Otaify, Ghada A.

Top Publications

Top Publications Authored or Co-Authored by "Otaify, Ghada A."

• Genomic and phenotypic delineation of congenital microcephaly

  Genetics in Medicine, Volume 21, No. 3, Year 2019, Citations 81
• A Novel Homozygous Mutation in FGFR3 Causes Tall Stature, Severe Lateral Tibial Deviation, Scoliosis, Hearing Impairment, Camptodactyly, and Arachnodactyly

  Human Mutation, Volume 35, No. 8, Year 2014, Citations 63
• Expanding the phenome and variome of skeletal dysplasia

  Genetics in Medicine, Volume 20, No. 12, Year 2018, Citations 56
• FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta

  Journal of Medical Genetics, Volume 55, No. 4, Year 2018, Citations 53
• Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta

  Molecular Genetics and Genomic Medicine, Volume 5, No. 1, Year 2017, Citations 43