Philomena Mburu

Defective myosin VIIA gene responsible for Usher syndrome type IB

Dominique Well, Stéphane Blanchard, Josseline Kaplan et al. · Nature · 1995 · 1.1K citations

Mendelian Disorder, Genetic Disorder, Genetics +3

A type VII myosin encoded by the mouse deafness gene shaker-1

Faith Gibson, James Walsh, Philomena Mburu et al. · Nature · 1995 · 677 citations

Knockout Mouse, Molecular Physiology, Genetic Disorder +8

A systematic, genome-wide, phenotype-driven mutagenesis programme for gene function studies in the mouse

Patrick M. Nolan, Jo Peters, Mark Strivens et al. · Nature Genetics · 2000 · 655 citations

Knockout Mouse, Transgenic Mouse Models, Genetics +11

Mutations in the myosin VIIA gene cause non-syndromic recessive deafness

Xue-Zhong Liu, James Walsh, Philomena Mburu et al. · Nature Genetics · 1997 · 467 citations

Developmental Biology, Mendelian Disorder, Genetic Disorder +5

Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31

Philomena Mburu, Mirna Mustapha, Anabel Varela et al. · Nature Genetics · 2003 · 338 citations

Knockout Mouse, Pdz Domain Molecule, Cause Deafness +9