Aglan, Mona Sabry

Top Publications

Top Publications Authored or Co-Authored by "Aglan, Mona Sabry"

• Identification of a frameshift mutation in osterix in a patient with recessive osteogenesis imperfecta

  American Journal of Human Genetics, Volume 87, No. 1, Year 2010, Citations 265
• Mutations in WNT1 cause different forms of bone fragility

  American Journal of Human Genetics, Volume 92, No. 4, Year 2013, Citations 245
• Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta

  Human Mutation, Volume 33, No. 2, Year 2012, Citations 194
• 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
• Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction

  Nature Genetics, Volume 47, No. 5, Year 2015, Citations 113