Last Posted: Sep 04, 2020
- Metabolic Serendipities of Expanded Newborn Screening.
Yahyaoui Raquel et al. Genes 2020 Aug 11(9)
- Vulnerable Child Syndrome and Newborn Screening Carrier Results for Cystic Fibrosis or Sickle Cell.
Farrell Michael H et al. The Journal of pediatrics 2020 Sep 22444-50.e1
- Health-care practitioners’ preferences for the return of secondary findings from next-generation sequencing: a discrete choice experiment
S Jiang et al, Genetics in Medicine, AUgust 21, 2020
- Frequency and spectrum of actionable pathogenic secondary findings in Taiwanese exomes.
Kuo Chieh-Wen et al. Molecular genetics & genomic medicine 2020 Aug e1455
- Pitfalls in the Diagnosis of Hereditary Fructose Intolerance.
Kim Alexander Y et al. Pediatrics 2020 Jul
- Participant choices for return of genomic results in the eMERGE Network
C Howell et al, Genetics in Medicine, July 16 2020
- Differences in Conceptual Understanding of the "Actionability" of Incidental Findings and the Resultant Difference in Ethical Responsibility: An Empirical Study in Japan.
Ibuki Tomohide et al. AJOB empirical bioethics 2020 Jul 1-8
- Frequency of genomic secondary findings among 21,915 eMERGE network participants
Emerge Working Group, Genetics in Medicine, June 17, 2020
- Whole-Exome Sequencing-Based Approach for Germline Mutations in Patients with Inborn Errors of Immunity.
Okano Tsubasa et al. Journal of clinical immunology 2020 Jun
- A structural variation reference for medical and population genetics.
Collins Ryan L et al. Nature 2020 May 581(7809) 444-451
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