Kabuki syndrome: new ocular findings but no evidence of 8p22-p23.1 duplications in a clinically defined cohort

by Turner, Claire, Lachlan, Katherine, Amerasinghe, Nishani, Hodgkins, Peter, Maloney, Viv, Barber, John, Temple, I. Karen
Published 2005

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

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

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

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