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

Staff

Lead researcher

Professor Deborah Mackay

Professor of Medical Epigenetics

Connect with Deborah

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

Research outputs

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

Clinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome:

Frédéric Brioude, Jennifer M. Kalish, Alessandro Mussa, Alison C. Foster, Jet Bliek, Giovanni Battista Ferrero, Susanne E. Boonen, Trevor Cole, Robert Baker, Monica Bertoletti, Guido Cocchi, Carole Coze, Maurizio De Pellegrin, Khalid Hussain, Abdulla Ibrahim, Mark D. Kilby, Malgorzata Krajewska-Walasek, Christian P. Kratz, Edmund J. Ladusans, Pablo Lapunzina, Yves Le Bouc, Saskia M. Maas, Fiona Macdonald, Katrin Õunap, Licia Peruzzi, Sylvie Rossignol, Silvia Russo, Caroleen Shipster, Agata Skórka, Katrina Tatton-Brown, Jair Tenorio, Chiara Tortora, Karen Grønskov, Irène Netchine, Raoul C. Hennekam, Dirk Prawitt, Zeynep Tümer, Thomas Eggermann, Deborah J.G. Mackay, Andrea Riccio & Eamonn R. Maher, 2018, Nature Reviews Endocrinology, 14(4), 229-249

DOI: 10.1038/nrendo.2017.166

Type: article

Human imprinting disorders

Deborah J.G. Mackay & Isabel Temple, 2017, European Journal of Medical Genetics, 60(11), 618-626

DOI: 10.1016/j.ejmg.2017.08.014

Type: article

Diagnosis and management of Silver-Russell syndrome: first international consensus statement

E. Wakeling, F. Brioude, K. Lokulo-Sodipe, S.M. O'Connell, J. Salem, J. Bliek, A. Canton, K.H. Chrzanowska, J.H. Davies, R. Dias, B. Dubern, M. Elbracht, E. Giabicani, A. Grimberg, K. Groenskov, A. Hokken-Koelega, A.A. Jorge, M. Kagami, A. Linglart, M. Maghnie, K. Mohnike, D. Monk, G. Moore, P.G. Murray, T. Ogata, I. Oliver Petit, S. Russo, E. Said, M. Toumba, Z. Tumer, G. Binder, T. Eggermann, M.D. Harbison, I.K. Temple, D.J.G. Mackay & I. Netchine, 2017, Nature Reviews Endocrinology, 13(2), 105-124

DOI: 10.1038/nrendo.2016.138

Type: article