Rare disease registries: a call to action

Australian children living with rare diseases: experiences of diagnosis and perceived consequences of diagnostic delays

(2017) Yvonne Zurynski et al.   Orphanet Journal of Rare Diseases

An International Framework for Data Sharing: Moving Forward with the Global Alliance for Genomics and Health

(2016) Vasiliki Rahimzadeh et al.   BIOPRESERVATION AND BIOBANKING

How to Identify Pathogenic Mutations among All Those Variations: Variant Annotation and Filtration in the Genome Sequencing Era

(2016) David Salgado et al.   HUMAN MUTATION

An International Framework for Data Sharing: Moving Forward with the Global Alliance for Genomics and Health

(2016) Vasiliki Rahimzadeh et al.   Biopreservation and Biobanking

The FAIR Guiding Principles for scientific data management and stewardship

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

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

(2015) Jessica X. Chong et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Exploring the landscape of pathogenic genetic variation in the ExAC population database: insights of relevance to variant classification

(2015) Wei Song et al.   GENETICS IN MEDICINE

The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery

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

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

A methodological framework for drug development in rare diseases

(2014) Patrice Nony et al.   Orphanet Journal of Rare Diseases

Australia makes up for lost time on rare diseases

(2012) Tony Kirby   LANCET

Key outcomes from stakeholder workshops at a symposium to inform the development of an Australian national plan for rare diseases

(2012) Caron Molster et al.   Orphanet Journal of Rare Diseases

Call for a national plan for rare diseases

(2009) Adam Jaffe et al.   JOURNAL OF PAEDIATRICS AND CHILD HEALTH

Rare childhood diseases: how should we respond?

(2008) Y Zurynski et al.   ARCHIVES OF DISEASE IN CHILDHOOD