Author
Duke Medical CenterORCID 0000-0003-2794-8486Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
3 papers
Recent·Most cited
Stacy G. Guzman, Sarah McKeown Ruggiero, Shiva Ganesan…·Ingo Helbig
The paper identifies BSN variants as a cause of a new neurodevelopmental disorder with a broad phenotypic range, using clinical data and computational phenotyping.
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.
Chiara Klöckner, Heinrich Sticht, Pia Zacher…·Konrad Platzer
This study describes 20 individuals with de novo SNAP25 variants, identifying intellectual disability and early-onset epilepsy as core symptoms of SNAP25-DEE, with overlaps with other SNARE complex genes.