The RD-Connect Registry & Biobank Finder: a tool for sharing aggregated data and metadata among rare disease researchers

Challenges and Driving Forces for Business Plans in Biobanking

(2017) Tanja Macheiner et al.   Biopreservation and Biobanking

Biobanking Comes of Age: The Transition to Biospecimen Science

(2016) Jim Vaught   Annual Review of Pharmacology and Toxicology

BBMRI-ERIC Directory: 515 Biobanks with Over 60 Million Biological Samples

(2016) Petr Holub et al.   BIOPRESERVATION AND BIOBANKING

The risk of re-identification versus the need to identify individuals in rare disease research

(2016) Mats G Hansson et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Improving the informed consent process in international collaborative rare disease research: effective consent for effective research

(2016) Sabina Gainotti et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Data sharing: An open mind on open data

(2016) Virginia Gewin   NATURE

Sharing Clinical Trial Data — A Proposal from the International Committee of Medical Journal Editors

(2016) Darren B. Taichman et al.   NEW ENGLAND JOURNAL OF MEDICINE

Avoiding Data Dumpsters — Toward Equitable and Useful Data Sharing

(2016) Laura Merson et al.   NEW ENGLAND JOURNAL OF MEDICINE

The Human Phenotype Ontology in 2017

(2016) Sebastian Köhler et al.   NUCLEIC ACIDS RESEARCH

BBMRI-ERIC Directory: 515 Biobanks with Over 60 Million Biological Samples

(2016) Petr Holub et al.   Biopreservation and Biobanking

New and emerging targeted therapies for cystic fibrosis

(2016) Bradley S Quon et al.   BMJ-British Medical Journal

Consent Codes: Upholding Standard Data Use Conditions

(2016) Stephanie O. M. Dyke et al.   PLoS Genetics

New and emerging targeted therapies for cystic fibrosis

(2016) Bradley S Quon et al.   BMJ-British Medical Journal

Overview of existing initiatives to develop and improve access and data sharing in rare disease registries and biobanks worldwide

(2016) Estrella López et al.   Expert Opinion on Orphan Drugs

The FAIR Guiding Principles for scientific data management and stewardship

(2016) Mark D. Wilkinson et al.   Scientific Data

Developing a guideline to standardize the citation of bioresources in journal articles (CoBRA)

(2015) Elena Bravo et al.   BMC Medicine

Human genotype–phenotype databases: aims, challenges and opportunities

(2015) Anthony J. Brookes et al.   NATURE REVIEWS GENETICS

The Challenge for a European Network of Biobanks for Rare Diseases Taken up by RD-Connect

(2015) Lucia Monaco et al.   PATHOBIOLOGY

Phenotyping: Targeting genotype's rich cousin for diagnosis

(2015) Gareth Baynam et al.   JOURNAL OF PAEDIATRICS AND CHILD HEALTH

International Charter of principles for sharing bio-specimens and data

(2014) Deborah Mascalzoni et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseases

(2014) Marina Mora et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

BBMRI-ERIC as a resource for pharmaceutical and life science industries: the development of biobank-based Expert Centres

(2014) Gert-Jan B van Ommen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

RD-Connect: An Integrated Platform Connecting Databases, Registries, Biobanks and Clinical Bioinformatics for Rare Disease Research

(2014) Rachel Thompson et al.   JOURNAL OF GENERAL INTERNAL MEDICINE

Towards a European platform for Rare Diseases Registries

(2014) Ciarán Nicholl   Orphanet Journal of Rare Diseases

The Current Situation and Needs of Rare Disease Registries in Europe

(2014) D. Taruscio et al.   Public Health Genomics

Public Biobanks: Calculation and Recovery of Costs

(2014) B. Clement et al.   Science Translational Medicine

The impact of integrated omics technologies for patients with rare diseases

(2014) Louise Johnston et al.   Expert Opinion on Orphan Drugs

Molecular Therapeutic Strategies for Spinal Muscular Atrophies: Current and Future Clinical Trials

(2013) Chiara Zanetta et al.   CLINICAL THERAPEUTICS

PhenoTips: Patient Phenotyping Software for Clinical and Research Use

(2013) Marta Girdea et al.   HUMAN MUTATION

Rare-disease genetics in the era of next-generation sequencing: discovery to translation

(2013) Kym M. Boycott et al.   NATURE REVIEWS GENETICS

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

(2013) Sebastian Köhler et al.   NUCLEIC ACIDS RESEARCH

Telethon Network of Genetic Biobanks: a key service for diagnosis and research on rare diseases

(2013) Mirella Filocamo et al.   Orphanet Journal of Rare Diseases

Biobanks need publicity

(2011) George Gaskell et al.   NATURE

Who Shares? Who Doesn't? Factors Associated with Openly Archiving Raw Research Data

(2011) Heather A. Piwowar   PLoS One

Creating a global rare disease patient registry linked to a rare diseases biorepository database: Rare Disease-HUB (RD-HUB)

(2010) Yaffa R. Rubinstein et al.   Contemporary Clinical Trials

Care for patients with ultra-rare disorders

(2010) Raoul CM. Hennekam   European Journal of Medical Genetics

Linked Data - The Story So Far

(2010) Christian Bizer et al.   International Journal on Semantic Web and Information Systems

Data sharing: Empty archives

(2009) Bryn Nelson   NATURE