Author
Duke Medical CenterORCID 0000-0003-3742-7799Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
3 papers
Recent·Most cited
Nikhita Gogate, Angad Jolly, Jill Anne Rosenfeld…·Shamil R. Sunyaev
The paper identifies domain-specific phenotypic effects of MACF1 variants outside the GAR domain, revealing broader neurodevelopmental and craniofacial anomalies.
Isabelle B. Cooperstein, Shruti Marwaha, Alistair N. Ward…·Emily Glanton
This paper optimizes variant prioritization parameters for Exomiser and Genomiser to improve diagnostic yield in rare disease cases using WES and WGS data.
Hannah C. Happ, Lynette Grant Sadleir, Matthew Zemel…·Gemma L. Carvill
The paper reports a cohort of 17 patients with pathogenic KCNH5 variants causing neurodevelopmental disorders and epilepsy, identifying genotype-phenotype correlations.