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

by Rezwan, Faisal I., Poole, Rebecca L., Prescott, Trine, Walker, Joanna M., Temple, I. Karen, Mackay, Deborah J.G
Published 2015

Targeted methylation testing of a patient cohort broadens the epigenetic and clinical description of imprinting disorders

by Poole, Rebecca L., Docherty, Louise E., Al Sayegh, Abeer, Caliebe, Almuth, Turner, Claire, Baple, Emma, Wakeling, Emma, Harrison, Lucy, Lehmann, Anna, Temple, I. Karen, Mackay, Deborah J.G
Published 2013

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

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