transcriptome analysis of human erythropoietic cells during ontogenesis suggests a role of VEGFA gene as modulator of fetal hemoglobin and pharmacogenomic biomarker of treatment response to hydroxyurea in beta-type hemoglobinopathy patients
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Intersection of Proteomics and Genomics to “Solve the Unsolved” in Rare Disorders such as Neurodegenerative and Neuromuscular Diseases
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Chronic pain has a strong impact on quality of life in facioscapulohumeral muscular dystrophy
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MEGF10 related myopathies: A new case with adult onset disease with prominent respiratory failure and review of reported phenotypes
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DNAJC12 and dopa-responsive nonprogressive parkinsonism
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Design of the Familial Hypercholesterolaemia Australasia Network Registry: Creating Opportunities for Greater International Collaboration
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Drosophila studies support a role for a presynaptic synaptotagmin mutation in a human congenital myasthenic syndrome
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How to responsibly acknowledge research work in the era of big data and biobanks: ethical aspects of the Bioresource Research Impact Factor (BRIF)
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Translocation of molecular chaperones to the titin springs is common in skeletal myopathy patients and affects sarcomere function
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Comprehending the Health Informatics Spectrum: Grappling with System Entropy and Advancing Quality Clinical Research
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Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy
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Molecular characterization of congenital myasthenic syndromes in Spain
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Future of Rare Diseases Research 2017-2027: an IRDiRC Perspective
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Progress in rare diseases research 2010-2016: an IRDiRC perspective
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Heterogeneous clinical spectrum of DNAJC12-deficient hyperphenylalaninemia: from attention deficit to severe dystonia and intellectual disability
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Exploring public genomics data for population pharmacogenomics
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A web-based, patient driven registry for Angelman syndrome: the global Angelman syndrome registry
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Knowledge base and mini-expert platform for the diagnosis of inborn errors of metabolism
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Application of the DruGeVar Database in Cancer Genomics and Pharmacogenomics
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MRC Centre Neuromuscular Biobank (Newcastle and London): Supporting and facilitating rare and neuromuscular disease research worldwide
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A ‘second truncation’ in TTN causes early onset recessive muscular dystrophy
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Respiratory involvement in ambulant and non-ambulant patients with facioscapulohumeral muscular dystrophy
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Altered tetrahydrobiopterin metabolism in patients with phenylalanine hydroxylase deficiency
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International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases
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Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains
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Biobanking: towards increased access of biomaterials in cystic fibrosis. Report on the pre-conference meeting to the 13th ECFS Basic Science Conference, Pisa, 30 March-2 April, 2016
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Intragenic DOK7 deletion detected by whole-genome sequencing in congenital myasthenic syndromes
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Interoperability and FAIRness through a novel combination of Web technologies
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The UK Myotonic Dystrophy Patient Registry: facilitating and accelerating clinical research
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3-Dimensional Facial Analysis—Facing Precision Public Health
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The Israeli National Genetic database: a 10-year experience
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Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment
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[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
Genetic heterogeneity of motor neuropathies
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
Generation of an iPSC line from a patient with GTP cyclohydrolase 1 (GCH1) deficiency: HDMC0061i-GCH1
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
Outcomes of an International Workshop on Preconception Expanded Carrier Screening: Some Considerations for Governments
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
SCALEUS: Semantic Web Services Integration for Biomedical Applications
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
Dynamic Consent: a potential solution to some of the challenges of modern biomedical research
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
Reduced serum myostatin concentrations associated with genetic muscle disease progression
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
MASTR-MS: a web-based collaborative laboratory information management system (LIMS) for metabolomics
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
A Web-Based Registry for Familial Hypercholesterolaemia
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
Sleepiness and Sleep-related Breathing Disorders in Myotonic Dystrophy and Responses to Treatment: A Prospective Cohort Study
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
The Human Phenotype Ontology in 2017
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
Association Study of Exon Variants in the NF-kB and TGFb Pathways Identifies CD40 as a Modifier of Duchenne Muscular Dystrophy
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
Translational development of splice-modifying antisense oligomers
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
Correlation of SIN3A genomic variants with beta-hemoglobinopathies disease severity and hydroxyurea treatment efficacy
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
CRISPR RNA-guided FokI nucleases repair a PAH variant in a phenylketonuria model
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
Generation of an iPSC line from a patient with tyrosine hydroxylase (TH) deficiency: TH-1 iPSC.
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
Expanded national database collection and data coverage in the FINDbase worldwide database for clinically relevant genomic variation allele frequencies
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
WES/WGS Reporting of Mutations from Cardiovascular “Actionable” Genes in Clinical Practice: A Key Role for UMD Knowledgebases in the Era of Big Databases
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
How to Identify Pathogenic Mutations among All Those Variations: Variant Annotation and Filtration in the Genome Sequencing Era
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
Actionable Genes, Core Databases, and Locus-Specific Databases
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
A European Spectrum of Pharmacogenomic Biomarkers: Implications for Clinical Pharmacogenomics
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
From Wet-Lab to Variations: Concordance and Speed of Bioinformatics Pipelines for Whole Genome and Whole Exome Sequencing
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
ePGA: A Web-Based Information System for Translational Pharmacogenomics
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
In vitro residual activity of phenylalanine hydroxylase variants and correlation with metabolic phenotypes in PKU
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
Big Data Governance: Solidarity and the Patient Voice
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
Common disease signatures from gene expression analysis in Huntington’s disease human blood and brain
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
Integration of targeted metabolomics and transcriptomics identifies deregulation of phosphatidylcholine metabolism in Huntington’s disease peripheral blood samples
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
MOLGENIS/connect: a system for semi-automatic integration of heterogeneous phenotype data with applications in biobanks
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
CARGO: effective format-free compressed storage of genomic information
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
Feedback of Individual Genetic Results to Research Participants: Is It Feasible in Europe?
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
The risk of re-identification versus the need to identify individuals in rare disease research
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
Overview of existing initiatives to develop and improve access and data sharing in rare disease registries and biobanks worldwide
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
Design, set-up and utility of the UK facioscapulohumeral muscular dystrophy patient registry
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
‘You should at least ask’. The expectations, hopes and fears of rare disease patients on large-scale data and biomaterial sharing for genomics research
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
Limb-girdle muscular dystrophies – international collaborations for translational research
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
The Quality of Rare Disease Registries: Evaluation and Characterization
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
KLHL40-related nemaline myopathy with a sustained, positive response to treatment with acetylcholinesterase inhibitors
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
Comparative mass spectrometric and immunoassay-based proteome analysis in serum of Duchenne muscular dystrophy patients
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
A knowledge federation architecture for rare disease patient registries and biobanks
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
Genetics of Phenylketonuria: Then and Now
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
The Implicitome: A Resource for Rationalizing Gene-Disease Associations
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
Genomic variants in the ASS1 gene, involved in the nitric oxide biosynthesis and signaling pathway, predict hydroxyurea treatment efficacy in compound sickle cell disease/beta-thalassemia patients
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
Improving the informed consent process in international collaborative rare disease research: effective consent for effective research
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
UMD-Predictor: A High-Throughput Sequencing Compliant System for Pathogenicity Prediction of any Human cDNA Substitution
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
Long-term follow-up in patients with congenital myasthenic syndrome due to RAPSN mutations
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
Autologous skeletal muscle derived cells expressing a novel functional dystrophin provide a potential therapy for Duchenne Muscular Dystrophy
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
Consent Codes: Upholding Standard Data Use Conditions
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
Sympathetic innervation controls homeostasis of neuromuscular junctions in health and disease
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
Co-expression of phenylalanine hydroxylase variants and effects of interallelic complementation on in vitro enzyme activity and genotype-phenotype correlation
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
Functional Analysis of an A γ-Globin Gene Promoter Variant (HBG1: g.-225_-222delAGCA) Underlines Its Role in Increasing Fetal Hemoglobin Levels Under Erythropoietic Stress
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
Chemical entity recognition in patents by combining dictionary-based and statistical approaches
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
Identification of novel, therapy responsive protein biomarkers in a mouse model of Duchenne muscular dystrophy by aptamerbased serum proteomics
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
Identification of a novel homozygous SPG7 mutation by whole exome sequencing in a Greek family with a complicated form of hereditary spastic paraplegia
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
Electrophysiologic features of SYT2 mutations causing a treatable neuromuscular syndrome
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
Global N-linked Glycosylation is Not Significantly Impaired in Myoblasts in Congenital Myasthenic Syndromes Caused by Defective Glutamine-Fructose-6-Phosphate Transaminase 1 (GFPT1)
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
An automated real-time integration and interoperability framework for bioinformatics
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
Challenges and Opportunities for Exploring Patient-Level Data
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
Long-term disease progression in spinocerebellar ataxia types 1, 2, 3, and 6: a longitudinal cohort study
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
Muscle-Derived Proteins as Serum Biomarkers for Monitoring Disease Progression in Three Forms of Muscular Dystrophy
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
Meta-Analysis of Genes in Commercially Available Nutrigenomic Tests Denotes Lack of Association with Dietary Intake and Nutrient-Related Pathologies
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
Genetic, environmental, and epigenetic factors involved in CAKUT.
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
Multidisciplinary collaboration to facilitate hypotheses generation in Huntington’s Disease
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
Congenital Myasthenic Syndromes with Predominant Limb Girdle Weakness
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
The implications of metabotypes for rationalizing therapeutics in infants and children
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
Looking Forward to New Therapies: A Personal Perspective on the Translational Landscape for Muscular Dystrophies
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
GNE myopathy in Roma patients homozygous for the p.I618T founder mutation
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
From Peer-Reviewed to Peer-Reproduced in Scholarly Publishing: The Complementary Roles of Data Models and Workflows in Bioinformatics
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
The European Genome-phenome Archive of human data consented for biomedical research
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
Phenotypic variability of TRPV4 related neuropathies
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
Mutational spectrum and phenotypic variability of VCP-related neurological disease in the UK
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approach
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
Towards a knowledge federation of linked patient registries
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[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
DISim: Ontology-driven simulation of biomedical data integration tasks
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[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
Recessive Mutations in the α3(VI) Collagen Gene COL6A3 Cause Early-Onset Isolated Dystonia.
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
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[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
Genotype/phenotype correlations in AARS-related neuropathy in a cohort of patients from the United Kingdom and Ireland
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
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[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
Integration-as-a-service for bioinformatics
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
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[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
An alignment-free method to find and visualise rearrangements between pairs of DNA sequences
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
Freedom of Choice About Incidental Findings Can Frustrate Participants’ True Preferences
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
A germline MTOR mutation in Aboriginal Australian siblings with intellectual disability, dysmorphism, macrocephaly, and small thoraces.
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
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[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
Three minimal sequences found in Ebola virus genomes and absent from human DNA
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
Whole genome sequencing in pharmacogenomics
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[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
The Challenge for a European Network of Biobanks for Rare Diseases Taken up by RD-Connect
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
A 3′-UTR mutation creates a microRNA target site in the GFPT1 gene of patients with congenital myasthenic syndrome
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
Linking genotypes database with locus-specific database and genotype–phenotype correlation in phenylketonuria
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
Nanopublications for exposing experimental data in the life-sciences: a Huntington’s Disease case study
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
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[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
The TREAT-NMD DMD Global database: Analysis of More Than 7000 Duchenne Muscular Dystrophy Mutations
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
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[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
Gateways to the FANTOM5 promoter level mammalian expression atlas
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Date: [types field=’publication-date’][/types]
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[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
A Semantic Layer for Unifying and Exploring Biomedical Document Curation Results
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
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[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
An Event-Driven Architecture for Biomedical Data Integration and Interoperability
Author(s): [types field=’authors’][/types]
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[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
RecRWR: a recursive random walk method for improved identification of diseases
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
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[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
Automatic concept recognition using the Human Phenotype Ontology reference and test suite corpora
Author(s): [types field=’authors’][/types]
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[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
204th ENMC International Workshop on Biomarkers in Duchenne Muscular Dystrophy 24–26 January 2014, Naarden, The Netherlands
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
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[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
The EuroBioBank Network: Ten years of hands-on experience of collaborative, transnational biobanking for rare diseases
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variants
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
Rare Disease Research Roadmap: Navigating the bioinformatics and translational challenges for improved patient health outcomes
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
Current trends in biobanking for rare diseases: a review
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
BBMRI-ERIC as a resource for pharmaceutical and life science industries: the development of biobank-based Expert Centres
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
The impact of integrated omics technologies for patients with rare diseases
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
Long-term follow-up in patients with CCFDN syndrome
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
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[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
International Charter of principles for sharing bio-specimens and data
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
National registries of rare diseases in Europe: an overview of the current situation and experiences
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
Synaptotagmin 2 Mutations Cause an Autosomal-Dominant Form of Lambert-Eaton Myasthenic Syndrome and Nonprogressive Motor Neuropathy
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
ANO10 mutations cause ataxia and coenzyme Q10 deficiency
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
Explain your data by Concept Profile Analysis Web Services
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
RD-Connect: An Integrated Platform Connecting Databases, Registries, Biobanks and Clinical Bioinformatics for Rare Disease Research
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
Mutation Update and Genotype–Phenotype Correlations of Novel and Previously Described Mutations in TPM2 and TPM3 Causing Congenital Myopathies
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
Molecular genetics and diagnosis of phenylketonuria: state of the art
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
Second Generation Registry Framework
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
Affinity proteomics within rare diseases: a BIO-NMD study for blood biomarkers of muscular dystrophies.
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
A Nanopublishing Architecture for Biomedical Data
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
Genetics and global healthcare
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Date: [types field=’publication-date’][/types]
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[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
Mutations in the Collagen XII gene define a new form of extracellular matrix related myopathy
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
Rare disease research: Breaking the privacy barrier
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
The current situation and needs of rare disease registries in europe
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
A model for the European platform for rare disease registries
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
Fibronectin is a serum biomarker for Duchenne muscular dystrophy
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
Developments in FINDbase worldwide database for clinically relevant genomic variation allele frequencies
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
Preserving sequence annotations across reference sequences
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
Setting up strategies: patient inclusion in biobank and genomics research in Europe
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
An innovative portal for rare genetic diseases research: The semantic Diseasecard
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
The New Zealand Neuromuscular Disease Registry
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
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[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
Clinical applications of next-generation sequencing: the 2013 human genome variation society scientific meeting
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
Dispelling myths about rare disease registry system development
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
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[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
Incidental findings: the time is not yet ripe for a policy for biobanks
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
Informing public health policy through deliberative public engagement: perceived impact on participants and citizen–government relations
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
Objective monitoring of mTOR inhibitor therapy by three-dimensional facial analysis
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
PhenoTips: patient phenotyping software for clinical and research use
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
Role of international registries in enhancing the care of familial hypercholesterolaemia
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
Rare diseases need global solutions: new international initiatives in rare disease omics research
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
Rare diseases and now rare data?
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
Patients would benefit from simplified ethical review and consent procedure
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
The facial evolution: looking backward and moving forward
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
COEUS: “semantic web in a box” for biomedical applications
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
EPIRARE survey on activities and needs of rare disease registries in the European Union
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
A modular approach to disease registry design: successful adoption of an internet-based rare disease registry
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
Key outcomes from stakeholder workshops at a symposium to inform the development of an Australian national plan for rare diseases
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
Yabi: An online research environment for grid, high performance and cloud computing
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
Biobanking in rare disorders
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
The role of biobanking in rare diseases: European consensus expert group report
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
Creating a global rare disease patient registry linked to a rare diseases biorepository database: Rare Disease-HUB (RD-HUB)
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
International network of cancer genome projects
Author(s): [types field=’authors’][/types]
Date: [types field=’publication-date’][/types]
Journal: [types field=’journal’][/types]
[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]
