Philomena Mburu
Centre for Human Genetics(GB)University of Oxford(GB)Mary Lyon Centre at MRC Harwell(GB)Université Bourgogne Franche-Comté(FR)
Publications by Year
Research Areas
Hearing, Cochlea, Tinnitus, Genetics, Congenital heart defects research, Cancer-related molecular mechanisms research, RNA and protein synthesis mechanisms, Ear Surgery and Otitis Media
Most-Cited Works
- → Defective myosin VIIA gene responsible for Usher syndrome type IB(1995)1,065 cited
- → A type VII myosin encoded by the mouse deafness gene shaker-1(1995)678 cited
- → A systematic, genome-wide, phenotype-driven mutagenesis programme for gene function studies in the mouse(2000)656 cited
- → Mutations in the myosin VIIA gene cause non-syndromic recessive deafness(1997)469 cited
- → Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31(2003)339 cited
- → Quiet as a mouse: dissecting the molecular and genetic basis of hearing(2008)139 cited