Hannah Mitchison
University College London
H-index: 64
Europe-United Kingdom
Top articles of Hannah Mitchison
Title | Journal | Author(s) | Publication Date |
|---|---|---|---|
13 ‘Don’t let it hold you back’: the experience of transition to adulthood in young people with primary ciliary dyskinesia | Rhys Dore Isabella Nizza Hannah Mitchison Celine Lewis | 2024/3/1 | |
‘Don’t let it hold you back’—The experience of transition to adulthood in young people with primary ciliary dyskinesia: An interpretative phenomenological analysis | Journal of Health Psychology | Rhys Dore Isabella E Nizza Hannah M Mitchison Celine Lewis | 2024/1/28 |
Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules | Science | Daniel O Dodd Sabrina Mechaussier Patricia L Yeyati Fraser McPhie Jacob R Anderson | 2024/4/26 |
Combined approaches, including long-read sequencing, address the diagnostic challenge of HYDIN in primary ciliary dyskinesia | Deborah Morris-Rosendahl Andrew Fleming Miranda Galey Lizi Briggs Claire Hogg | 2023/9/9 | |
206 ‘Don’t let it hold you back’: the experience of transition to adulthood in young people with primary ciliary dyskinesia | Rhys Dore Isabella Nizza Hannah Mitchison Celine Lewis | 2023/7/1 | |
Axonemal structures reveal mechanoregulatory and disease mechanisms | Nature | Travis Walton Miao Gui Simona Velkova Mahmoud R Fassad Robert A Hirst | 2023/5/31 |
IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans | PLoS Genetics | Zeineb Bakey Oscar A Cabrera Julia Hoefele Dinu Antony Kaman Wu | 2023/6/14 |
Defective airway intraflagellar transport underlies a combined motile and primary ciliopathy syndrome caused by IFT74 mutations | Human Molecular Genetics | Mahmoud R Fassad Nisreen Rumman Katrin Junger Mitali P Patel James Thompson | 2023/11/1 |
The Palestinian primary ciliary dyskinesia population: first results of the diagnostic and genetic spectrum | ERJ Open Research | Nisreen Rumman Mahmoud R Fassad Corine Driessens Patricia Goggin Nader Abdelrahman | 2023/3/1 |
Preliminary results from the “Genes encoding complex ciliopathies of bronchiectasis” GECCO study: An EMBARC project | Amelia Shoemark Mahmoud Fassad Lidia Perea Erin Cant Mathieu Bottier | 2023/9/9 | |
Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data | medRxiv | Valentina Cipriani Letizia Vestito Emma F Magavern Julius OB Jacobsen Gavin Arno | 2023 |
Evaluating gene-disease relationships in motile ciliopathies: an international ClinGen and BEAT-PCD ERS CRC collaboration. | Suzanne Crowley William Hankey Marwa Elnagheeb Rahma Mani Maria-Ines Benito | 2023/9/9 | |
ciliR: a new R package for determining ciliary beat frequency using fast-Fourier transformation. | bioRxiv | Oriane Grant Isobel Larken Sam Reitemeier Hannah M Mitchison William Dawes | 2023 |
Primary ciliary dyskinesia: a big data genomics approach | The Lancet Respiratory Medicine | Hannah M Mitchison Damian Smedley | 2022/5/1 |
Genome sequencing reveals underdiagnosis of primary ciliary dyskinesia in bronchiectasis | European Respiratory Journal | Amelia Shoemark Helen Griffin Gabrielle Wheway Claire Hogg Jane S Lucas | 2022/11/1 |
TUBB4B variants specifically impact ciliary function, causing a ciliopathic spectrum | medRxiv | Sabrina Mechaussier Daniel O Dodd Patricia L Yeyati Fraser McPhie Thomas Attard | 2022/10/21 |
Development and first results of the BEAT-PCD international Primary Ciliary Dyskinesia gene variant database: CiliaVar | Rahma Mani Mafalda Gomes Adrián Rodríguez González Claire Hogg Deborah Morris-Rosendahl | 2021/9/5 | |
CFAP300 mutation causing primary ciliary dyskinesia in Finland | Frontiers in Genetics | Rüdiger Schultz Varpu Elenius Mahmoud R Fassad Grace Freke Andrew Rogers | 2022/9/30 |
Motile cilia and airway disease | Marie Legendre Laure-Emmanuelle Zaragosi Hannah M Mitchison | 2021/2/1 | |
Higher throughput drug screening for rare respiratory diseases: readthrough therapy in primary ciliary dyskinesia | European Respiratory Journal | Dani Do Hyang Lee Daniela Cardinale Ersilia Nigro Colin R Butler Andrew Rutman | 2021/10/1 |
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