Author
University of California San DiegoORCID 0000-0002-3188-3788Unclaimed 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.
David Cheerie, Margaret M. Meserve, Danique Beijer…·Marlen C. Lauffer
The paper presents consensus guidelines for assessing pathogenic variants' eligibility for antisense oligonucleotide treatments, including classification criteria and considerations for different therapeutic approaches.
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.