An spanish study of secondary findings in families affected with mendelian disorders: choices, prevalence and family history-Reference-Cited by-同舟云学术

An spanish study of secondary findings in families affected with mendelian disorders: choices, prevalence and family history

Published:2022-11-29 Issue:2 Volume:31 Page:223-230
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Codina-Solà Marta,Trujillano Laura,Abulí Anna,Rovira-Moreno Eulàlia,Muñoz-Cabello Patricia,Campos Berta^ORCID,Fernández-Álvarez Paula,Palau Dolors,Carrasco Estela,Valenzuela Irene^ORCID,Cueto-González Anna Maria.^ORCID,Lasa-Aranzasti Amaia,Limeres Javier^ORCID,Leno-Colorado Jordi^ORCID,Costa-Roger Mar^ORCID,Moles-Fernández Alejandro,Balmaña Judith^ORCID,Díez Orland,Cuscó Ivon,Garcia-Arumí Elena,Tizzano Eduardo Fidel

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

https://www.nature.com/articles/s41431-022-01240-5.pdf

Reference44 articles.

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3. Miller DT, Lee K, Gordon AS, Amendola LM, Adelman K, Bale SJ, et al. 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). Genet Med. 2021:1391–8. https://www.nature.com/articles/s41436-021-01171-4.

4. Miller DT, Lee K, Abul-Husn NS, Amendola LM, Brothers K, Chung WK, et al. ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2022;24:1407–14. https://linkinghub.elsevier.com/retrieve/pii/S1098360022007237.

5. de Wert G, Dondorp W, Clarke A, Dequeker EMC, Cordier C, Deans Z, et al. Opportunistic genomic screening. Recommendations of the European Society of Human Genetics. Eur J Hum Genet. 2021;29:365–77. http://www.nature.com/articles/s41431-020-00758-w.

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