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: [email protected]

Research outputs

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

Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure

Surabhi Mulchandani, Elizabeth J. Bhoj, Minjie Luo, Nina Powell-Hamilton, Kim Jenny, Karen W. Gripp, Miriam Elbracht, Thomas Eggermann, Claire L. S. Turner, I. Karen Temple, Deborah J. G. Mackay, Holly Dubbs, David A. Stevenson, Leah Slattery, Elaine H. Zackai, Nancy B. Spinner, Ian D. Krantz & Laura K. Conlin, 2015, Genetics in Medicine, 18(4), 309-315

DOI: 10.1038/gim.2015.103

Type: article