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

New sequencing technologies

(2013) Ivo Glynne Gut   Clinical & Translational Oncology

PhenoTips: Patient Phenotyping Software for Clinical and Research Use

(2013) Marta Girdea et al.   HUMAN MUTATION

Predictors of phenotypic progression and disease onset in premanifest and early-stage Huntington's disease in the TRACK-HD study: analysis of 36-month observational data

(2013) Sarah J Tabrizi et al.   LANCET NEUROLOGY

Patients would benefit from simplified ethical review and consent procedure

(2013) Mats G Hansson et al.   LANCET ONCOLOGY

Translating the Genomics Revolution: The Need for an International Gene Therapy Consortium for Monogenic Diseases

(2013) Jacques P Tremblay et al.   MOLECULAR THERAPY

Open to interpretation

(2013)   NATURE BIOTECHNOLOGY

Reproducibility of high-throughput mRNA and small RNA sequencing across laboratories

(2013) Peter A C 't Hoen et al.   NATURE BIOTECHNOLOGY

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

COEUS: “semantic web in a box” for biomedical applications

(2013) Pedro Lopes et al.   Journal of Biomedical Semantics

Microattribution and nanopublication as means to incentivize the placement of human genome variation data into the public domain

(2012) George P. Patrinos et al.   HUMAN MUTATION

Representation of rare diseases in health information systems: The orphanet approach to serve a wide range of end users

(2012) Ana Rath et al.   HUMAN MUTATION

Sharing Heterogeneous Data: The National Database for Autism Research

(2012) Dan Hall et al.   NEUROINFORMATICS

ELIXIR: a distributed infrastructure for European biological data

(2012) Lindsey C. Crosswell et al.   TRENDS IN BIOTECHNOLOGY

LOVD v.2.0: the next generation in gene variant databases

(2011) Ivo F. A. C. Fokkema et al.   HUMAN MUTATION

Comprehensive catalog of European biobanks

(2011) H-Erich Wichmann et al.   NATURE BIOTECHNOLOGY

Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach

(2011) Belinda Giardine et al.   NATURE GENETICS

The Role of Biobanking in Rare Diseases: European Consensus Expert Group Report

(2010) Hanns Lochmüller et al.   BIOPRESERVATION AND BIOBANKING

Comparative demographics of the European cystic fibrosis population: a cross-sectional database analysis

(2010) Jonathan McCormick et al.   LANCET

Public data archives for genomic structural variation

(2010) Deanna M Church et al.   NATURE GENETICS

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

(2009) Helen V. Firth et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Structuring and extracting knowledge for the support of hypothesis generation in molecular biology

(2009) Marco Roos et al.   BMC BIOINFORMATICS

UMD-predictor, a new prediction tool for nucleotide substitution pathogenicity-application to four genes:FBN1,FBN2,TGFBR1, andTGFBR2

(2009) Mélissa Yana Frédéric et al.   HUMAN MUTATION

Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase

(2009) Sylvie Tuffery-Giraud et al.   HUMAN MUTATION

Interventions for muscular dystrophy: molecular medicines entering the clinic

(2009) Kate Bushby et al.   LANCET