Author
Emory University
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
Angela Peron, Felice D’Arco, Kimberly A. Aldinger…·Cristina Dias
This study defines the clinical spectrum and genotype-phenotype correlations of BCL11A-IDD by analyzing 75 patients with molecular and clinical data.
Nikhil Sahajpal, Ashis Kumar Mondal, Tatiana Tvrdik…·Ravindra B Kolhe
This study validates optical genome mapping (OGM) as a clinical tool for detecting structural variations in hematological neoplasms, showing high sensitivity and specificity compared to standard methods.
Brent S. Pedersen, Joe Brown, Harriet Dashnow…·Aaron R. Quinlan
The paper establishes variant filtering guidelines for rare disease studies and estimates candidate variant yields for different inheritance modes using slivar software.