Last Posted: May 08, 2020
- Use of Real-World Evidence in US Payer Coverage Decision-Making for Next-Generation Sequencing–Based Tests: Challenges, Opportunities, and Potential Solutions
P Deverka et al, Value in Health, May 2020 - Assessing the strength of evidence for genes implicated in fatty acid oxidation disorders using the ClinGen clinical validity framework.
McGlaughon Jennifer L et al. Molecular genetics and metabolism 128(1-2) 122-128 - Clinical perspectives in congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase type 2 deficiency.
Al Alawi Abdullah M et al. Endocrine 2019 63(3) 407-421 - Diagnostic Yield of an Algorithm for Neonatal and Infantile Cholestasis Integrating Next-Generation Sequencing.
Nicastro Emanuele et al. The Journal of pediatrics 2019 21154-62.e4 - Interchromosomal effect in carriers of translocations and inversions assessed by preimplantation genetic testing for structural rearrangements (PGT-SR).
Mateu-Brull E et al. Journal of assisted reproduction and genetics 2019 Dec 36(12) 2547-2555 - New epigenomic and genomic frontiers in personalized medicine: direct customer testing, are we ready?
Dolcini Jacopo et al. Epidemiologia e prevenzione 43(4) 295-299 - Barriers and facilitators to dissemination and adoption of precision medicine among Hispanics/Latinos.
Canedo Juan R et al. BMC public health 2020 May 20(1) 603 - European citizens' perspectives on direct-to-consumer genetic testing: an updated systematic review.
Hoxhaj Ilda et al. European journal of public health 2020 May - Familial screening in case of acute myocarditis reveals inherited arrhythmogenic left ventricular cardiomyopathies.
Piriou Nicolas et al. ESC heart failure 2020 May - FUNCTIONAL AND GENETIC TESTING IN ADULTS WITH HLH DO NOT REVEAL A CYTOTOXICITY DEFECT BUT RATHER AN INFLAMMATORY PROFILE.
Carvelli Julien et al. Blood 2020 Apr
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