Deborah J G Mackay

ResearcherID Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2015-2024
Publications (10 Years): 5

Top Venues

American journal of medical genetics. Part A

Journal of medical genetics

The Journal of clinical endocrinology and metabolism

Nature communications

University of Southampton

This page only lists publications with an associated author ORCID identifier.

Affiliation History

University of Southampton Apr 01 2011

United Kingdom

Reader in Human Genetics :: Faculty of Medicine

Publications

Oluwakemi Lokulo-Sodipe, Hazel M Inskip, Christopher D Byrne, Jenny Child, Emma L Wakeling, Deborah J G Mackay, I Karen Temple, Justin Huw Davies
Body composition and metabolism in adults with molecularly-confirmed Silver-Russell syndrome. The Journal of clinical endocrinology and metabolism (2024)
Ahmed S N Alhendi, Gabriella Gazdagh, Derek Lim, Dominic McMullan, Michael Wright, I Karen Temple, Justin H Davies, Deborah J G Mackay
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. American journal of medical genetics. Part A (2023)
Deborah J G Mackay, I Karen Temple
Ongoing Challenges in the Diagnosis of 11p15.5-Associated Imprinting Disorders. Molecular diagnosis & therapy 26 (3) (2022)
Sarah E Grosvenor, Justin Huw Davies, Margaret Lever, Julie Sillibourne, Deborah J G Mackay, I Karen Temple
A patient with multilocus imprinting disturbance involving hypomethylation at 11p15 and 14q32, and phenotypic features of Beckwith-Wiedemann and Temple syndromes. American journal of medical genetics. Part A 188 (6) (2022)
Ahmed S N Alhendi, Derek Lim, Shane McKee, Meriel McEntagart, Katriona Tatton-Brown, I Karen Temple, Justin H Davies, Deborah J G Mackay
Whole-genome analysis as a diagnostic tool for patients referred for diagnosis of Silver-Russell syndrome: a real-world study. Journal of medical genetics (2021)
Louise E Docherty, Faisal I Rezwan, Rebecca L Poole, Claire L S Turner, Emma Kivuva, Eamonn R Maher, Sarah F Smithson, Julian P Hamilton-Shield, Michal Patalan, Maria Gizewska, Jaroslaw Peregud-Pogorzelski, Jasmin Beygo, Karin Buiting, Bernhard Horsthemke, Lukas Soellner, Matthias Begemann, Thomas Eggermann, Emma Baple, Sahar Mansour, I Karen Temple, Deborah J G Mackay
Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans. Nature communications 6 (2015)

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Publication Activity (10 Years)

Top Topics

Top Venues

Deborah J G Mackay