Top 20 of Hearing Loss, Sensorineural

Article title # Publications/# Citations

Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome.

2001: DHBroide; HMHoffman; RDKolodner; JLMueller; AAWanderer;

177

A core SMRT corepressor complex containing HDAC3 and TBL1, a WD40-repeat protein linked to deafness.

2000: WFischle; MGGuenther; WSLane; MALazar; RShiekhattar; EVerdin;

146

Auditory hair cell replacement and hearing improvement by Atoh1 gene therapy in deaf mammals.

2005: KAAbrashkin; DEBrough; DFDolan; MIzumikawa; KKawamoto; RMinoda; YRaphael; DLSwiderski;

146

KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness.

1999: AEl-Amraoui; TFriedrich; TJJentsch; CKubisch; BLütjohann; SMarlin; CPetit; BCSchroeder;

139

Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS).

1997: FAdawi; ADBaxevanis; JCBeck; ABuchs; LAEverett; BGlaser; EDGreen; EHazani; ... MHeyman; JRIdol; ENassir; VCSheffield;

128

Cockayne syndrome: review of 140 cases.

1992: SABerry; MANance;

123

Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23.

2000: ZAhmed; ZMAhmed; SBellman; SLBernstein; MBitner-Glindzicz; JMBork; DDesmukh; TBFriedman; ... AJGriffith; VMKaloustian; SNKhan; ALalwani; XCLi; XZLiu; RJMorell; WENance; SLNess; LMPeters; RPolomeno; ARamesh; SRiazuddin; MSchloss; RJSmith; CRSrisailpathy; SWayne; ERWilcox; GWistow;

101

A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C.

2000: SBlanchard; AGal; BJKeats; IKobayashi; MLeibovici; XZLiu; AMansour; CPetit; ... NSalem; RSlim; EVerpy; IZwaenepoel;

99

Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D.

2001: HBolz; ECBryda; Mdel C-Salcedó Cabrera; AGal; CKubisch; KKutsche; OPMolina; HGNothwang; ... ÁRamírez; MSeeliger; MCVilà; Bvon Brederlow;

96

Effects of fluctuating noise and interfering speech on the speech-reception threshold for impaired and normal hearing.

1990: JMFesten; RPlomp;

91

Intrauterine growth retardation and postnatal growth failure associated with deletion of the insulin-like growth factor I gene.

1996: CCamacho-Hübner; AJClark; MOSavage; KAWoods;

90

Association of cadherin 23 with polygenic inheritance and genetic modification of sensorineural hearing loss.

2003: KRJohnson; KNoben-Trauth; QYZheng;

89

Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness.

1999: ABakkaloglu; CWCremers; MJCunningham; Adi Pietro; RDusunsel; KEFinberg; PGoodyer; BIHoffbrand; ... SAHulton; VJha; FEKaret; RPLifton; HMocan; CCMorton; ANayir; RDNelson; SOzen; JRodríguez-Soriano; SASanjad; FSantos; ABSkvorak; JWiniarski; DKWu;

88

Expression in cochlea and retina of myosin VIIa, the gene product defective in Usher syndrome type 1B.

1995: DPCorey; THasson; MBHeintzelman; MSMooseker; JSantos-Sacchi;

86

KCNQ4, a K+ channel mutated in a form of dominant deafness, is expressed in the inner ear and the central auditory pathway.

2000: AEl-Amraoui; JPHardelin; TJJentsch; TKharkovets; CPetit; SSafieddine; MSchweizer;

82

Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for Usher syndrome type 1D.

2001: IABelyantseva; ECBryda; FDi Palma; RHHolme; BKachar; KNoben-Trauth; RPellegrino; KPSteel;

81

Speech perception problems of the hearing impaired reflect inability to use temporal fine structure.

2006: HCarn; SGarnier; GGilbert; CLorenzi; BCMoore;

75

Targeted disruption of mouse Pds provides insight about the inner-ear defects encountered in Pendred syndrome.

2001: IABelyantseva; RCantos; AChen; LAEverett; EDGreen; SLHoogstraten-Miller; BKachar; KNoben-Trauth; SIThakkar; DKWu;

70

Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene.

1994: VENewton; APRead; MTassabehji;

69

A deletion involving the connexin 30 gene in nonsyndromic hearing impairment.

2002: AAlvarez; FJdel Castillo; Idel Castillo; IMenendez; FMoreno; MAMoreno-Pelayo; DTellería; MVillamar;

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