Responsible implementation of expanded carrier screening
Responsible implementation of expanded carrier screening
About this item
Full title
Author / Creator
Henneman, Lidewij , Borry, Pascal , Chokoshvili, Davit , Cornel, Martina C , van El, Carla G , Forzano, Francesca , Hall, Alison , Howard, Heidi C , Janssens, Sandra , Kayserili, Hülya , Lakeman, Phillis , Lucassen, Anneke , Metcalfe, Sylvia A , Vidmar, Lovro , de Wert, Guido , Dondorp, Wybo J , Peterlin, Borut and on behalf of the European Society of Human Genetics (ESHG)
Publisher
England: Nature Publishing Group
Journal title
Language
English
Formats
Publication information
Publisher
England: Nature Publishing Group
Subjects
More information
Scope and Contents
Contents
This document of the European Society of Human Genetics contains recommendations regarding responsible implementation of expanded carrier screening. Carrier screening is defined here as the detection of carrier status of recessive diseases in couples or persons who do not have an a priori increased risk of being a carrier based on their or their pa...
Alternative Titles
Full title
Responsible implementation of expanded carrier screening
Authors, Artists and Contributors
Author / Creator
Borry, Pascal
Chokoshvili, Davit
Cornel, Martina C
van El, Carla G
Forzano, Francesca
Hall, Alison
Howard, Heidi C
Janssens, Sandra
Kayserili, Hülya
Lakeman, Phillis
Lucassen, Anneke
Metcalfe, Sylvia A
Vidmar, Lovro
de Wert, Guido
Dondorp, Wybo J
Peterlin, Borut
on behalf of the European Society of Human Genetics (ESHG)
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_swepub_primary_oai_DiVA_org_uu_297766
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_swepub_primary_oai_DiVA_org_uu_297766
Other Identifiers
ISSN
1018-4813,1476-5438
E-ISSN
1476-5438
DOI
10.1038/ejhg.2015.271
