Deborah J G Mackay

9PUBLICATIONS
32CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Infant and child healthDevelopmental genetics (incl. sex determination)Epigenetics (incl. genome methylation and epigenomics)Adolescent health
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Publications (9)

|Sep 23, 2026
Diagnosis and management of Silver-Russell syndrome: second international consensus statement.

|Apr 30, 2025
Clinical Characteristics and Remission Monitoring of 6q24-Related Transient Neonatal Diabetes.

Michael E McCullough, Lisa R Letourneau-Freiberg, Tiana L Bowden

|Feb 08, 2024
Body Composition and Metabolism in Adults With Molecularly Confirmed Silver-Russell Syndrome.

Oluwakemi Lokulo-Sodipe, Hazel M Inskip, Christopher D Byrne

|Oct 18, 2023
A case of mosaic deletion of paternally-inherited PLAGL1 and two cases of upd(6)mat add to evidence for PLAGL1 under-expression as a cause of growth restriction.

Ahmed S N Alhendi, Gabriella Gazdagh, Derek Lim

|Feb 02, 2023
Long-term Follow-up of a Late Diagnosed Patient with Temple Syndrome

Nikolinka Yordanova, Violeta Iotova, Deborah J G Mackay

|May 06, 2022
Ongoing Challenges in the Diagnosis of 11p15.5-Associated Imprinting Disorders.

Deborah J G Mackay, I Karen Temple

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Frequent Collaborators

4 joint publications

I Karen Temple

2 joint publications

Justin H Davies

1 joint publications

Nikolinka Yordanova

1 joint publications

Violeta Iotova