Author
Columbia University Irving Medical CenterORCID 0000-0001-7285-1195Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
4 papers
Recent·Most cited
Ashwin Viswanathan, Molly Murch, Abby L. Brand…·Catherine A. Schevon
This study uses electrophysiologically guided biopsies and single-nucleus RNA sequencing to identify transcriptional differences between seizure focus and ictal penumbra in focal epilepsy.
Avinash V. Dharmadhikari, Maria Alba Abad, Reza Maroofian…·Universitat Autònoma de Barcelona. Departament de Medicina
The paper identifies SPOUT1/CENP-32 as a causative gene for SpADMiSS, linking its dysfunction to mitotic spindle defects and neurodevelopmental disorders.
Khemika Khemakanok Sudnawa, Wenxing Li, Sean Calamia…·Wendy K. Chung
The paper reports clinical phenotypes and longitudinal adaptive function in KIF1A-associated neurological disorder and correlates them with computational predictions of genotype severity.
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.