Author
Columbia University Irving Medical CenterORCID 0000-0002-0815-2370Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
5 papers
Recent·Most cited
Hila Milo Rasouly, Sarath Babu Krishna Murthy, Natalie Vena…·Yaşar Çalışkan
This study identifies new genes and shared genetic architecture between kidney anomalies and other developmental disorders using exome-wide analysis of clinical cohorts.
Pankhuri Singhal, Yogasudha Veturi, SCOTT M. DUDEK…·Shefali S. Verma
The paper identifies epistatic SNP-SNP interactions in long-range LD across five diseases using UK Biobank and eMERGE data, finding associations involving conserved genes and essential genes.
Cong Liu, Nur Zeinomar, Wendy K. Chung…·Chunhua Weng
The paper evaluates the generalizability of breast cancer polygenic risk scores across three ancestral groups using the eMERGE dataset, finding good performance in LatinX but not African ancestry women.
Eric Venner, Victoria Yi, David R. Murdock…·Andrea L. Hartzler
Neptune delivers structured genomic data to EHR systems through customizable reports and variant reanalysis, supporting over 15,000 clinical reports.
Mullai Murugan, Lawrence J. Babb, Casey Overby Taylor…·Richard A. Gibbs
This paper describes the implementation of HL7 FHIR standards for representing clinical genomics results in the eMERGE Networks, improving interoperability for genetic data management.