Alexander M. Blakes

St Mary's Hospital, Health Innovation Manchester
Manchester, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 18 publications

Author Correction: Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

Author Correction: Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

Journal: Nature genetics

Published: May 18, 2026

Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy.

Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy.

Journal: Nature genetics

Published: September 02, 2025

Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

Journal: Nature genetics

Published: August 18, 2025

Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

Journal: Nature genetics

Published: August 18, 2025

Publisher Correction: Analysis of R-loop forming regions identifies RNU2-2 and RNU5B-1 as neurodevelopmental disorder genes.

Publisher Correction: Analysis of R-loop forming regions identifies RNU2-2 and RNU5B-1 as neurodevelopmental disorder genes.

Journal: Nature genetics

Published: June 24, 2025

Regional nonsense constraint offers biological and clinical insights into genetic disease.

Regional nonsense constraint offers biological and clinical insights into genetic disease.

Journal: Nature communications

Published: June 23, 2025

Saturation editing of RNU4-2 reveals distinct dominant and recessive disorders.

Saturation editing of RNU4-2 reveals distinct dominant and recessive disorders.

Journal: Nature

Published: April 24, 2025

Acute-onset axonal neuropathy following infection in children with biallelic RCC1 variants: a case series.

Acute-onset axonal neuropathy following infection in children with biallelic RCC1 variants: a case series.

Journal: The Lancet. Neurology

Published: January 07, 2025

Systematic identification of disease-causing promoter and untranslated region variants in 8040 undiagnosed individuals with rare disease.

Systematic identification of disease-causing promoter and untranslated region variants in 8040 undiagnosed individuals with rare disease.

Journal: Genome medicine

Published: November 21, 2024

Biallelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered intrinsic and extrinsic apoptosis and a Perrault syndrome-spectrum phenotype.

Biallelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered intrinsic and extrinsic apoptosis and a Perrault syndrome-spectrum phenotype.

Journal: medRxiv : the preprint server for health sciences

Published: October 07, 2024

Analysis of R-loop forming regions identifies RNU2-2 and RNU5B-1 as neurodevelopmental disorder genes.

Analysis of R-loop forming regions identifies RNU2-2 and RNU5B-1 as neurodevelopmental disorder genes.

Journal: Nature genetics

Published: October 03, 2024

Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault-syndrome-spectrum phenotype.

Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault-syndrome-spectrum phenotype.

Journal: American journal of human genetics

Published: July 28, 2024

Showing 1-12 of 18

Last Updated: 09/26/2026