Hannah M Mitchison

10PUBLICATIONS
139CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Cellular nervous systemRespiratory diseasesStructural properties of condensed matterPacific Peoples biomedical and clinical science
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Publications (10)

|Feb 26, 2025
Rare disease gene association discovery in the 100,000 Genomes Project.

Valentina Cipriani, Letizia Vestito, Emma F Magavern

|Apr 25, 2024
Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules.

Daniel O Dodd, Sabrina Mechaussier, Patricia L Yeyati

|Apr 11, 2024
Combined approaches, including long-read sequencing, address the diagnostic challenge of HYDIN in primary ciliary dyskinesia.

Andrew Fleming, Miranda Galey, Lizi Briggs

|Aug 09, 2023
Defective airway intraflagellar transport underlies a combined motile and primary ciliopathy syndrome caused by IFT74 mutations.

Mahmoud R Fassad, Nisreen Rumman, Katrin Junger

|Apr 20, 2023
The Palestinian primary ciliary dyskinesia population: first results of the diagnostic and genetic spectrum.

Nisreen Rumman, Mahmoud R Fassad, Corine Driessens

|Mar 03, 2023
IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans.

Zeineb Bakey, Oscar A Cabrera, Julia Hoefele

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Frequent Collaborators

6 joint publications

Mahmoud R Fassad

3 joint publications

Jane S Lucas

2 joint publications

Mitali Patel

2 joint publications

Gabrielle Wheway