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American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|August 31, 2010
Transient neonatal diabetes mellitus type 1Deborah J G Mackay, I Karen TempleEuropean Journal of Medical Genetics|August 19, 2017
Human imprinting disorders: Principles, practice, problems and progressDeborah J G Mackay, I Karen TempleMolecular Diagnosis & Therapy|May 6, 2022
Ongoing Challenges in the Diagnosis of 11p15.5-Associated Imprinting DisordersDeborah J G Mackay, I Karen TempleMedical Humanities|August 9, 2018
Genetics, molar pregnancies and medieval ideas of monstrous births: the lump of flesh in The King of TarsNatalie Goodison, Deborah J G Mackay, I Karen TempleHuman Genetics|January 7, 2005
Bisulphite sequencing of the transient neonatal diabetes mellitus DMR facilitates a novel diagnostic test but reveals no methylation anomalies in patients of unknown aetiologyDeborah J G Mackay, I Karen Temple, Julian P H Shield, et al.American Journal of Medical Genetics. Part A|July 17, 2010
Investigation of 90 patients referred for molecular cytogenetic analysis using aCGH uncovers previously unsuspected anomalies of imprintingRebecca L Poole, Emma Baple, John A Crolla, et al.Journal of Clinical Research in Pediatric Endocrinology|February 2, 2023
Long-term Follow-up of a Late Diagnosed Patient with Temple SyndromeNikolinka Yordanova, Violeta Iotova, Deborah J G Mackay, et al.Journal of Medical Genetics|June 4, 2014
Temple syndrome: improving the recognition of an underdiagnosed chromosome 14 imprinting disorder: an analysis of 51 published casesYiannis Ioannides, Kemi Lokulo-Sodipe, Deborah J G Mackay, et al.American Journal of Medical Genetics. Part A|September 24, 2015
Temple syndrome as a result of isolated hypomethylation of the 14q32 imprinted DLK1/MEG3 regionTracy A Briggs, Kemi Lokulo-Sodipe, Kate E Chandler, et al.American Journal of Medical Genetics. Part A|March 10, 2022
A patient with multilocus imprinting disturbance involving hypomethylation at 11p15 and 14q32, and phenotypic features of Beckwith-Wiedemann and Temple syndromesSarah E Grosvenor, Justin H Davies, Margaret Lever, et al.Pageof 13