The rare and undiagnosed diseases diagnostic service – application of massively parallel sequencing in a state-wide clinical service

Survey of healthcare experiences of Australian adults living with rare diseases

(2016) Caron Molster et al.   Orphanet Journal of Rare Diseases

Reference genotype and exome data from an Australian Aboriginal population for health-based research

(2016) Dave Tang et al.   Scientific Data

A germlineMTORmutation in Aboriginal Australian siblings with intellectual disability, dysmorphism, macrocephaly, and small thoraces

(2015) Gareth Baynam et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Clinical application of whole-exome sequencing across clinical indications

(2015) Kyle Retterer et al.   GENETICS IN MEDICINE

Undiagnosed Diseases Network International (UDNI): White paper for global actions to meet patient needs

(2015) Domenica Taruscio et al.   MOLECULAR GENETICS AND METABOLISM

Automatic concept recognition using the Human Phenotype Ontology reference and test suite corpora

(2015) T. Groza et al.   Database-The Journal of Biological Databases and Curation

Clinical whole-exome sequencing: are we there yet?

(2014) Paldeep Singh Atwal et al.   GENETICS IN MEDICINE

Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

(2014) Yaping Yang et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders

(2014) Hane Lee et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Rare diseases: what's next?

(2008) Giuseppe Remuzzi et al.   LANCET

Why rare diseases are an important medical and social issue

(2008) Arrigo Schieppati et al.   LANCET