Mitchison, Hannah M.

The UK10K project identifies rare variants in health and disease

The UK10K Consortium, Writing group, Walter, K., Min, J. L., Huang, J., Crooks, L., Memari, Y., McCarthy, S., Perry, J. R. B., Xu, C., et al. (2015) · Nature

Genetic Associations and EpidemiologyGenomics and Rare Diseases

Cited by 1,040

Motile and non-motile cilia in human pathology: From function to phenotypes

Mitchison, H. M., & Valente, E. M. (2017) · The Journal of Pathology

Genetic and Kidney Cyst DiseasesCystic Fibrosis Research Advances

Cited by 448

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

Boldt, K., van Reeuwijk, J., Lu, Q., Koutroumpas, K., Nguyen, T.-M. T., Texier, Y., van Beersum, S. E. C., Horn, N., Willer, J. R., Mans, D. A., et al. (2016) · Nature Communications

Genetic and Kidney Cyst DiseasesCystic Fibrosis Research Advances

Cited by 240

Motile cilia and airway disease

Legendre, M., Zaragosi, L.-E., & Mitchison, H. M. (2021) · Seminars in Cell & Developmental Biology

Cystic Fibrosis Research AdvancesGenetic and Kidney Cyst Diseases

Cited by 175

CCDC151 Mutations Cause Primary Ciliary Dyskinesia by Disruption of the Outer Dynein Arm Docking Complex Formation

Hjeij, R., Onoufriadis, A., Watson, C. M., Slagle, C. E., Klena, N. T., Dougherty, G. W., Kurkowiak, M., Loges, N. T., Diggle, C. P., Morante, N. F. C., et al. (2014) · The American Journal of Human Genetics

Genetic and Kidney Cyst DiseasesCystic Fibrosis Research Advances

Cited by 174

Whole-genome sequence-based analysis of thyroid function

Taylor, P. N., Porcu, E., Chew, S., Campbell, P. J., Traglia, M., Brown, S. J., Mullin, B. H., Shihab, H. A., Min, J., Walter, K., et al. (2015) · Nature Communications

Genetic Associations and EpidemiologyThyroid Disorders and Treatments

Cited by 104

Opportunities and Challenges for Molecular Understanding of Ciliopathies–The 100,000 Genomes Project

Wheway, G., Genomics England Research Consortium, & Mitchison, H. M. (2019) · Frontiers in Genetics

Genetic and Kidney Cyst DiseasesGenomics and Rare Diseases

Cited by 99

HEATR2 Plays a Conserved Role in Assembly of the Ciliary Motile Apparatus

Diggle, C. P., Moore, D. J., Mali, G., zur Lage, P., Ait-Lounis, A., Schmidts, M., Shoemark, A., Garcia Munoz, A., Halachev, M. R., Gautier, P., et al. (2014) · PLoS Genetics

Genetic and Kidney Cyst DiseasesCystic Fibrosis Research Advances

Cited by 67