Updated recommendations for CFTR carrier screening: A position statement of the American College of Medical Genetics and Genomics (ACMG)-Reference-Cited by-同舟云学术

Updated recommendations for CFTR carrier screening: A position statement of the American College of Medical Genetics and Genomics (ACMG)

Published:2023-08 Issue:8 Volume:25 Page:100867
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Deignan Joshua L.,Gregg Anthony R.,Grody Wayne W.,Guo Michael H.,Kearney Hutton,Monaghan Kristin G.,Raraigh Karen S.,Taylor Jennifer,Zepeda-Mendoza Cinthya J.,Ziats Catherine

Publisher

Elsevier BV

Subject

Genetics (clinical)

Reference22 articles.

1. Laboratory standards and guidelines for population-based cystic fibrosis carrier screening;Grody;Genet Med,2001

2. Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel;Watson;Genet Med,2004

3. The cystic fibrosis mutation “arms race”: when less is more;Grody;Genet Med,2007

4. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology;Richards;Genet Med,2015

5. CFTR variant testing: a technical standard of the American College of Medical Genetics and Genomics (ACMG);Deignan;Genet Med,2020

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