Biallelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency.
Huw B. Thomas, Leigh A. M. Demain, Alfredo Cabrera‐Orefice…·William G. Newman
Author
University of Manchester
Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.
Mutual co-authors in cluster
3 papers
Recent·Most cited
Huw B. Thomas, Leigh A. M. Demain, Alfredo Cabrera‐Orefice…·William G. Newman
Thomas B. Smith, Robert Kopajtich, Leigh A. M. Demain…·William G. Newman
This study identifies biallelic DAP3 variants causing mitoribosomal dysfunction, leading to combined oxidative phosphorylation deficiency and Perrault syndrome-like features.
Samantha Carrera, Amanda O’Donnell, Yaoyong Li…·Andrew D Sharrocks
The paper investigates how acetylation dynamics affect gene activation, finding two distinct gene classes with opposing requirements for acetylation levels in their transcriptional response.