AB
Alexander Blakes
University of Manchester, Royal Manchester Children's Hospital, University of Oxford
Research areas: Biochemistry, Genetics and Molecular Biology · Genetics · Genomics and Rare Diseases · RNA Research and Splicing · Genetics and Neurodevelopmental Disorders
0000-0002-0260-7020
Employment
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University of Manchester Honorary Academic Clinical Fellow2021 - Present
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Royal Manchester Children's Hospital NIHR Academic Clinical Fellow2020 - Present
Education
Education history is unavailable.
Projects & Funding
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Systematic computational, clinical, and functional characterisation of variants in gene termini and their role in developmental disorders. Wellcome Trust2022 - 2025
Publications (23)
- A cross-tissue splicing signature as a quantitative biomarker for ReNU syndrome Save
- Saturation editing of RNU4-2 reveals distinct dominant and recessive disorders Save
- Author Correction: Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes Save
- Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy Save
- Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes Save
- Regional nonsense constraint offers biological and clinical insights into genetic disease Save
- Biallelic variants in RNU2-2 cause a remarkably frequent developmental epileptic encephalopathy Save
- Biallelic variants in the non-coding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes Save
- Acute-onset axonal neuropathy following infection in children with biallelic RCC1 variants: a case series Save
- Analysis of R-loop forming regions identifies RNU2-2 and RNU5B-1 as neurodevelopmental disorder genes Save
- Systematic identification of disease-causing promoter and untranslated region variants in 8040 undiagnosed individuals with rare disease Save
- Saturation genome editing ofRNU4-2reveals distinct dominant and recessive neurodevelopmental disorders Save
- Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault-syndrome-spectrum phenotype Save
- Regional nonsense constraint offers clinical and biological insights into rare genetic disorders Save
- Genetic Risk of Axonal Neuropathy Following Infection Save
- Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design. Save
- Systematic identification of disease-causing promoter and untranslated region variants in 8,040 undiagnosed individuals with rare disease Save
- A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project Save
- A homozygous GRIN1 null variant causes a more severe phenotype of early infantile epileptic encephalopathy Save
- Pathogenic variants causing ABL1 malformation syndrome cluster in a myristoyl-binding pocket and increase tyrosine kinase activity Save