Deafness heterogeneity in a Druze isolate from the Middle East: novel OTOF and PDS mutations, low prevalence of GJB2 35delG mutation and indication for a new DFNB locus

Molecular cloning: A laboratory manual

1990 • 85,659 citations

Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

1997 • 1,435 citations

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: Causes and consequences

1992 • 1,338 citations

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

1997 • 1,123 citations

The Sensitivity of Single-Strand Conformation Polymorphism Analysis for the Detection of Single Base Substitutions

1993 • 692 citations

Connexin-26 mutations in sporadic and inherited sensorineural deafness

1998 • 645 citations

Prelingual Deafness: High Prevalence of a 30delG Mutation in the Connexin 26 Gene

1997 • 635 citations

Connexin26 mutations associated with the most common form of non- syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans

1997 • 613 citations

A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness

1999 • 549 citations

Novel Mutations in the Connexin 26 Gene (GJB2) That Cause Autosomal Recessive (DFNB1) Hearing Loss

1998 • 506 citations

Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling

1999 • 440 citations

A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families

1999 • 320 citations

The hereditary hearing loss homepage

1997 • 241 citations

Clinical Studies of Families With Hearing Loss Attributable to Mutations in the Connexin 26 Gene (GJB2/DFNB1)

1999 • 202 citations

Hereditary hearing loss and its syndromes

1996 • 181 citations

Two Different Connexin 26 Mutations in an Inbred Kindred Segregating Non-Syndromic Recessive Deafness: Implications for Genetic Studies in Isolated Populations

1997 • 170 citations

The fundamental and medical impacts of recent progress in research on hereditary hearing loss

1998 • 100 citations

Linkage of congenital, recessive deafness (DFNB4) to chromosome 7q31 and evidence for genetic heterogeneity in the Middle Eastern Druze population

1995 • 98 citations

Molecular analysis of Hurler syndrome in Druze and Muslim Arab patients in Israel: multiple allelic mutations of the IDUA gene in a small geographic area.

1993 • 89 citations

Genomics and Hearing Impairment

1999 • 71 citations

High frequency of the deafness‐associated 167delT mutation in the connexin 26 (GJB2) gene in Israeli Ashkenazim

1999 • 8 citations