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 New Age of -omics in Urothelial Cancer – Re-wording Its Diagnosis and Treatment

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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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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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Natural History, Trial Readiness and Gene Discovery: Advances in Patient Registries for Neuromuscular Disease

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Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework

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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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Congenital Myasthenic Syndromes or Inherited Disorders of Neuromuscular Transmission: Recent Discoveries and Open Questions

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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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Cytokine Profiling of Serum Allows Monitoring of Disease Progression in Inclusion Body Myositis

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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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BiobankUniverse: automatic matchmaking between datasets for biobank data discovery and integration

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A semantic-based workflow for biomedical literature annotation

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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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Progress in rare diseases research 2010-2016: an IRDiRC perspective

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Future of Rare Diseases Research 2017-2027: 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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Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains

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International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases

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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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3-Dimensional Facial Analysis—Facing Precision Public Health

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The UK Myotonic Dystrophy Patient Registry: facilitating and accelerating clinical research

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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]
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[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]
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[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]
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[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]

SCALEUS: Semantic Web Services Integration for Biomedical Applications

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[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]
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[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]
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[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]
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[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]
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[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]
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[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]
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[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]
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[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]
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[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]
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[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]
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[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]
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[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]
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[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]
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[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]
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[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]
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[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]
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[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]
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[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]
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[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]
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[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]
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[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]

The Quality of Rare Disease Registries: Evaluation and Characterization

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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]
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[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]

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]
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[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]
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[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]
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[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]
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[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]
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[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]
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[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]
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[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]
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[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]
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[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]
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[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]
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[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]
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[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]
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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]
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[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]
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[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]

Challenges and Opportunities for Exploring Patient-Level Data

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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]

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]
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[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]
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[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]
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[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]
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[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]
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[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]
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[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]
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[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]
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[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]
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[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]
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[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]
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[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]
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[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]
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[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]
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[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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DISim: Ontology-driven simulation of biomedical data integration tasks

Author(s): [types field=’authors’][/types]
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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]
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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]
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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]
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[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

Author(s): [types field=’authors’][/types]
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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]
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[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

Author(s): [types field=’authors’][/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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RecRWR: a recursive random walk method for improved identification of diseases

Author(s): [types field=’authors’][/types]
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Automatic concept recognition using the Human Phenotype Ontology reference and test suite corpora

Author(s): [types field=’authors’][/types]
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204th ENMC International Workshop on Biomarkers in Duchenne Muscular Dystrophy 24–26 January 2014, Naarden, The Netherlands

Author(s): [types field=’authors’][/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]
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[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]
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[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]
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[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]
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[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]
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[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]
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[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]
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[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]

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]

Second Generation Registry Framework

Author(s): [types field=’authors’][/types]
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[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]
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[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]
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[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]

Genetics and global healthcare

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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]
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[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]
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[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]
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[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]
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[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]
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[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

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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]

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]
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[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]
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[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]
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[types field=’doi-url’ title=’Go to publication’ target=’_blank’ class=”button”][/types]

The New Zealand Neuromuscular Disease Registry

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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

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Date: [types field=’publication-date’][/types]
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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]
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[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]
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Objective monitoring of mTOR inhibitor therapy by three-dimensional facial analysis

Author(s): [types field=’authors’][/types]
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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]
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[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

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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]

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]
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[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]
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[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]
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[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]
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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]
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[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]
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