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Roger E Stevenson

25PUBLICATIONS

120CO-AUTHORS

NeurogeneticsMedical molecular engineering of nucleic acids and proteinsGene mappingEpigenetics (incl. genome methylation and epigenomics)Developmental genetics (incl. sex determination)

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Publications (25)

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|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

|Dec 01, 2023

Correction: Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711.

Jiyong Wang, Aidin Foroutan, Ellen Richardson

|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

5 joint publications

Jennifer Kerkhof

5 joint publications

Charles E Schwartz

3 joint publications

Paul Kruszka

3 joint publications

Bekim Sadikovic

3 joint publications

Matthew L Tedder

2 joint publications

Ho-Ming Luk

2 joint publications

Michael J Lyons

2 joint publications

Katta M Girisha

2 joint publications

Sofia Douzgou

2 joint publications

Leah Dowsett

Frequent Collaborators

5 joint publications

Jennifer Kerkhof

5 joint publications

Charles E Schwartz

3 joint publications

Paul Kruszka

3 joint publications

Bekim Sadikovic

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