https://doi.org/10.1038/ejhg.2015.57
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Carla van El
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Carla van El is an academic researcher from Amsterdam University Medical Centers. The author has contributed to research in topics: BRCA gene mutations in cancer & Ethics in Clinical Research & Genomics and Rare Diseases. The author has an h-index of 25, co-authored 87 publications.
ORCID: 0000-0003-2201-2320Papers by this author
worksNon-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening
2015 · European Journal of Human Genetics · 350 citations
European recommendations integrating genetic testing into multidisciplinary management of sudden cardiac death
2019 · European Journal of Human Genetics · 113 citations
https://doi.org/10.1038/s41431-019-0445-y
The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice
2021 · European Journal of Human Genetics · 88 citations
https://doi.org/10.1038/s41431-021-01000-x
Responsible innovation in human germline gene editing: Background document to the recommendations of ESHG and ESHRE
2018 · European Journal of Human Genetics · 65 citations
https://doi.org/10.1038/s41431-017-0077-z
Stakeholder Views on Active Cascade Screening for Familial Hypercholesterolemia
2018 · Healthcare · 23 citations
https://doi.org/10.3390/healthcare6030108
Severely impaired health status at diagnosis of Pompe disease: A cross-sectional analysis to explore the potential utility of neonatal screening
2012 · Molecular Genetics and Metabolism · 18 citations
https://doi.org/10.1016/j.ymgme.2012.09.017
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