Author
University of California, San FranciscoORCID 0000-0001-7674-8937Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
5 papers
Recent·Most cited
Bradford C. Powell, Laura M. Amendola, Katherine E. Bonini…·Kevin M. Bowling
The paper develops a standardized case-level categorization metric for genomic results across the CSER2 consortium to assess diagnostic yield and identify resolvable factors in inconclusive cases.
Holly C. Beale, Victor Tse, J.Y. Lee…·Anne Michele Slavotinek
The paper identifies a pathogenic splice site variant in DEGS1 causing aberrant splicing and loss of enzyme activity in individuals with HLD18.
Bani Tamraz, Jaekyu Shin, Raman Ravi Khanna…·Aleksandar Rajkovic
This paper describes the implementation of preemptive pharmacogenomics testing linked to an electronic clinical decision support system at UCSF Health to guide medication decisions.
Yusuph Mavura, Nuriye Sahin‐Hodoglugil, Uğur Hodoğlugil…·NEIL J. RISCH
The study finds no association between diagnostic yield of exome sequencing and genetic ancestry in a diverse pediatric and prenatal cohort.
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.