Last Posted: Sep 30, 2017
- Sharon Terry: When Siblings Get A Rare Diagnosis, Can Their Parents Find the Cure?
National Public Radio, Sep 29, 2017
- The Promise of Precision Health: Siennas Story
Genome Canada Video, Sep 2017
- NHGRI researchers and collaborators identify Noonan syndrome in diverse people Highly accurate facial analysis software aids diagnosis
Jeannine Mjoseth, NHGRI, Sep 15, 2017
- Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy.
Harris Elizabeth et al. Orphanet journal of rare diseases 2017 Sep 12(1) 151
- Integrated Genomic Medicine: A Paradigm for Rare Diseases and Beyond.
Schork N J et al. Advances in genetics 2017 9781-113
- Future of Rare Diseases Research 2017-2027: an IRDiRC Perspective
Austin Christopher P et al. Clinical and translational science 2017 Aug
- Settling the score: variant prioritization and Mendelian disease
K Eilbeck et al, Nature Rev Genetics, August 2017
- Future of Rare Diseases Research 20172027: an IRDiRC Perspective
CP Austin, Clin Trans Science, August 10, 2017
- European Reference networks for rare diseases: what is the conceptual framework?
Héon-Klin Véronique et al. Orphanet journal of rare diseases 2017 Aug 12(1) 137
- The ethical framework for performing research with rare inherited neurometabolic disease patients.
Giannuzzi Viviana et al. European journal of pediatrics 2017 Mar 176(3) 395-405
- Application of whole-exome sequencing to direct the specific functional testing and diagnosis of rare inherited bleeding disorders in patients from the Öresund Region, Scandinavia.
Leinøe Eva et al. British journal of haematology 2017 Jul
- Development of newborn screening connect (NBS connect): a self-reported patient registry and its role in improvement of care for patients with inherited metabolic disorders.
Osara Yetsa et al. Orphanet journal of rare diseases 2017 Jul 12(1) 132
- Recommendations for the inclusion of Fabry disease as a rare febrile condition in existing algorithms for fever of unknown origin.
Manna Raffaele et al. Internal and emergency medicine 2017 Jul
- Direct-to-Consumer Genetic Testing and Orphan Drug Development.
Mason Matthew et al. Genetic testing and molecular biomarkers 2017 Jul
- Japans initiative on rare and undiagnosed diseases (IRUD): towards an end to the diagnostic odyssey
T Adachi et al, Eur J Human Genetics, July 5, 2017
- In a medical first, long read DNA sequencing solves a diagnostic mystery
S Begley, StatNews, June 22, 2017