Lisa M. Astuto

CDH23 Mutation and Phenotype Heterogeneity: A Profile of 107 Diverse Families with Usher Syndrome and Nonsyndromic Deafness

Lisa M. Astuto, Julie M. Bork, Michael D. Weston et al. · The American Journal of Human Genetics · 2002 · 230 citations · Full text

Mendelian Disorder, Genetic Disorder, Phenotype Heterogeneity +6

Genetic Heterogeneity of Usher Syndrome: Analysis of 151 Families with Usher Type I

Lisa M. Astuto, Michael D. Weston, Carol A. Carney et al. · The American Journal of Human Genetics · 2000 · 71 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +6

Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family

Arjan Pm de Brouwer, Ronald J. E. Pennings, Marjolijn Roeters et al. · Human Genetics · 2003 · 47 citations

Molecular Physiology, Signal Transduction, Genetic Disorder +8

Variable Clinical Features in Patients with CDH23 Mutations (USH1D-DFNB12)

Ronald J. E. Pennings, Vedat Topsakal, Lisa M. Astuto et al. · Otology & Neurotology · 2004 · 35 citations

Searching for evidence of DFNB2

Lisa M. Astuto, Philip M. Kelley, James W. Askew et al. · American Journal of Medical Genetics · 2002 · 25 citations