ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007
By C. Richards, S. Bale, D. Bellissimo, Soma Das, W. Grody, Madhuri R. Hegde, E. Lyon, B. Ward. 2008
809 citations recorded by the source corpus.
Subfields: Genetics, Pathology and Forensic Medicine
How researchers see this paper
The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.
- D. Easton
- A. Spurdle
- S. Plon
- Diana Eccles
- Frans B. L. Hogervorst
- M. Greenblatt
- S. Tavtigian
- W. D. Foulkes
Citations in the corpus
- Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders (2014, neutral): “DD + hypotonia 28/111 25 (18-34) 2/27 7 (1-24) 26/80 33 (23-43) 0/4 0 (0-55)”
- Exome sequencing as a tool for Mendelian disease gene discovery (2011, neutral): “Last, standards and guidelines for exome or whole-genome sequence testing and reporting in clinical laboratories will need to be established 66 .”