Exome sequencing for structurally normal fetuses—yields and ethical issues-Reference-Cited by-同舟云学术

Exome sequencing for structurally normal fetuses—yields and ethical issues

Published:2022-09-07 Issue:2 Volume:31 Page:164-168
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Daum Hagit^ORCID,Harel Tamar,Millo Talya^ORCID,Eilat Avital,Fahham Duha,Gershon-Naamat Shiri,Basal Adily,Rosenbluh Chaggai,Yanai Nili,Porat Shay,Kabiri Doron,Yagel Simcha,Valsky Dan V.,Elpeleg Orly,Meiner Vardiella,Mor-Shaked Hagar^ORCID

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

https://www.nature.com/articles/s41431-022-01169-9.pdf

Reference40 articles.

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2. Lee H, Deignan JL, Dorrani N, Strom SP, Kantarci S, Quintero-Rivera F, et al. Clinical exome sequencing for genetic identification of rare Mendelian disorders. JAMA. 2014;312:1880–7.

3. Hengel H, Buchert R, Sturm M, Haack TB, Schelling Y, Mahajnah M, et al. First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery. Eur J Hum Genet. 2020;28:1034–43.

4. Lord J, McMullan DJ, Eberhardt RY, Rinck G, Hamilton SJ, Quinlan-Jones E, et al. Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study. Lancet. 2019;393:747–57.

5. Petrovski S, Aggarwal V, Giordano JL, Stosic M, Wou K, Bier L, et al. Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study. Lancet. 2019;393:758–67.

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