RD-Connect, NeurOmics and EURenOmics: collaborative European initiative for rare diseases

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

(2018) Sabina Gainotti et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The International Rare Diseases Research Consortium: Policies and Guidelines to maximize impact

(2017) Hanns Lochmüller et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The Phenotypic Spectrum of Nephropathies Associated with Mutations in Diacylglycerol Kinaseε

(2017) Karolis Azukaitis et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Long-Term Outcome of Steroid-Resistant Nephrotic Syndrome in Children

(2017) Agnes Trautmann et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Follow-up results of patients with ADCK4 mutations and the efficacy of CoQ10 treatment

(2017) Mustafa Atmaca et al.   PEDIATRIC NEPHROLOGY

Huntington’s disease blood and brain show a common gene expression pattern and share an immune signature with Alzheimer’s disease

(2017) Davina J. Hensman Moss et al.   Scientific Reports

Low renal but high extrarenal phenotype variability in Schimke immuno-osseous dysplasia

(2017) Beata S. Lipska-Ziętkiewicz et al.   PLoS One

‘IRDiRC Recognized Resources’: a new mechanism to support scientists to conduct efficient, high-quality research for rare diseases

(2016) Hanns Lochmüller et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The collective impact of rare diseases in Western Australia: an estimate using a population-based cohort

(2016) Caroline E. Walker et al.   GENETICS IN MEDICINE

Motor neuron mitochondrial dysfunction in spinal muscular atrophy

(2016) Nimrod Miller et al.   HUMAN MOLECULAR GENETICS

UMD-Predictor: A High-Throughput Sequencing Compliant System for Pathogenicity Prediction of any Human cDNA Substitution

(2016) David Salgado et al.   HUMAN MUTATION

Observations of a large Dent disease cohort

(2016) Anne Blanchard et al.   KIDNEY INTERNATIONAL

Complement gene variants determine the risk of immunoglobulin-associated MPGN and C3 glomerulopathy and predict long-term renal outcome

(2016) Paraskevas Iatropoulos et al.   MOLECULAR IMMUNOLOGY

The Human Phenotype Ontology in 2017

(2016) Sebastian Köhler et al.   NUCLEIC ACIDS RESEARCH

Antisense oligonucleotide-mediated exon skipping as a strategy to reduce proteolytic cleavage of ataxin-3

(2016) Lodewijk J. A. Toonen et al.   Scientific Reports

The FAIR Guiding Principles for scientific data management and stewardship

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

ePGA: A Web-Based Information System for Translational Pharmacogenomics

(2016) Kleanthi Lakiotaki et al.   PLoS One

Spectrum of Steroid-Resistant and Congenital Nephrotic Syndrome in Children: The PodoNet Registry Cohort

(2015) A. Trautmann et al.   Clinical Journal of the American Society of Nephrology

The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery

(2015) Anthony A. Philippakis et al.   HUMAN MUTATION

Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia

(2015) K. P. Schlingmann et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

ADCK4-Associated Glomerulopathy Causes Adolescence-Onset FSGS

(2015) E. Korkmaz et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

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

Genotype–phenotype associations in WT1 glomerulopathy

(2014) Beata S. Lipska et al.   KIDNEY INTERNATIONAL

Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome

(2014) Florian Recker et al.   PEDIATRIC NEPHROLOGY

PhenoTips: Patient Phenotyping Software for Clinical and Research Use

(2013) Marta Girdea et al.   HUMAN MUTATION

Common noncoding UMOD gene variants induce salt-sensitive hypertension and kidney damage by increasing uromodulin expression

(2013) Matteo Trudu et al.   NATURE MEDICINE

Human Pluripotent Stem Cell Differentiation into Authentic Striatal Projection Neurons

(2013) Alessia Delli Carri et al.   Stem Cell Reviews and Reports

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

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

(2009) François-Olivier Desmet et al.   NUCLEIC ACIDS RESEARCH