Pendred syndrome, DFNB4, andPDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations

Colleen A. Campbell, Robert A. Cucci, Sai Prasad, +6

Human Mutation

Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13)

Wyman T. McGuirt, Sai Prasad, Andrew J. Griffith, +17

Nature Genetics

Auditory ProcessingGenetic DisorderGeneticsDisease Gene IdentificationAuditory Research +2

Genotype–phenotype correlations for SLC26A4-related deafness

Héla Azaiez, Tao Yang, Sai Prasad, +4

Human Genetics

Allelic VariantGeneticsGenotype–phenotype CorrelationsAudiologyAuditory Research +2

GJB2: The spectrum of deafness-causing allele variants and their phenotype

Héla Azaiez, Gregory Chamberlin, Stephanie M. Fischer, +6

Human Mutation

Genetic testing for hereditary hearing loss: Connexin 26 (GJB2) allele variants and two novel deafness-causing mutations (R32C and 645-648delTAGA)

Sai Prasad, Robert A. Cucci, Glenn E. Green, +1

Human Mutation

GeneticsPathologyGjb2 MutationDisease Gene IdentificationClinical Genetics +14

Pendred syndrome and DFNB4‐mutation screening of <i>SLC26A4</i> by denaturing high‐performance liquid chromatography and the identification of eleven novel mutations

Sai Prasad, Karen A. Kölln, Robert A. Cucci, +3

American Journal of Medical Genetics Part A

The M34T Allele Variant of Connexin 26

Robert A. Cucci, Sai Prasad, Philip M. Kelley, +6

Genetic Testing

Allelic VariantDevelopmental BiologyMendelian DisorderGap JunctionsGenetic Disorder +10

Localization of a novel gene for nonsyndromic hearing loss (DFNB17) to chromosome region 7q31

John H. Greinwald, Sigrid Wayne, Achih H. Chen, +10

American Journal of Medical Genetics

Autosomal Dominant Inherited Hearing Impairment Caused by a Missense Mutation in COL11A2 (DFNA13)

Els De Leenheer, Henricus P. M. Kunst, Wyman T. McGuirt, +5

Archives of Otolaryngology - Head and Neck Surgery

Refined localization and two additional linked families for the DFNA10 locus for nonsyndromic hearing impairment

Kristien Verhoeven, Toril Fagerheim, Sai Prasad, +10

Human Genetics

Nonsyndromic Hearing ImpairmentGeneticsAudiologyAuditory PhysiologyNeuroscience +7