Gal, Andreas

Top Publications

Top Publications Authored or Co-Authored by "Gal, Andreas"

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

  Nature Genetics, Volume 26, No. 1, Year 2000, Citations 471
• Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin

  Human Molecular Genetics, Volume 12, No. 5, Year 2003, Citations 306
• Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa

  Nature Genetics, Volume 22, No. 3, Year 1999, Citations 162
• Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy

  Journal of Medical Genetics, Volume 48, No. 2, Year 2011, Citations 141
• Mutational spectrum of the oral-facial-digital type I syndrome: A study on a large collection of patients

  Human Mutation, Volume 29, No. 10, Year 2008, Citations 100