Adam Jackson

5PUBLICATIONS
30CO-AUTHORS
NeurogeneticsGene mappingTransport properties and non-equilibrium processes
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Publications (5)

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

Adam Jackson, Alexander J M Blakes, Bader Alhaddad

|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

|Jan 23, 2023
Biallelic TUFT1 variants cause woolly hair, superficial skin fragility and desmosomal defects.

Adam Jackson, Celia Moss, Kate E Chandler

|Jun 01, 2021
Recurrent KCNT2 missense variants affecting p.Arg190 result in a recognizable phenotype.

Adam Jackson, Siddharth Banka, Helen Stewart

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