Publications by authors named "Deborah Mackay"

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Clinical Characteristics and Remission Monitoring of 6q24-Related Transient Neonatal Diabetes.
Michael E McCullough, Lisa R Letourneau-Freiberg, Tiana L Bowden, Balamurugan Kandasamy, Angela Ray, Deborah J G Mackay

Pediatr Diabetes· April 2025

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Long-term Follow-up of a Late Diagnosed Patient with Temple Syndrome.
Nikolinka Yordanova, Violeta Iotova, Deborah J G Mackay, I Karen Temple, Sara Stoyanova

J Clin Res Pediatr Endocrinol· December 2024

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Body Composition and Metabolism in Adults With Molecularly Confirmed Silver-Russell Syndrome.
Oluwakemi Lokulo-Sodipe, Hazel M Inskip, Christopher D Byrne, Jenny Child, Emma L Wakeling, Deborah J G Mackay

J Clin Endocrinol Metab· October 2024

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Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis.
Deborah J G Mackay, Gabriella Gazdagh, David Monk, Frederic Brioude, Eloise Giabicani

Clin Epigenetics· August 2024

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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, Dominic McMullan, Michael Wright, Deborah J G Mackay

Am J Med Genet A· February 2024

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First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders.
Deborah Mackay, Jet Bliek, Masayo Kagami, Jair Tenorio-Castano, Arrate Pereda

Clin Epigenetics· November 2022

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Height and body mass index in molecularly confirmed Silver-Russell syndrome and the long-term effects of growth hormone treatment.
Oluwakemi Lokulo-Sodipe, Eloïse Giabicani, Ana P M Canton, Nawfel Ferrand, Jenny Child, Deborah J G Mackay

Clin Endocrinol (Oxf)· September 2022

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Whole-genome analysis as a diagnostic tool for patients referred for diagnosis of Silver-Russell syndrome: a real-world study.
Ahmed S N Alhendi, Derek Lim, Shane McKee, Meriel McEntagart, Katriona Tatton-Brown, Deborah J G Mackay

J Med Genet· June 2022

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A patient with multilocus imprinting disturbance involving hypomethylation at 11p15 and 14q32, and phenotypic features of Beckwith-Wiedemann and Temple syndromes.
Sarah E Grosvenor, Justin H Davies, Margaret Lever, Julie Sillibourne, Deborah J G Mackay

Am J Med Genet A· June 2022

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Ongoing Challenges in the Diagnosis of 11p15.5-Associated Imprinting Disorders.
Deborah J G Mackay, I Karen Temple

Mol Diagn Ther· May 2022

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Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences.
Thomas Eggermann, Elzem Yapici, Jet Bliek, Arrate Pereda, Matthias Begemann, Deborah Mackay

Clin Epigenetics· March 2022

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Experiences of adolescents living with Silver-Russell syndrome.
Lisa Marie Ballard, Elizabeth Jenkinson, Christopher D Byrne, Jenny C Child, Hazel Inskip, Deborah J G Mackay

Arch Dis Child· December 2021

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Phenotype of genetically confirmed Silver-Russell syndrome beyond childhood.
Oluwakemi Lokulo-Sodipe, Lisa Ballard, Jenny Child, Hazel M Inskip, Christopher D Byrne, Deborah J G Mackay

J Med Genet· October 2020

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Disturbed genomic imprinting and its relevance for human reproduction: causes and clinical consequences.
Miriam Elbracht, Deborah Mackay, Matthias Begemann, Karl Oliver Kagan, Thomas Eggermann

Hum Reprod Update· February 2020

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The phenotypic variations of multi-locus imprinting disturbances associated with maternal-effect variants of NLRP5 range from overt imprinting disorder to apparently healthy phenotype.
Angela Sparago, Ankit Verma, Maria Grazia Patricelli, Laura Pignata, Silvia Russo, Deborah J G Mackay

Clin Epigenetics· December 2019

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Growth Hormone Improves Short-Term Growth in Patients with Temple Syndrome.
Diana S Brightman, Oluwakemi Lokulo-Sodipe, Beverly A Searle, Deborah J G Mackay, Justin H Davies

Horm Res Paediatr· August 2019

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Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging.
Aaron R Jeffries, Reza Maroofian, Claire G Salter, Barry A Chioza, Harold E Cross, Deborah J G Mackay

Genome Res· July 2019

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Genetic diagnosis of subfertility: the impact of meiosis and maternal effects.
Alexander Gheldof, Deborah J G Mackay, Ying Cheong, Willem Verpoest

J Med Genet· May 2019

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Genomic imprinting disorders: lessons on how genome, epigenome and environment interact.
David Monk, Deborah J G Mackay, Thomas Eggermann, Eamonn R Maher, Andrea Riccio

Nat Rev Genet· April 2019

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Genetics, molar pregnancies and medieval ideas of monstrous births: the lump of flesh in .
Natalie Goodison, Deborah J G Mackay, I Karen Temple

Med Humanit· March 2019

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Discrepant molecular and clinical diagnoses in Beckwith-Wiedemann and Silver-Russell syndromes.
Deborah J G Mackay, Jet Bliek, Maria Paola Lombardi, Silvia Russo, Luciano Calzari

Genet Res (Camb)· March 2019

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A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers.
Kym M Boycott, Taila Hartley, Leslie G Biesecker, Richard A Gibbs, A Micheil Innes, Deborah Mackay

Cell· March 2019

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Lived experience of Silver-Russell syndrome: implications for management during childhood and into adulthood.
Lisa Marie Ballard, Elizabeth Jenkinson, Christopher D Byrne, Jenny C Child, Justin Huw Davies, Deborah J G Mackay

Arch Dis Child· January 2019

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