Research project

Mackay MR/J000329/1 Identifying factors required for genomic DNA methylation

Lead researchers:

Professor Deborah Mackay
Research funder:

Medical Research Council
Status:

Not active

Staff

Lead researchers

Professor Deborah Mackay

Professor of Medical Epigenetics

Connect with Deborah

Email: D.J.G.Mackay@soton.ac.uk

Research outputs

Trans-acting genetic variants causing multilocus imprinting disturbance (MLID)

Thomas Eggermann, Elzem Yapici, Jet Bliek, Arrate Pereda, Matthias Begemann, Silvia Russo, Pierpaola Tannorella, Luciano Calzari, Guiomar Perez De Nanclares, Paola Lombardi, I. Karen Temple, Deborah Mackay, Andrea Riccio, Masayo Kagami, Tsutomu Ogata, Pablo Lapunzina, David Monk, Eamonn R. Maher & Zeynep Tümer, 2022, Clinical Epigenetics, 14

DOI: 10.1186/s13148-022-01259-x

Type: article

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, Luciano Calzari, Naomi De Francesco, Rosita Del Prete, Orazio Palumbo, Massimo Carella, Deborah J. G. Mackay, Faisal I. Rezwan, Claudia Angelini, Flavia Cerrato, Maria Vittoria Cubellis & Andrea Riccio, 2019, Clinical Epigenetics, 11(1)

DOI: 10.1186/s13148-019-0760-8

Type: article

Genetic diagnosis of subfertility – the impact of meiosis and maternal effects

Alexander Gheldof, Deborah Mackay, Ying Cheong & Willem Verpoest, 2019, Journal of Medical Genetics, 56(5), 271-282

DOI: 10.1136/jmedgenet-2018-105513

Type: article

Genomic imprinting disorders: lessons on how genome, epigenome and environment interact

David Monk, Deborah Mackay, Thomas Eggermann, Eamonn R Maher & Andrea Riccio, 2019, Nature Reviews Genetics, 20(4), 235-248

DOI: 10.1038/s41576-018-0092-0

Type: article

Genome-wide methylation profiling of Beckwith Wiedemann syndrome patients without molecular confirmation after routine diagnostics

I.M. Krzyzewska, M. Alders, S.M. Maas, J. Bliek, A. Venema, P. Henneman, Faisal I Rezwan, K.V.D. Lip, A.N. Mul, Deborah Mackay & Marcel M.A.M. Mannens, 2019, Clinical Epigenetics, 11(1), 53

DOI: 10.1186/s13148-019-0649-6

Type: article