Author
Broad InstituteORCID 0000-0002-8060-6621Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
3 papers
Recent·Most cited
Ashana Neale, Jacklyn O. Durigan, Hadley Stevens Smith…·Monica Hsiung Wojcik
This study explores equitable strategies for participant engagement in rare disease genomic research through interviews with underrepresented individuals and clinicians.
Anne O’Donnell‐Luria, Stephanie P. DiTroia, Melanie O’Leary…·Heidi L. Rehm
The Rare Genomes Project provides remote genomic sequencing to rare disease families, achieving a 23.3% diagnostic solve rate and highlighting the role of research in overcoming clinical diagnostic barriers.
Jessica X. Chong, Seth Berger, Samantha M. Baxter…·Tanner D. Jensen
The paper develops criteria for identifying, sharing, and reporting novel candidate genes in clinical genomic testing to improve diagnostic yield for Mendelian conditions.