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

The supportive care needs of parents with a child with a rare disease: results of an online survey

(2016) Lemuel J. Pelentsov et al.   BMC Family Practice

A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders

(2016) Zornitza Stark et al.   GENETICS IN MEDICINE

The NIH Undiagnosed Diseases Program and Network: Applications to modern medicine

(2016) William A. Gahl et al.   MOLECULAR GENETICS AND METABOLISM

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

(2016) Gareth Baynam et al.   Orphanet Journal of Rare Diseases

Survey of healthcare experiences of Australian adults living with rare diseases

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

Australian families living with rare disease: experiences of diagnosis, health services use and needs for psychosocial support

(2013) Matilda Anderson et al.   Orphanet Journal of Rare Diseases

The diagnostic odyssey to Rett syndrome: The experience of an Australian family

(2011) Marisa Knott et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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