Last Posted: May 11, 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
- International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases
KM Boycott et al, AJHG, May 4, 2017
- Life with a Rare Genetic Disease: The Science, the Suffering and the Hope
M Angrist, New York Times, April 28, 2017
- When even genome sequencing does not provide a diagnosis.
Tech Review, April 2017
- Massive-scale genomic data sharing to improve rare disease diagnosis
D MacArthu8r VIDEO presentation, Scripps Institute, Future of Genomic Medicine 2017
- Improving genetic diagnosis in Mendelian disease with transcriptome sequencing
BB Cummings et al, Sci Trans Med, April 19, 2017
- Searching for a diagnosis: a network of doctors tries to solve medical mysteries
A Gorman, Stat News, April 20, 2017
- ApreciseKUre: an approach of Precision Medicine in a Rare Disease.
Spiga Ottavia et al. BMC medical informatics and decision making 2017 Apr 17(1) 42
- Parent training education program: a pilot study, involving families of children with Prader-Willi syndrome.
Kodra Yllka et al. Annali dell'Istituto superiore di sanita 52(3) 428-433
- Facial recognition software helps diagnose rare genetic disease
NHGRI, March 2017
- Where lost diseases go.
Proto Magazine, March 2017
- Newborn screening for Tyrosinemia type 1 using succinylacetone - a systematic review of test accuracy.
Stinton Chris et al. Orphanet journal of rare diseases 2017 Mar 12(1) 48
- Advice from the Rare Disease Community
Genome Magazine, February 28, 2017