Fassad, Mahmoud R.

Top Publications

Top Publications Authored or Co-Authored by "Fassad, Mahmoud R."

• X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3

  Nature Communications, Volume 8, Article 14279, Year 2017, Citations 124
• Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus

  American Journal of Human Genetics, Volume 103, No. 6, Year 2018, Citations 85
• Expanding the phenome and variome of skeletal dysplasia

  Genetics in Medicine, Volume 20, No. 12, Year 2018, Citations 56
• High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations

  Thorax, Volume 73, No. 2, Year 2018, Citations 56
• Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohort

  Journal of Medical Genetics, Volume 57, No. 5, Year 2020, Citations 52