Author
Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.
3 papers
Recent·Most cited
Kimberly K. Diaz Perez, Sarah W. Curtis, Alba Sanchis‐Juan…·Elizabeth J. Leslie
The paper estimates the diagnostic yield of sequencing 418 genes in OFC cases and controls, finding a higher prevalence of likely pathogenic variants in cases.
Madison R. Bishop, Kimberly K. Diaz Perez, Miranda R. Sun…·Elizabeth J. Leslie
The paper identifies coding de novo mutations in whole-genome sequencing data from OFC cases and finds enrichment in genes expressed in craniofacial tissues and linked to OFC syndromes.
Nandita Mukhopadhyay, Madison R. Bishop, Michael Mortillo…·Mary L. Marazita
This study uses whole genome sequencing of OFC trios to identify a new locus on chromosome 21 associated with OFCs in Colombian families.