Author
University College LondonORCID 0000-0003-2568-8326Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
5 papers
Recent·Most cited
Sarah J. Smith, Samira Ait-El-Mkadem Saadi, Jamie K. Leighton…·Robert William Taylor
This study identifies biallelic UQCC1 variants as a cause of early-onset mitochondrial disease by impairing complex III assembly and function.
Callum Hunt, Manjiri Patil, Hammad Syed…·Mervyn George Thomas
This paper identifies genetic variants and genes associated with foveal hypoplasia using GWAS and multi-omics data, and establishes a zebrafish model to study the condition.
Thomas Burgoyne, Mahmoud R. Fassad, Rüdiger Schultz…·Anu I. Sironen
This study identifies HYDIN variants as a cause of primary ciliary dyskinesia in the Finnish population, showing their clinical and functional impact.
Daniel O Dodd, Sabrina Méchaussier, Patricia Levy Yeyati…·Pleasantine Mill
The paper identifies TUBB4B mutations causing distinct ciliopathic diseases by affecting microtubule dynamics and cilia formation in humans and mice.
Mahmoud R. Fassad, Amelia Shoemark, Pierrick le Borgne…·Hannah M. Mitchison
This study identifies C11orf70 mutations as a cause of primary ciliary dyskinesia, showing they disrupt IFT-dependent dynein arm assembly and cilia motility.