Alswaid, Abdulrahman Faiz

Top Publications

Top Publications Authored or Co-Authored by "Alswaid, Abdulrahman Faiz"

• Homozygosity for a Missense Mutation in SERPINH1, which Encodes the Collagen Chaperone Protein HSP47, Results in Severe Recessive Osteogenesis Imperfecta

  American Journal of Human Genetics, Volume 86, No. 3, Year 2010, Citations 298
• ADAMTS10 mutations in autosomal recessive weill-marchesani syndrome

  American Journal of Human Genetics, Volume 75, No. 5, Year 2004, Citations 262
• CC2D2A Is Mutated in Joubert Syndrome and Interacts with the Ciliopathy-Associated Basal Body Protein CEP290

  American Journal of Human Genetics, Volume 83, No. 5, Year 2008, Citations 226
• Protein-Truncating Mutations in ASPM Cause Variable Reduction in Brain Size

  American Journal of Human Genetics, Volume 73, No. 5, Year 2003, Citations 182
• Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism

  Nature Genetics, Volume 49, No. 4, Year 2017, Citations 62