Last Posted: Jan 06, 2019
- Research Focus: beyond the 100 000 genomes
G Watts, The Lancet, January 2019 - Integrating Genomics into Healthcare: A Global Responsibility
Z Stark et al, AJHG, January 3, 2019 - Clinical application of chromosomal microarray analysis for the diagnosis of Williams-Beuren syndrome in Chinese Han patients.
Xia Yu et al. Molecular genetics & genomic medicine 2018 Dec - Genetic variations in familial hypercholesterolemia and cascade screening in East Asians.
Chan Melody Lok-Yi et al. Molecular genetics & genomic medicine 2018 Dec - Should pretest genetic counselling be required for patients pursuing genomic sequencing? Results from a survey of participants in a large genomic implementation study.
Pacyna Joel E et al. Journal of medical genetics 2018 Dec - Genetics and genomics in Peru: Clinical and research perspective.
Guio Heinner et al. Molecular genetics & genomic medicine 2018 Nov 6(6) 873-886 - All the reasons 2018 was a breakout year for DNA data
A Regalado, MIT Tech Review, December 29, 2018 - Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy
MA Corbett et al,. NPJ Genomic Medicine, Decemeber 2018 - Clinical implementation of gene panel testing for lysosomal storage diseases.
Gheldof Alexander et al. Molecular genetics & genomic medicine 2018 Dec - Effective communication in the era of precision medicine: A pilot intervention with low health literacy patients to improve genetic counseling communication.
Joseph Galen et al. European journal of medical genetics 2018 Dec
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