• Publications
  • Influence
PKD2, a Gene for Polycystic Kidney Disease That Encodes an Integral Membrane Protein
A second gene for autosomal dominant polycystic kidney disease was identified by positional cloning. Nonsense mutations in this gene (PKD2) segregated with the disease in three PKD2 families. TheExpand
  • 1,215
  • 59
Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss.
Mutations in the connexin 26 (Cx26) gene (GJB2) are associated with the type of autosomal recessive nonsyndromic neurosensory deafness known as "DFNB1." Studies indicate that DFNB1 (13q11-12) causesExpand
  • 484
  • 39
  • Open Access
Defective myosin VIIA gene responsible for Usher syndrome type IB
USHER syndrome represents the association of a hearing impairment with retinitis pigmentosa1 and is the most frequent cause of deaf–blindness in humans. It is inherited as an autosomal recessiveExpand
  • 1,009
  • 37
  • Open Access
Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II.
Usher syndrome type II (USH2) is a genetically heterogeneous autosomal recessive disorder with at least three genetic subtypes (USH2A, USH2B, and USH2C) and is classified phenotypically as congenitalExpand
  • 255
  • 23
Prevalent connexin 26 gene (GJB2) mutations in Japanese
The gene responsible for DNFB1 and DFNA3, connexin 26 (GJB2), was recently identified and more than 20 disease causing mutations have been reported so far. This paper presents mutation analysis forExpand
  • 350
  • 20
Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa.
Usher syndrome type IIa (OMIM 276901), an autosomal recessive disorder characterized by moderate to severe sensorineural hearing loss and progressive retinitis pigmentosa, maps to the long arm ofExpand
  • 329
  • 19
Non-syndromic recessive auditory neuropathy is the result of mutations in the otoferlin (OTOF) gene
It is estimated that about 1 in 500 children are born with a significant hearing loss.1 Non-syndromic recessive hearing loss (NSRHL) represents a major aetiologic factor in childhood hearing lossExpand
  • 204
  • 17
  • Open Access
Factors affecting the progression of renal disease in autosomal-dominant polycystic kidney disease
Autosomal-dominant polycystic kidney disease results in renal failure at a varying age from childhood to old age. We postulated that factors other than the culprit gene alone contribute to the courseExpand
  • 252
  • 16
Mutations in the human α-tectorin gene cause autosomal dominant non-syndromic hearing impairment
The tectorial membrane is an extracellular matrix of the inner ear that contacts the stereocilia bundles of specialized sensory hair cells. Sound induces movement of these hair cells relative to theExpand
  • 286
  • 13
Quantitative trait locus for reading disability on chromosome 6.
Interval mapping of data from two independent samples of sib pairs, at least one member of whom was reading disabled, revealed evidence for a quantitative trait locus (QTL) on chromosome 6. ResultsExpand
  • 537
  • 12
  • Open Access