Towards efficiency in rare disease research: what is distinctive and important?

Development of the SIOPE DIPG network, registry and imaging repository: a collaborative effort to optimize research into a rare and lethal disease

(2017) Sophie E. M. Veldhuijzen van Zanten et al.   JOURNAL OF NEURO-ONCOLOGY

Waardenburg syndrome: a rare cause of inherited neuropathy due to SOX10 mutation

(2017) Petya Bogdanova-Mihaylova et al.   JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

Industrializing rare disease therapy discovery and development

(2017) Sean Ekins   NATURE BIOTECHNOLOGY

Data Quality in Rare Cancers Registration: The Report of the RARECARE Data Quality Study

(2017) Annalisa Trama et al.   TUMORI

Data Quality in Rare Cancers Registration: The Report of the RARECARE Data Quality Study

(2017) Annalisa Trama et al.   TUMORI JOURNAL

Making Every Subject Count: A Case Study of Drug Development Path for Medication in a Pediatric Rare Disease

(2016) I Bhattacharya et al.   CLINICAL PHARMACOLOGY & THERAPEUTICS

The availability and affordability of orphan drugs for rare diseases in China

(2016) Shiwei Gong et al.   Orphanet Journal of Rare Diseases

Integrated transcriptome analysis of human iPS cells derived from a fragile X syndrome patient during neuronal differentiation

(2016) Ping Lu et al.   Science China-Life Sciences

Current approaches to reduce or eliminate mitochondrial DNA mutations

(2016) Liang Yang et al.   Science China-Life Sciences

The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease

(2015) Tudor Groza et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Rare disease policies to improve care for patients in Europe

(2015) Charlotte Rodwell et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

NIH/NCATS/GRDR® Common Data Elements: A leading force for standardized data collection

(2015) Yaffa R. Rubinstein et al.   Contemporary Clinical Trials

Translating rare-disease therapies into improved care for patients and families: what are the right outcomes, designs and engagement approaches in health-systems research?

(2015) Beth K. Potter et al.   GENETICS IN MEDICINE

The Disease Ontology: fostering interoperability between biological and clinical human disease-related data

(2015) Lynn M. Schriml et al.   MAMMALIAN GENOME

Precision medicine for metastatic breast cancer—limitations and solutions

(2015) Monica Arnedos et al.   Nature Reviews Clinical Oncology

A New Initiative on Precision Medicine

(2015) Francis S. Collins et al.   NEW ENGLAND JOURNAL OF MEDICINE

Early stages of building a rare disease registry, methods and 2010 data from the Belgian Neuromuscular Disease Registry (BNMDR)

(2014) Anna J. Roy et al.   ACTA NEUROLOGICA BELGICA

Towards building a disease-phenotype knowledge base: extracting disease-manifestation relationship from literature

(2013) R. Xu et al.   BIOINFORMATICS

Implementation of a population-based epidemiological rare disease registry: study protocol of the amyotrophic lateral sclerosis (ALS) - registry Swabia

(2013) Gabriele Nagel et al.   BMC Neurology

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

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

Rare diseases and now rare data?

(2013) Deborah Mascalzoni et al.   NATURE REVIEWS GENETICS

Orphan drugs: the regulatory environment

(2012) Pedro Franco   DRUG DISCOVERY TODAY

Preparing for Precision Medicine

(2012) Reza Mirnezami et al.   NEW ENGLAND JOURNAL OF MEDICINE

If you build a rare disease registry, will they enroll and will they use it? Methods and data from the National Registry of Myotonic Dystrophy (DM) and Facioscapulohumeral Muscular Dystrophy (FSHD)

(2011) James E. Hilbert et al.   Contemporary Clinical Trials

The quality of preventive health care delivered to adults: results from a cross-sectional study in Southern Italy

(2010) Benedetto Manuti et al.   BMC PUBLIC HEALTH

Francis Collins

(2010)   NATURE REVIEWS DRUG DISCOVERY

The US Orphan Drug Act: Rare disease research stimulator or commercial opportunity?

(2009) Olivier Wellman-Labadie et al.   HEALTH POLICY