Mitchison, Hannah M.

Top Publications

Top Publications Authored or Co-Authored by "Mitchison, Hannah M."

• An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

  Nature Communications, Volume 7, Article 11491, Year 2016, Citations 201
• Rare variants in NR2F2 cause congenital heart defects in humans

  American Journal of Human Genetics, Volume 94, No. 4, Year 2014, Citations 147
• 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
• 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