William Kimberling, Ph.D.

Director, Center for the Study and Treatment of Usher Syndrome
Director, Gene Markers Laboratory
Boys Town National Research Hospital

Professor, Departments of Ophthalmology and Visual Sciences and Otolaryngology
University of Iowa Carver School of Medicine

Boys Town National Research Hospital
Center for the Study and Treatment of Usher Syndrome
555 N. 30th St.
Omaha, NE 68131
contact address

Selected Bibliography:

Cohn ES, Kelley PM, Fowler TW, Gorga MP, Lefkowitz DM, Kuehn HJ, Schaefer GB, Gobar LS, Hahn FJ, Harris DJ, Kimberling WJ.
Clinical studies of families with hearing loss attributable to mutations in the connexin 26 gene (GJB2/DFNB1).
Pediatrics. 1999;103(3):546-50. PubMed abstract

Orten DJ, Fischer SM, Sorensen JL, Radhakrishna U, Cremers CW, Marres HA, Van Camp G, Welch KO, Smith RJ, Kimberling WJ.
Branchio-oto-renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR.
Hum Mutat. 2008;29(4):537-44. PubMed abstract

Kimberling WJ, Hildebrand MS, Shearer AE, Jensen ML, Halder JA, Trzupek K, Cohn ES, Weleber RG, Stone EM, Smith RJ.
Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children.
Genet Med. 2010. PubMed abstract / Full Text

Kimberling WJ, Borsa N, Smith RJ.
Hearing loss disorders associated with renal disease.
Adv Otorhinolaryngol. 2011;70:75-83. PubMed abstract

Shearer AE, Black-Ziegelbein EA, Hildebrand MS, Eppsteiner RW, Ravi H, Joshi S, Guiffre AC, Sloan CM, Happe S, Howard SD, Novak B, Deluca AP, Taylor KR, Scheetz TE, Braun TA, Casavant TL, Kimberling WJ, Leproust EM, Smith RJ.
Advancing genetic testing for deafness with genomic technology.
J Med Genet. 2013;50(9):627-34. PubMed abstract