Author
University of UtahORCID 0000-0001-7032-4594Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
6 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.
Tonya Di Sera, Matt Velinder, Alistair N. Ward…·Gábor Marth
gene.iobio is a web tool that enables clinicians and researchers to interactively analyze and prioritize genomic variants for clinical diagnosis and patient care.
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.
Dongxue Mao, Chloe M. Reuter, Maura R. Z. Ruzhnikov…·Christine M. Eng
The paper identifies de novo variants in EIF2AK1 and EIF2AK2 associated with neurodevelopmental disorders and leukoencephalopathy, showing similar pathogenic mechanisms to CACH/VWM.