Roger E Stevenson

26PUBLICATIONS
124CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)NeurogeneticsMedical molecular engineering of nucleic acids and proteinsGene mappingDevelopmental genetics (incl. sex determination)
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Publications (26)

|Aug 04, 2026
Abidi Syndrome and Another Family With X-Linked Intellectual Disability Have TAF1 Variants and Reduced Phosphorylation of RNA Polymerase II Associated Protein 74.

|Mar 19, 2026
A three generation family with VACTERL association is found to have a rare form of diamond-blackfan anaemia.

Iryna Leshchynska, Debjani Das, Victoria O'Reilly

|Mar 27, 2025
The contribution of de novo coding mutations to meningomyelocele.

Yoo-Jin Jiny Ha, Ashna Nisal, Isaac Tang

|Mar 19, 2025
Optical genome mapping identifies rare structural variants in neural tube defects.

Nikhil S Sahajpal, Jane Dean, Benjamin Hilton

|May 02, 2024
Risk of meningomyelocele mediated by the common 22q11.2 deletion.

Keng Ioi Vong, Sangmoon Lee, Kit Sing Au

|Feb 16, 2023
Identification of a DNA methylation signature for Renpenning syndrome (RENS1), a spliceopathy.

Sadegheh Haghshenas, Aidin Foroutan, Pratibha Bhai

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Frequent Collaborators

6 joint publications

Charles E Schwartz

5 joint publications

Jennifer Kerkhof

3 joint publications

Paul Kruszka

3 joint publications

Bekim Sadikovic