Author
University of Alabama at BirminghamORCID 0000-0003-3499-6902Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
5 papers
Recent·Most cited
Nathalie M. Aceves-Ewing, Denise Grant Lanza, Paul C. Marcogliese…·Andrew B. Crouse
The paper identifies novel AXIN2 variants causing expanded phenotypes in humans and validates their pathogenicity using human, mouse, and fly models.
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.
Shilpa N. Kobren, Mikhail A. Moldovan, Rebecca Reimers…·Esteban C. Dell’Angelica
The paper presents a joint genomic analysis of UDN patients using whole genome sequencing and new statistical methods to prioritize disease genes, revealing new disease associations and releasing a software tool for cohort analysis.
Aleksandra Foksinska, Jaclyn Paige Souder, Gabrielle Smith…·Camerron M. Crowder
The paper identifies amantadine and levodopa as potential therapies for JIP3-related neurodevelopmental disorders using zebrafish models and AI-assisted drug screening.
Felix Marbach, Georgi Stoyanov, Florian Erger…·Elizabeth L. Fieg
The paper identifies de novo PRKAR1B variants in six individuals with neurodevelopmental disorder, autism, apraxia, and reduced pain sensitivity.