Alexander Jm Blakes

12PUBLICATIONS
96CO-AUTHORS
NeurogeneticsCell and nuclear divisionEpigenetics (incl. genome methylation and epigenomics)Medical biochemistry - proteins and peptides (incl. medical proteomics)Cellular nervous system
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Publications (12)

|Apr 08, 2026
Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

Rocio Rius, Alexander J M Blakes, Yuyang Chen

|Apr 08, 2026
Saturation editing of RNU4-2 reveals distinct dominant and recessive disorders.

Joachim De Jonghe, Hyung Chul Kim, Ayanfeoluwa Adedeji

|Mar 30, 2026
Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy.

Adam Jackson, Alexander J M Blakes, Bader Alhaddad

|Feb 25, 2026
Regional nonsense constraint offers biological and clinical insights into genetic disease.

Alexander J M Blakes, Nicola Whiffin, Colin A Johnson

|May 29, 2025
Analysis of R-loop forming regions identifies RNU2-2 and RNU5B-1 as neurodevelopmental disorder genes.

Adam Jackson, Nishi Thaker, Alexander Blakes

|Apr 29, 2025
Saturation genome editing of RNU4-2 reveals distinct dominant and recessive neurodevelopmental disorders.

Joachim De Jonghe, Hyung Chul Kim, Ayanfeoluwa Adedeji

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Frequent Collaborators

8 joint publications

Siddharth Banka

5 joint publications

Cas Simons

5 joint publications

Rocio Rius

4 joint publications

Chloe A Cunningham