James O’Sullivan
Northwestern University(US)Manchester University NHS Foundation Trust(GB)
Publications by Year
Research Areas
Retinal Development and Disorders, RNA regulation and disease, Mitochondrial Function and Pathology, Advanced biosensing and bioanalysis techniques, Epigenetics and DNA Methylation
Most-Cited Works
- → Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling(2014)586 cited
- → Germline Mutations in SUFU Cause Gorlin Syndrome–Associated Childhood Medulloblastoma and Redefine the Risk Associated With PTCH1 Mutations(2014)296 cited
- → Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus(2012)287 cited
- → Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas(2013)255 cited
- → Protein Kinase Cδ Deficiency Causes Mendelian Systemic Lupus Erythematosus With B Cell‐Defective Apoptosis and Hyperproliferation(2013)190 cited
- → Kidney Single-Cell Atlas Reveals Myeloid Heterogeneity in Progression and Regression of Kidney Disease(2020)188 cited