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1.
Determining the clinical validity of hereditary colorectal cancer and polyposis susceptibility genes using the Clinical Genome Resource Clinical Validity Framework.
Genet Med
; 21(7): 1507-1516, 2019 07.
Article
in English
| MEDLINE | ID: mdl-30523343
2.
Assessing the strength of evidence for genes implicated in fatty acid oxidation disorders using the ClinGen clinical validity framework.
Mol Genet Metab
; 128(1-2): 122-128, 2019.
Article
in English
| MEDLINE | ID: mdl-31399326
3.
The progression of the ClinGen gene clinical validity classification over time.
Hum Mutat
; 39(11): 1494-1504, 2018 11.
Article
in English
| MEDLINE | ID: mdl-30311372
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