Author
Ambry Genetics (United States)
Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.
4 papers
Recent·Most cited
Marie Balzotti, Linyan Meng, Dale Muzzey…·Krista Moyer
The paper evaluates the clinical validity of expanded carrier screening panels by assessing gene-disease associations for 208 conditions using the ClinGen framework, finding strong evidence for all conditions.
Jun Shen, Andrea M. Oza, Ignacio del Castillo…·Lisa A. Schimmenti
The paper resolves the classification of two GJB2 variants as pathogenic for autosomal recessive nonsyndromic hearing loss through expert consensus.
Gregory J. Hogan, Valentina S. Vysotskaia, Stefanie Seisenberger…·Dale Muzzey
This paper validates an expanded carrier screen with high sensitivity and specificity, showing significant improvements in detecting fetal disease risk through CNV calling and challenging conditions.
Kyle A. Beauchamp, Dale Muzzey, Kenny K. Wong…·Imran S. Haque
The paper evaluates methods for designing expanded carrier screening panels and finds that full-exon sequencing outperforms targeted genotyping in detecting affected fetuses.