1 in 38 individuals at risk of a dominant medically actionable disease-Reference-Cited by-同舟云学术

1 in 38 individuals at risk of a dominant medically actionable disease

Published:2018-10-05 Issue:2 Volume:27 Page:325-330
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Haer-Wigman Lonneke,van der Schoot Vyne,Feenstra Ilse,Vulto-van Silfhout Anneke T.,Gilissen Christian^ORCID,Brunner Han G.,Vissers Lisenka E. L. M.,Yntema Helger G.

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/s41431-018-0284-2.pdf

Reference23 articles.

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3. Vears DF, Senecal K, Clarke AJ, et al. Points to consider for laboratories reporting results from diagnostic genomic sequencing. Eur J Hum Genet. 2018;26:36–43.

4. Wouters RHP, Bijlsma RM, Frederix GWJ, et al. Is it our duty to hunt for pathogenic mutations? Trends Mol Med. 2018;24:3–6.

5. Amendola LM, Dorschner MO, Robertson PD, et al. Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res. 2015;25:305–15.

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