Hereditary DeafnessKIMBERLING, William J.American journal of medical genetics. 1999, Vol 89, Num 3, issn 0148-7299, 55 p.Serial Issue

The Usher syndromesKEATS, B. J. B; COREY, D. P.American journal of medical genetics. 1999, Vol 89, Num 3, pp 158-166, issn 0148-7299Article

Hearing loss in Usher syndrome type II is nonprogressiveREISSER, Christoph F. V; KIMBERLING, William J; OTTERSTEDDE, Christian R et al.The Annals of otology, rhinology & laryngology. 2002, Vol 111, Num 12, pp 1108-1111, issn 0003-4894, 4 p., 1Article

Clinical phenotype and mutations in connexin 26 (DFNB1/GJB2), the most common cause of childhood hearing lossCOHN, E. S; KELLEY, P. M.American journal of medical genetics. 1999, Vol 89, Num 3, pp 130-136, issn 0148-7299Article

Localization and expression of usherin: a novel basement membrane protein defective in people with Usher's syndrome type IIaBHATTACHARYA, Gautam; MILLER, Caroline; KIMBERLING, William J et al.Hearing research. 2002, Vol 163, Num 1-2, pp 1-11, issn 0378-5955Article

A new clinical classification for Usher's syndrome based on a new subtype of Usher's syndrome type IOTTERSTEDDE, Christian R; SPANDAU, Ulrich; BLANKENAGEL, Anita et al.The Laryngoscope. 2001, Vol 111, Num 1, pp 84-86, issn 0023-852XArticle

A Novel Splice Site Mutation in the RDX Gene Causes DFNB24 Hearing Loss in an Iranian FamilySHEARER, A. Eliot; HILDEBRAND, Michael S; NAJMABADI, Hossein et al.American journal of medical genetics. Part A. 2009, Vol 149, Num 3, pp 555-558, issn 1552-4825, 4 p.Article

Autosomal recessive nonsyndromic hearing lossSUNDSTROM, R. A; VAN LAER, L; VAN CAMP, G et al.American journal of medical genetics. 1999, Vol 89, Num 3, pp 123-129, issn 0148-7299Article

Connexin 26 gene (GJB2) mutation modulates the severity of hearing loss associated with the 1555A→G mitochondrial mutationABE, Satoko; KELLEY, Philip M; KIMBERLING, William J et al.American journal of medical genetics. 2001, Vol 103, Num 4, pp 334-338, issn 0148-7299Article

Jervell and Lange-Nielsen syndrome : A Norwegian perspectiveTRANEBJAERG, L; BATHEN, J; TYSON, J et al.American journal of medical genetics. 1999, Vol 89, Num 3, pp 137-146, issn 0148-7299Article

Unconventional myosins and the genetics of hearing lossFRIEDMAN, T. B; SELLERS, J. R; AVRAHAM, K. B et al.American journal of medical genetics. 1999, Vol 89, Num 3, pp 147-157, issn 0148-7299Article

Loss-of-Function Mutations of ILDR1 Cause Autosomal-Recessive Hearing Impairment DFNB42BORCK, Guntram; UR REHMAN, Atteeq; ANSAR, Muhammad et al.American journal of human genetics. 2011, Vol 88, Num 2, pp 127-137, issn 0002-9297, 11 p.Article

Mutations in the First MyTH4 Domain of MYO15A Are a Common Cause of DFNB3 Hearing LossSHEARER, A. Eliot; HILDEBRAND, Michael S; SMITH, Richard J. H et al.The Laryngoscope. 2009, Vol 119, Num 4, pp 727-733, issn 0023-852X, 7 p.Article

Retinal Disease in Usher Syndrome III Caused by Mutations in the Clarin-1 GeneHERRERA, Waldo; ALEMAN, Tomas S; STONE, Edwin M et al.Investigative ophthalmology & visual science. 2008, Vol 49, Num 6, pp 2651-2660, issn 0146-0404, 10 p.Article

Development of a genotyping microarray for Usher syndromeCREMERS, Frans P. M; KIMBERLING, William J; FLEISCHHAUER, Johannes C et al.Journal of medical genetics. 2007, Vol 44, Num 2, pp 153-160, issn 0022-2593, 8 p.Article

Autosomal dominant nonsyndromic hearing impairmentVAN LAER, L; MCGUIRT, W. T; TAO YANG et al.American journal of medical genetics. 1999, Vol 89, Num 3, pp 167-174, issn 0148-7299Article

Identification of two new mutations in the GPR98 and the PDE6B genes segregating in a Tunisian familyHMANI-AIFA, Mounira; BENZINA, Zeineb; AYADI, Hammadi et al.European journal of human genetics. 2009, Vol 17, Num 4, pp 474-482, issn 1018-4813, 9 p.Article

Autoimmune Disease in a DFNA6/14/38 Family Carrying a Novel Missense Mutation in WFS1HILDEBRAND, Michael S; SORENSEN, Jessica L; JENSEN, Maren et al.American journal of medical genetics. Part A. 2008, Vol 146, Num 17, pp 2258-2265, issn 1552-4825, 8 p.Article

Branchio-oto-renal syndromeKOCHHAR, Amit; FISCHER, Stephanie M; KIMBERLING, William J et al.American journal of medical genetics. Part A. 2007, Vol 143, Num 14, pp 1671-1678, issn 1552-4825, 8 p.Article

Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one familyDE BROUWER, Arjan P. M; PENNINGS, Ronald J. E; KIMBERLING, William J et al.Human genetics. 2003, Vol 112, Num 2, pp 156-163, issn 0340-6717, 8 p.Article

Pure tone hearing thresholds and speech recognition scores in Dutch patients carrying mutations in the USH2A genePENNINGS, Ronald J. E; HUYGEN, Patrick L. M; WESTON, Michael D et al.Otology & neurotology. 2003, Vol 24, Num 1, pp 58-63, issn 1531-7129, 6 p.Article

Identification of the mouse and rat orthologs of the gene mutated in Usher syndrome type IIA and the cellular source of USH2A mRNA in retina, a target tissue of the diseaseDALI HUANG; EUDY, James D; AHMAD, Iqbal et al.Genomics (San Diego, Calif.). 2002, Vol 80, Num 2, pp 195-203, issn 0888-7543, 9 p.Article

Mutations in LOXHD1, an Evolutionarily Conserved Stereociliary Protein, Disrupt Hair Cell Function in Mice and Cause Progressive Hearing Loss in HumansGRILLET, Nicolas; SCHWANDER, Martin; STEPHAN, Dietrich et al.American journal of human genetics. 2009, Vol 85, Num 3, pp 328-337, issn 0002-9297, 10 p.Article

Genotype-phenotype correlations for SLC26A4-related deafnessAZAIEZ, Hela; TAO YANG; PRASAD, Sai et al.Human genetics. 2007, Vol 122, Num 5, pp 451-457, issn 0340-6717, 7 p.Article

The Coxsackievirus and Adenovirus Receptor : A new adhesion protein in cochlear developmentEXCOFFON, Katherine J. D. A; AVENARIUS, Matthew R; HANSEN, Marlan R et al.Hearing research. 2006, Vol 215, Num 1-2, pp 1-9, issn 0378-5955, 9 p.Article