Last Posted: Feb 11, 2019
- Information and genetic counselling for psychiatric risks in children with rare disorders
A Cuthbert et al, BioRXIV, February 2019
- Exome sequencing in clinical settings: preferences and experiences of parents of children with rare diseases (SEQUAPRE study).
Chassagne Aline et al. European journal of human genetics : EJHG 2019 Feb
- Hemophilia carrier's awareness, diagnosis, and management in emerging countries: a cross-sectional study in Côte d'Ivoire (Ivory Coast).
Lambert Catherine et al. Orphanet journal of rare diseases 2019 Feb 14(1) 26
- Incidental screen positive findings in a prospective cohort study in Matlab, Bangladesh: insights into expanded newborn screening for low-resource settings.
Murphy Malia S Q et al. Orphanet journal of rare diseases 2019 Jan 14(1) 25
- With time ticking away, clinicians scramble to save newborn twins from the disease that took their brother
R Robbins, Stat News, February 5, 2019
- One In a Million
University of Utah, 2019
- Recommendations for patient screening in ultra-rare inherited metabolic diseases: what have we learned from Niemann-Pick disease type C?
Sobrido María-Jesús et al. Orphanet journal of rare diseases 2019 Jan 14(1) 20
- Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
Kishnani Priya S et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Jan
- The added value of WES reanalysis in the field of genetic diagnosis: lessons learned from 200 exomes in the Lebanese population
N Jalkh et al, BMC Medical Genomics, January 22, 2019
- UK Biobank Dataset Helps Elucidate Pathogenicity of Rare Genetic Variants
GenomeWeb, January 17, 2019