Identification of 51 Novel Exons of the Usher Syndrome Type 2A (USH2A) Gene That Encode Multiple Conserved Functional Domains and That Are Mutated in Patients with Usher Syndrome Type II

Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease

1979 • 22,482 citations

Primer3 on the WWW for General Users and for Biologist Programmers

2003 • 15,242 citations

The Pfam protein families database.

2002 • 14,298 citations

PDZ Domains and the Organization of Supramolecular Complexes

2001 • 1,203 citations

The Pfam Protein Families Database

2002 • 785 citations

Usher Syndrome 1D and Nonsyndromic Autosomal Recessive Deafness DFNB12 Are Caused by Allelic Mutations of the Novel Cadherin-Like Gene CDH23

2001 • 534 citations

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

2001 • 475 citations

Genetic epidemiological studies of early‐onset deafness in the U.S. school‐age population

1993 • 442 citations

Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle

2002 • 427 citations

Mutation of a Gene Encoding a Protein with Extracellular Matrix Motifs in Usher Syndrome Type IIa

1998 • 380 citations

Clinical diagnosis of the Usher syndromes

1994 • 329 citations

Missense Mutation in the USH2A Gene: Association with Recessive Retinitis Pigmentosa without Hearing Loss

2000 • 250 citations

The Usher syndrome proteins cadherin 23 and harmonin form a complex by means of PDZ-domain interactions

2002 • 230 citations

The prevalence of Usher syndrome and other retinal dystrophy‐hearing impairment associations

1997 • 179 citations

Genomic Structure and Identification of Novel Mutations in Usherin, the Gene Responsible for Usher Syndrome Type IIa

2000 • 174 citations

The molecular genetics of Usher syndrome

2003 • 159 citations

Usher syndrome in the city of Birmingham---prevalence and clinical classification

1997 • 152 citations

Cosegregation and functional analysis of mutant ABCR (ABCA4) alleles in families that manifest both Stargardt disease and age-related macular degeneration

2001 • 123 citations

Prevalence and geographical distribution of Usher syndrome in Germany

2002 • 92 citations

Usher's syndrome type 3 in Finland

1995 • 90 citations

Identification of novel USH2A mutations: implications for the structure of USH2A protein

2000 • 87 citations

A novel locus for Usher syndrome type II, USH2B, maps to chromosome 3 at p23–24.2

1999 • 85 citations

Localization and expression of usherin: a novel basement membrane protein defective in people with Usher’s syndrome type IIa

2002 • 77 citations

Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation

2003 • 76 citations

USH2A Mutation analysis in 70 Dutch families with Usher syndrome type II

2004 • 62 citations

Visual Acuity Loss in Patients With Usher's Syndrome

1986 • 56 citations

A New Clinical Classification for Usher's Syndrome Based on a New Subtype of Usher's Syndrome Type I

2001 • 56 citations

Genetic heterogeneity of Usher syndrome type II: localisation to chromosome 5q

2000 • 55 citations

Tightly linked flanking microsatellite markers for the Usher syndrome type I locus on the short arm of chromosome 11.

1994 • 48 citations

A domain-specific usherin/collagen IV interaction may be required for stable integration into the basement membrane superstructure

2003 • 45 citations

Three novel mutations and twelve polymorphisms identified in the USH2A gene in Israeli USH2 families

2000 • 41 citations

Usherin expression is highly conserved in mouse and human tissues

2002 • 40 citations

Cloning, characterization, and mRNA expression analysis of novel human fetal cochlear cDNAs☆

2003 • 23 citations

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 Disease

2002 • 21 citations