Hannah M. Mitchison

Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left–right asymmetry

Heike Olbrich, Karsten Häffner, Andreas Kispert et al. · Nature Genetics · 2002 · 550 citations

Genome Instability, Mendelian Disorder, Genetic Disorder +6

Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel

Jie Huang, Bryan Howie, Shane McCarthy et al. · Nature Communications · 2015 · 374 citations · Full text

Mutations in the <i>DNAH11</i> (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia

Lucia Bartoloni, Jean‐Louis Blouin, Yanzhen Pan et al. · Proceedings of the National Academy of Sciences · 2002 · 359 citations · Full text

Mutations in Radial Spoke Head Protein Genes RSPH9 and RSPH4A Cause Primary Ciliary Dyskinesia with Central-Microtubular-Pair Abnormalities

Victoria Castleman, Leila Romio, Rahul Chodhari et al. · The American Journal of Human Genetics · 2009 · 341 citations · Full text

Developmental Biology, Genetics, Pathology +4

The UK10K project identifies rare variants in health and disease

Klaudia Walter, Josine L. Min, Jie Huang et al. · Kölner Universitäts PublikationsServer (Universität zu Köln) · 2015 · 299 citations · Full text