Literature DB >> 29789698

Secondary findings in exome slices, virtual panels, and anticipatory sequencing.

Leslie G Biesecker1.   

Abstract

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Year:  2018        PMID: 29789698     DOI: 10.1038/s41436-018-0019-3

Source DB:  PubMed          Journal:  Genet Med        ISSN: 1098-3600            Impact factor:   8.822


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  5 in total

1.  Ethical Issues in Newborn Sequencing Research: The Case Study of BabySeq.

Authors:  Lainie Friedman Ross; Ellen Wright Clayton
Journal:  Pediatrics       Date:  2019-11-12       Impact factor: 7.124

2.  Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2021 update: a policy statement of the American College of Medical Genetics and Genomics (ACMG).

Authors:  David T Miller; Kristy Lee; Adam S Gordon; Laura M Amendola; Kathy Adelman; Sherri J Bale; Wendy K Chung; Michael H Gollob; Steven M Harrison; Gail E Herman; Ray E Hershberger; Teri E Klein; Kent McKelvey; C Sue Richards; Christopher N Vlangos; Douglas R Stewart; Michael S Watson; Christa Lese Martin
Journal:  Genet Med       Date:  2021-05-20       Impact factor: 8.822

Review 3.  Hypoglycaemia Metabolic Gene Panel Testing.

Authors:  Arianna Maiorana; Francesca Romana Lepri; Antonio Novelli; Carlo Dionisi-Vici
Journal:  Front Endocrinol (Lausanne)       Date:  2022-03-29       Impact factor: 5.555

4.  The role of exome sequencing in newborn screening for inborn errors of metabolism.

Authors:  Jennifer M Puck; Steven E Brenner; Aashish N Adhikari; Renata C Gallagher; Yaqiong Wang; Robert J Currier; George Amatuni; Laia Bassaganyas; Flavia Chen; Kunal Kundu; Mark Kvale; Sean D Mooney; Robert L Nussbaum; Savanna S Randi; Jeremy Sanford; Joseph T Shieh; Rajgopal Srinivasan; Uma Sunderam; Hao Tang; Dedeepya Vaka; Yangyun Zou; Barbara A Koenig; Pui-Yan Kwok; Neil Risch
Journal:  Nat Med       Date:  2020-08-10       Impact factor: 53.440

5.  Genetic testing for breast cancer risk, from BRCA1/2 to a seven gene panel: an ethical analysis.

Authors:  Erik Gustavsson; Giovanni Galvis; Niklas Juth
Journal:  BMC Med Ethics       Date:  2020-10-21       Impact factor: 2.652

  5 in total

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