Last Posted: Jun 17, 2020
- 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 - Genetics, diagnosis, management and future directions of research of phaeochromocytoma and paraganglioma: a position statement and consensus of the Working Group on endocrine hypertension of the European society of hypertension.
Lenders Jacques W M et al. Journal of hypertension 2020 May - Quality of life drives patients’ preferences for secondary findings from genomic sequencing
C Mighton et al, Eur J Hum Genet May 18, 2020 - Shortened consent forms for genome-wide sequencing: Parent and provider perspectives.
Hitchcock Emma C et al. Molecular genetics & genomic medicine 2020 May e1254 - Maternal copy-number variations in the DMD gene as secondary findings in noninvasive prenatal screening.
Brison Nathalie et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 21(12) 2774-2780 - Ubuntu philosophy and the consensus regarding incidental findings in genomic research: a heuristic approach.
Ewuoso Cornelius et al. Medicine, health care, and philosophy 2020 Apr - Cost-Effectiveness of Panel Tests for Multiple Pharmacogenes Associated With Adverse Drug Reactions: An Evaluation Framework.
Plumpton Catrin O et al. Clinical pharmacology and therapeutics 2019 105(6) 1429-1438 - Genetic screening of children with suspected inherited bleeding disorders.
Andersson Nadine G et al. Haemophilia : the official journal of the World Federation of Hemophilia 2020 Feb
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