Research project

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

Lead researcher:

Professor Deborah Mackay
Research funder:

Medical Research Council
Status:

Not active

Staff

Lead researcher

Professor Deborah Mackay

Professor of Medical Epigenetics

Connect with Deborah

Email: d.j.g.mackay@soton.ac.uk

Research outputs

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

Very small deletions within the NESP55 gene in pseudohypoparathyroidism type 1b

Faisal I. Rezwan,

Rebecca L. Poole,

Trine Prescott,

Joanna M. Walker,

I. Karen Temple,

& Deborah J.G. Mackay

, 2015 , European Journal of Human Genetics , 23 (4) , 494--499

DOI: 10.1038/ejhg.2014.133

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

Genome-wide DNA methylation analysis of patients with imprinting disorders identifies differentially methylated regions associated with novel candidate imprinted genes

L.E. Docherty,

F.I. Rezwan,

R.L. Poole,

H. Jagoe,

H. Lake,

G.A. Lockett,

H. Arshad,

D.I. Wilson,

J.W. Holloway,

I.K. Temple,

& D.J.G. Mackay

, 2014 , Journal of Medical Genetics , 51 (4) , 229--238

DOI: 10.1136/jmedgenet-2013-102116

Type: article