Daniel Doherty
University of Washington(US)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, RNA Research and Splicing, Genetic and Kidney Cyst Diseases, Cellular transport and secretion
Most-Cited Works
- → Mapping the NPHP-JBTS-MKS Protein Network Reveals Ciliopathy Disease Genes and Pathways(2011)617 cited
- → CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium(2012)189 cited
- → Prospective Evaluation of Kidney Disease in Joubert Syndrome(2017)74 cited
- → De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation(2020)69 cited
- → Beyond Gómez‐López‐Hernández syndrome: Recurring phenotypic themes in rhombencephalosynapsis(2012)45 cited
- → Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans(2024)32 cited
- → Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases(2021)32 cited
- → Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain(2021)27 cited
- → Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11(2021)26 cited
- → COL4A1-Related Disease: Raised Creatine Kinase and Cerebral Calcification as Useful Pointers(2012)21 cited