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

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

Recent Advances in imprinting disorders

Lukas Soellner, Matthias Begemann, Deborah JG Mackay, Karen Grønskov, Zeynep Tümer, Eamonn R Maher, I. Karen Temple, David Monk, Andrea Riccio, Agnès Linglart, Irène Netchine & Thomas Eggermann, 2017, Clinical Genetics, 91(1), 3-13

DOI: 10.1111/cge.12827

Type: article

DNA methylation profiling of uniparental disomy cases provides a map of parental epigenetic bias in the human genome

R.S. Joshi, P. Garg, N. Zaitlen, T. Lappalainen, C. Watson, N. Azam, D.H. Ho, Xin Li, S. Antonarakis, Han Brunner, K. Buiting, S.W. Cheung, B. Coffee, T. Eggermann, D. Francis, J. Geraedts, G. Gimelli, S. Jacobson, C. Le Caignec, N. de Leeuw, T. Liehr, Deborah Mackay, S. Montgomery, A. Pagnamenta, P. Papenhausen, D. Robinson, C. Ruivenkamp, C. Schwartz, B. Steiner, D. Stevenson, U. Surti, T. Wassink & A.J. Sharp, 2016, The American Journal of Human Genetics, 99(3), 555-566

DOI: 10.1016/j.ajhg.2016.06.032

Type: article

Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci

Thomas Eggermann, Guiomar Perez de Nanclares, Eamonn R. Maher, I. Karen Temple, Zeynep Tümer, David Monk, Deborah J. G. Mackay, Karen Grønskov, Andrea Riccio, Agnès Linglart & Irène Netchine, 2015, Clinical Epigenetics, 7(123), 1-18

DOI: 10.1186/s13148-015-0143-8

Type: article

Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans

Louise E. Docherty, Faisal I. Rezwan, Rebecca L. Poole, Claire L.S. Turner, Emma Kivuva, Eamonn R. Maher, Sarah F. Smithson, Julian P. Hamilton-Shield, Michal Patalan, Maria Gizewska, Jaroslaw Peregud-Pogorzelski, Jasmin Beygo, Karin Buiting, Bernhard Horsthemke, Lukas Soellner, Matthias Begemann, Thomas Eggermann, Emma Baple, Sahar Mansour, I. Karen Temple & Deborah J.G. Mackay, 2015, Nature Communications, 6

DOI: 10.1038/ncomms9086

Type: article