Author
University of Washington
Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.
Mutual co-authors in cluster
3 papers
Recent·Most cited
Rocío Rius, Alexander J. M. Blakes, Yuyang Chen…·Nicola Whiffin
The paper identifies biallelic variants in RNU4-2 causing a recessive neurodevelopmental syndrome with distinct white matter changes, expanding the known genotypic and phenotypic spectrum of RNU4-2-related disorders.
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.
Joachim De Jonghe, Hyung Chul Kim, Ayanfeoluwa Adedeji…·Gregory M. Findlay
This study uses saturation genome editing to analyze RNU4-2 variants, identifying functional impacts and redefining the ReNU syndrome critical region.