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

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

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, Sara Guzzetti, Claudia Izzi, Angelo Selicorni, Daniela Melis, Karen Temple, Eamonn Maher, Frédéric Brioude, Irène Netchine & Thomas Eggermann, 2019, Genetics Research, 101, e3

DOI: 10.1017/S001667231900003X

Type: article

Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring

Matthias Begemann, Faisal I. Rezwan, Jasmin Beygo, Louise E. Docherty, Julia Kolarova, Christopher Schroeder, Karin Buiting, Kamal Chokkalingam, Franziska Degenhardt, Emma L. Wakeling, Stephanie Kleinle, Daniela González Fassrainer, Barbara Oehl-Jaschkowitz, Claire L.S. Turner, Michal Patalan, Maria Gizewska, Gerhard Binder, Can Thi Bich Ngoc, Vu Chi Dung, Sarju G. Mehta, Gareth Baynam, Julian P. Hamilton-Shield, Sara Aljareh, Oluwakemi Lokulo-Sodipe, Rachel Horton, Reiner Siebert, Miriam Elbracht, Isabel Karen Temple, Thomas Eggermann & Deborah J.G. Mackay, 2018, Journal of Medical Genetics, 55(7), 497-594

DOI: 10.1136/jmedgenet-2017-105190

Type: article