Charles Searby
Publications by Year
Research Areas
Genetic and Kidney Cyst Diseases, Genetic Syndromes and Imprinting, Hereditary Neurological Disorders, Hedgehog Signaling Pathway Studies, Retinal Development and Disorders
Most-Cited Works
- → Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate(2000)501 cited
- → The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25(1998)469 cited
- → Bbs2 -null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin(2004)366 cited
- → Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome(2002)354 cited
- → A BBSome Subunit Links Ciliogenesis, Microtubule Stability, and Acetylation(2008)316 cited
- → An autosomal genomic screen for autism(1999)300 cited
- → Reduction of ER stress via a chemical chaperone prevents disease phenotypes in a mouse model of primary open angle glaucoma(2011)278 cited
- → Identification of the gene that, when mutated, causes the human obesity syndrome BBS4(2001)269 cited
- → A knockin mouse model of the Bardet–Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity(2007)262 cited