Last Posted: May 18, 2017
A novel 33-Gene targeted resequencing panel provides accurate, clinical-grade diagnosis and improves patient management for rare inherited anaemias.
Roy Noémi B A et al. British journal of haematology 2016 Oct 175(2) 318-330
After four years, it took a geneticist a few hours to unravel a boys puzzling illness
A Bond, Stat News, May 16, 2017
Australian children living with rare diseases: experiences of diagnosis and perceived consequences of diagnostic delays.
Zurynski Yvonne et al. Orphanet journal of rare diseases 2017 Apr 12(1) 68
Design and Implementation of the Hepatorenal Fibrocystic Disease Core Center Clinical Database: A Centralized Resource for Characterizing Autosomal Recessive Polycystic Kidney Disease and Other Hepatorenal Fibrocystic Diseases.
Alzarka Bakri et al. Frontiers in pediatrics 2017 580
Initiating an undiagnosed diseases program in the Western Australian public health system.
Baynam Gareth et al. Orphanet journal of rare diseases 2017 May 12(1) 83
International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases.
Boycott Kym M et al. American journal of human genetics 2017 May 100(5) 695-705
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