Mark James Hamilton

8PUBLICATIONS
111CO-AUTHORS
Epidemiological modellingNeurology and neuromuscular diseasesVision scienceInfant and child healthEpigenetics (incl. genome methylation and epigenomics)
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Publications (8)

|Jul 01, 2026
De novo EHMT2 variants cause an autosomal dominant EHMT2-related Kleefstra syndrome via loss of G9a methyltransferase activity.

|Nov 26, 2025
Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.

Sébastien Küry, Janelle E Stanton, Geeske M van Woerden

|Nov 07, 2025
Incomplete congenital stationary night blindness associated with a novel variant in the CACNA1F gene.

Shi Pei Loo, Chloe Shipton, Mark Hamilton

|Nov 27, 2024
Predicting Syndromic Status Based on Longitudinal Data from Parental Reports of the Presence of Additional Structural and Functional Anomalies in Children Born with an Orofacial Cleft.

Amy J V Davies, Yvonne E Wren, Mark Hamilton

|Aug 28, 2020
Variant repeats within the DMPK CTG expansion protect function in myotonic dystrophy type 1.

Jacob N Miller, Ellen van der Plas, Mark Hamilton

|Jul 04, 2018
De novo repeat interruptions are associated with reduced somatic instability and mild or absent clinical features in myotonic dystrophy type 1.

Sarah A Cumming, Mark J Hamilton, Yvonne Robb

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Frequent Collaborators

2 joint publications

Sarah A Cumming

2 joint publications

Darren G Monckton

2 joint publications

Antonio Vitobello

1 joint publications

Jacob N Miller