Listed below are just some of the publications written by memebrs of the Wessex Imprinting Group.
Poole, Rebecca L., Leith, Donald J., Docherty, Louise E., Shmela, Mansur E., Gicquel, Christine, Splitt, Miranda, Temple, I. Karen and Mackay, Deborah J.G. (2011) Beckwith–Wiedemann syndrome caused by maternally inherited mutation of an OCT-binding motif in the IGF2/H19-imprinting control region, ICR1. European Journal of Human Genetics
Gronskov, Karen, Poole, Rebecca L., Hahnemann, Johanne M.D., Thomson, Jennifer, Tumer, Zeynup, Brondum-Nielsen, Karen, Murphy, Rinki, Ravn, Kirstine, Melchior, Linea, Dedic, Alma, Dolmer, Birgitte, Temple, I. Karen, Boonen, Susanne E. and Mackay, Deborah J.G. (2011) Deletions and rearrangements of the H19/IGF2 enhancer region in patients with Silver-Russell syndrome and growth retardation. Journal of Medical Genetics, 48, (5), 308-311.
Søvik, Oddmund, Aagenaes, Øystein, Eide, Stig Å., Mackay, Deborah, Temple, Isabel K, Molven, Anders and Njølstad, Pål R. (2011) Familial occurrence of neonatal diabetes with duplications in chromosome 6q24: treatment with sulfonylurea and 40-yr follow-up. Pediatric Diabetes
Baple, Emma L., Poole, Rebecca L., Mansour, Sahar, Willoughby, Catherine, Temple, I. Karen, Docherty, Louise E., Taylor, Rohan and Mackay, Deborah J.G. (2011) An atypical case of hypomethylation at multiple imprinted loci. European Journal of Human Genetics, 19, (3), 360-362.
Docherty, L.E., Poole, R, Mattocks, C.J., Lehmann, A., Temple, I.K. and Mackay, D.J.G. (2010) Further refinement of the critical minimal genetic region for the imprinting disorder 6q24 transient neonatal diabetes. Diabetologia, 53, (11), 2347-2351.
Wakeling, E.L., Amero, S.A., Alders, M., Bliek, J., Forsythe, E., Kumar, S., Lim, D.H., MacDonald, F., Mackay, D.J., Maher, E.R., Moore, G.E., Poole, R.L., Price, S.M., Tangeraas, T., Turner, C.L.S., Van Haelst, M.M., Willoughby, C., Temple, I.K. and Cobben, J.M. (2010) Epigenotype-phenotype correlations in Silver-Russell syndrome. Journal of Medical Genetics, 47, (11), 760-768.
Sharp, Andrew J., Migliavacca, Eugenia, Dupre, Yann, Stathaki, Elisavet, Sailani, Mohammad Reza, Baumer, Alessandra, Schinzel, Albert, Mackay, Deborah J., Robinson, David O., Cobellis, Gilda, Cobellis, Luigi, Brunner, Han G., Steiner, Bernhard and Antonarakis, Stylianos E. (2010) Methylation profiling in individuals with uniparental disomy identifies novel differentially methylated regions on chromosome 15. Genome Research, 20, (9), 1271-1278.
Mackay, D.J. and Temple, I.K. (2010) Transient neonatal diabetes mellitus type 1. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 154C, (3), 335-342.
Poole, Rebbeca L., Baple, Emma, Crolla, John A., Temple, I.Karen and Mackay, Deborah J.G. (2010) Investigation of 90 patients referred for molecular cytogenetic analysis using aCGH uncovers previously unsuspected anomalies of imprinting. American Journal of Medical Genetics Part A, 152A, (8), 1990-1993.
Turner, Claire Louise, Mackay, Deborah M., Callaway, Jonathan L.A., Docherty, Louise E., Poole, Rebecca L., Bullman, Hilary, Lever, Margaret, Castle, Bruce M., Kivuva, Emma C., Turnpenny, Peter D., Mehta, Sarju G., Mansour, Sahar, Wakeling, Emma L., Mathew, Verghese, Madden, Jackie, Davies, Justin H. and Temple, I. Karen (2010) Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci. European Journal of Human Genetics, 18, (6), 648-655.
Laborie, Lene Bjerke, Mackay, Deborah J.G., Temple, I. Karen, Molven, Anders, Søvik, Oddmund and Njølstad, Pål Rasmus (2010) DNA hypomethylation, transient neonatal diabetes, and prune belly sequence in one of two identical twins. European Journal of Pediatrics, 169, (2), 207-213.
Balasubramanian, M., Shield, J.P., Acerini, C.L., Walker, J., Ellard, S., Marchand, M., Polak, M., Vaxillaire, M., Crolla, J.A., Bunyan, D.J., Mackay, D.J. and Temple, I.K. (2010) Pancreatic hypoplasia presenting with neonatal diabetes mellitus in association with congenital heart defect and developmental delay. American Journal of Medical Genetics Part A, 152A, (2), 340-346.
Wiedemann, B., Schober, E., Waldhoer, T., Koehle, J., Flanagan, S.E., Mackay, D.J., Steichen, E., Meranzer, D., Zimmerhackl, L.B., Hattersley, A.T., Ellard, S. and Hofer, S. (2010) Incidence of neonatal diabetes in Austria-calculation based on the Austrian Diabetes Register. Pediatric Diabetes, 11, (1), 18-23.
Bliek, Jet, Alders, Marielle, Maas, Saskia M., Oostra, Roelof-Jan, Mackay, Deborah M., van der Lip, Karin, Callaway, Johnatan L., Brooks, Alice, van 't Padje, Sandra, Westerveld, Andries, Leschot, Nico J. and Mannens, Marcel M.A.M. (2009) Lessons from BWS twins: complex maternal and paternal hypomethylation and a common source of haematopoietic stem cells. European Journal of Human Genetics, 17, (12), 1625-1634.
Kenny, Alan P., Crimmins, Nancy A., Mackay, Deborah J.G., Hopkin, Robert J., Bove, Kevin E. and Leonis, Mike A. (2009) Concurrent course of transient neonatal diabetes with cholestasis and paucity of interlobular bile ducts: a case report. Pediatric and Developmental Pathology, 12, (5), 417-420.
Bliek, Jet, Verde, Gaetano, Callaway, Jonathan, Maas, Saskia M., De Crescenzo, Agostina, Sparago, Angela, Cerrato, Flavia, Russo, Silvia, Ferraiuolo, Serena, Rinaldi, Maria Michela, Fischetto, Rita, Lalatta, Faustina, Giordano, Lucio, Ferrari, Paolo, Cubellis, Mara Vittoria, Larizza, Lidia, Temple, I. Karen, Mannens, Marcel M.A.M., Mackay, Deborah J.G. and Riccio, Andrea (2009) Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome. European Journal of Human Genetics, 17, (5), 611-619.
Martin-Subero, Jose, Bibikova, Marina, Mackay, Deborah, Wickham-Garcia, Eliza, Sellami, Nadia, Richter, Julia, Santer, Rene, Caliebe, Almuth, Fan, Jian-Bing, Temple, Karen and Siebert, Siebert (2008) Microarray-based DNA methylation analysis of imprinted loci in a patient with transient neonatal diabetes mellitus. American Journal of Medical Genetics Part A, 146A, (24), 3227-3229.
Mackay, Deborah J.G., Callaway, Jonathan L.A., Marks, Sophie M., White, Helen E., Acerini, Carlo L., Boonen, Susanne E., Dayanikli, Pinar, Firth, Helen V., Goodship, Judith A., Haemers, Andreas P., Hahnemann, Johanne M.D., Kordonouri, Olga, Masoud, Ahmed F., Oestergaard, Elsebet, Storr, John, Ellard, Sian, Hattersley, Andrew T., Robinson, David O. and Temple, I. Karen (2008) Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57. Nature Genetics, 40, (8), 949-951.
Shield, J.P., Flanagan, S.E., Mackay, D.J., Harries, L.W., Proks, P., Girard, C., Ashcroft, F.M., Temple, I.K. and Ellard, S. (2008) Mosaic paternal uniparental isodisomy and an ABCC8 gene mutation in a patient with permanent neonatal diabetes and hemihypertrophy. Diabetes, 57, (1), 255-258.
Bullman, H., Lever, M., Robinson, D.O., Mackay, D.J., Holder, S.E. and Wakeling, E.L. (2008) Mosaic maternal uniparental disomy of chromosome 11 in a patient with Silver-Russell syndrome. Journal of Medical Genetics, 45, (6), 396-399.
Boonen, S.E., Porksen, S., Mackay, D.J., Oestergaard, E., Olsen, B., Brondum-Nielsen, K., Temple, I.K. and Hahnemann, J.M. (2008) Clinical characterisation of the multiple maternal hypomethylation syndrome in siblings. European Journal of Human Genetics, 16, (4), 453-461.
Flanagan, Sarah E., Patch, Ann-Marie, Mackay, Deborah J.G., Edghill, Emma L., Gloyn, Anna L., Robinson, David, Shield, Julian P.H., Temple, Karen, Ellard, Sian and Hattersley, Andrew T. (2007) Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood. Diabetes, 56, (7), 1930-1937.
Temple, K., Davies, E.J., Robinson, D.O. and Mackay, D.J.G. (2007) 6q24 transient neonatal diabetes: more than just diabetes. Journal of Medical Genetics, 44, pp.S30.
Temple, K., Davies, E. J., Robinson, D. O. and Mackay, D. J. G. (2007) 6q24 transient neonatal diabetes - more than just diabetes5. Journal of Medical Genetics, 44, S30-S30.
Turner, C.L., Bunyan, D.J., Thomas, N.S., Mackay, D.J., Jones, H.P., Waterham, H.R., Wanders, R.J. and Temple, I.K. (2007) Zellweger syndrome resulting from maternal isodisomy of chromosome. American Journal of Medical Genetics part A, 143A, (18), 2172-2177.
Ellard, S., Flanagan, S.E., Girard, C.A., Patch, A.M., Harries, L.W., Parrish, A., Edghill, E.L., Mackay, D.J., Proks, P., Shimomura, K.H., Carson, D.J., Shield, J.P., Hattersley, A.T. and Ashcroft, F.M. (2007) Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects. American Journal of Human Genetics, 81, (2), 375-382.
Temple, I.K., Shrubb, V., Lever, M., Bullman, H. and Mackay, D.J. (2007) Isolated imprinting mutation of the DLK1/GTL2 locus associated with a clinical presentation of maternal uniparental disomy of chromosome 14. Journal of Medical Genetics, 44, (10), 637-640.
Milenkovic, T., Martic, J., Robinson, D.O., Mackay, D.J., Petrovic, K. and Zdravkovic, D. (2006) Transient neonatal diabetes mellitus in an infant with paternal uniparental disomy of chromosome 6 including heterodisomy for 6q24. Journal of Pediatric Endocrinology & Metabolism, 19, (11), 1353-1357.
Mackay, D.J.G., Boonen, S.E., Clayton-Smith, J., Goodship, J., Hahnemann, J.M.D., Kant, S.G., Njølstad, P.R., Robin, N.H., Robinson, D.O., Siebert, R., Shield, J.P.H., White, H.E. and Temple, I.K. (2006) A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus. Human Genetics, 120, (2), 262-269.
Gloyn, Anna L., Mackay, Deborah J.G., Weedon, Michael N., McCarthy, Mark I., Walker, Mark, Hitman, Graham, Knight, Bridget A., Owen, Katharine R., Hattersley, Andrew T. and Frayling, Timothy M. (2006) Assessment of the role of common genetic variation in the transient neonatal diabetes mellitus (TNDM) region in type 2 diabetes: a comparative genomic and tagging single nucleotide polymorphism approach. Diabetes, 55, (8), 2272-2276.
Mackay, D., Robinson, D.O., Boonen, S.E., Clayton-Smith, J., Goodship, J., Hahnemann, J.M.D., Kant, S.G., Njolstad, P.A.L., Robin, N.H., Siebert, R., Shield, J.P.H., White, H.E. and Temple, I.K. (2006) A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus. Journal of Medical Genetics, 43, pp.S17.
Mackay, D.J.G., Hahnemann, J.M.D., Boonen, S.E., Poerksen, S., Bunyan, D.J., White, H.E., Durston, V.J., Thomas, N.S., Robinson, D.O., Shield, J.P.H., Clayton-Smith, J. and Temple, I.K. (2006) Epimutation of the TNDM locus and the Beckwith-Wiedemann syndrome centromeric locus in individuals with transient neonatal diabetes mellitus. Human Genetics, 119, (1-2), 179-184.
Gloyn, A.L., Mackay, D.J.G., Weedon, M.N., McCarthy, M.I., Walker, M., Hitman, G., Sampson, M., Knight, B.A., Hattersley, A.T. and Frayling, T.M. (2005) Assessment of the role of genetic variation in the transient neonatal diabetes (TNDM) region on chromosome 6q24 in type 2 diabetes: a comparative genomic and haplotype approach. Diabetologia, 48, (Supplement 1), p.A119.
Kant, S.G., Van der Weij, A.M., Oostdijk, W., Wit, J.M., Robinson, D.O., Temple, I.K. and Mackay, D.J. (2005) Monozygous triplets discordant for transient neonatal diabetes mellitus and for imprinting of the TNDM differentially methylated region. Human Genetics, 117, (4), 398-401. (doi:10.1007/s00439-005-1304-1)
Mackay, Deborah J.G., Temple, I. Karen, Shield, Julian P.H. and Robinson, David O. (2005) Bisulphite sequencing of the transient neonatal diabetes mellitus DMR facilitates a novel diagnostic test but reveals no methylation anomalies in patients of unknown aetiology. Human Genetics, 116, (4), 255-261.
Gloyn, Anna L., Reimann, Frank, Girard, Christophe, Edghill, Emma L., Proks, Peter, Pearson, Ewan R., Temple, I. Karen, Mackay, Deborah J.G., Shield, Julian P.H., Freedenberg, Debra, Noyes, Kathryn, Ellard, Sian, Ashcroft, Frances M., Gribble, Fiona M. and Hattersley, Andrew T. (2005) Relapsing diabetes can result from moderately activating mutations in KCNJ11. Human Molecular Genetics, 14, (7), 925-934. (doi:10.1093/hmg/ddi086)
Mudher, Amritpal K., Mackay, Daniel, Chee, Francis, Shepherd, David and Lovestone, Simon (2004) Axonal transport and behavioural defects in Drosophila expressing wild-type and mutant tau. Neurobiology of Aging, 25, (Supplement 2), p.S253. (doi:10.1016/S0197-4580(04)80849-2)
Shield, J.P.H., Temple, I.K., Sabin, M., Mackay, D., Robinson, D.O., Betts, P.R., Carson, D.J., Cavé, H., Chevenne, D. and Polak, M. (2004) An assessment of pancreatic endocrine function and insulin sensitivity in patients with transient neonatal diabetes in remission. [In, Fetal and Neonatal edition]. Archives of Disease in Childhood, 89, (4), F341-F343.
Gloyn, Anna L., Pearson, Ewan R., Antcliff, Jennifer F., Proks, Peter, Bruining, Jan, Slingerland, Annabelle S., Howard, Neville, Srinivasan, Shubha, Silva, José M.C.L., Molnes, Janne, Edghill, Emma L., Frayling, Timothy M., Temple, I. Karen, Mackay, Deborah, Shield, Julain P.H., Sumnik, Zdenek, Van Rhijn, Adrian, Wales, J.erry K.H., Clark, Penelope, Gorman, Shaun, Aisenberg, Javier, Ellard, Sian, Njolstad, Pal R., Ashcroft, Frances M. and Hattersley, Andrew T. (2004) Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes. New England Journal of Medicine, 350, (18), 1838-1849.
Ellard, S., Gloyn, A.L., Edghill, E.L., Pearson, E.R., Mackay, D., Temple, I.K., Shield, J., Noyes, K., Gillespie, K.M., Lambert, A.P. and Gale, E.A.M. (2004) Activating mutations in the KCNJ11 gene encoding the ATP-sensitive potassium channel subunit Kir6.2 are associated with a spectrum of early-onset syndromic and non-syndromic diabetes. Journal of Medical Genetics, 41, pp.S19.
Gloyn, A. L., Edghill, E. L., Pearson, E. R., Mackay, D. J. G., Temple, I. K., Shield, J. P. H., Noyes, K., Freedenberg, D., Gillespie, K. M., Lambert, A. P., Gale, E. A., Ellard, S. and Hattersley, A. T. (2004) Multiple subtypes of diabetes are associated with activating mutations in KCNJ11, which encodes the Kir6.2 sub-unit of the beta-cell ATP sensitive potassium (K-ATP) channel. Diabetologia, 47, A82-A83.
Gloyn, A.L., Ellard, S., Shield, J.P., Temple, I.K., Mackay, D.J., Polak, M., Barrett, T. and Hattersley, A.T. (2002) Letter to the editor: Observation. Complete glucokinase deficiency is not a common cause of permanent neonatal diabetes. Diabetologia, 45, (2), p.290.
Mackay, D.J.G., Coupe, A.M., Shield, J.P.H., Storr, J.N.P., Temple, I.K. and Robinson, D.O. (2002) Relaxation of imprinted expression of ZAC and HYMAI in a patient with transient neonatal diabetes mellitus. Human Genetics, 110, (2), 139-144.
Gloyn, A.L., Mackay, D.J.G., Shield, J.P., Temple, I.K., Robinson, D.O., Walker, M., McCarthy, M.I., Frayling, T.M. and Hattersley, A.T. (2002) Analysis of the imprinted transient neonatal diabetes critical region (ZAC/HYMAI) locus in Type 2 diabetes parent-offspring trios. Diabetologia, 45, A121-A122.
Shield, J., Owen, K., Robinson, D.O., Mackay, D., Ellard, S., Hattersley, A. and Temple, I.K. (2001) Letter. Observations. Maturity onset diabetes of the young (MODY) and early onset type II diabetes are not caused by loss of imprinting at the transient neonatal diabetes (TNDM) locus. Diabetologia, 44, (7), 924-924.
Varrault, A., Bilanges, B., Mackay, D.J., Basyuk, E., Ahr, B.C., Fernandez, C., Robinson, D.O., Bockaert, J. and Journot, L. (2001) Characterization of the methylation-sensitive promoter of the imprinted ZAC gene supports its role in transient neonatal diabetes mellitus. Journal of Biological Chemistry, 276, (22), 18653-18656.
Temple, I.K., Mackay, D.J.G., Coupe, A.M., Cave, H., Polak, M., Siebert, R., Barber, J.C.K., Robinson, D.O. and Shield, J.P.H. (2001) Transient Neonatal Diabetes: the 6q24 phenotype. American Journal of Human Genetics, 69, (4), p.194.
Valerio, G., Franzese, A., Palmieri, A., Mackay, D.J.G., Gardner, R.J. and Temple, I.K. (2001) Central precocious puberty in a girl with triple X syndrome and neonatal diabetes mellitus associated with paternal isodisomy of chromosome 6. Journal of Pediatric Endocrinology and Metabolism, 14, (7), 897-900.
Gloyn, A.L., Ellard, S., Shield, J.P.H., Temple, I.K., Mackay, D.J.G., Barrett, T. and Hattersley, A.T. (2001) Complete glucokinase deficiency is not a common cause of permanent neonatal diabetes in European cases of neonatal diabetes. American Journal of Human Genetics, 69, (4), p.607.