Elçioǧlu, Nursel H.

Top Publications

Top Publications Authored or Co-Authored by "Elçioǧlu, Nursel H."

• BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus

  Nature Genetics, Volume 38, No. 5, Year 2006, Citations 300
• LRP4 Mutations Alter Wnt/β-Catenin Signaling and Cause Limb and Kidney Malformations in Cenani-Lenz Syndrome

  American Journal of Human Genetics, Volume 86, No. 5, Year 2010, Citations 165
• 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
• Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg anophthalmia) syndrome in humans and mice

  PLoS Genetics, Volume 7, No. 7, Article e1002114, Year 2011, Citations 83
• Next generation sequencing identifies mutations in atonal homolog 7 (ATOH7) in families with global eye developmental defects

  Human Molecular Genetics, Volume 21, No. 4, Article ddr509, Year 2012, Citations 69