Clinical utility gene card for: Silver–Russell syndrome

gan Eggermann, Thomas, Buiting, Karin, Temple, I Karen
Cyhoeddwyd 2011

Clinical utility gene card for: Transient Neonatal Diabetes Mellitus, 6q24-related

gan Mackay, Deborah, Bens, Susanne, Perez de Nanclares, Guiomar, Siebert, Reiner, Temple, I Karen
Cyhoeddwyd 2014

Defining Morphology: Hands and Feet

gan Biesecker, Leslie G., Aase, Jon M., Clericuzio, Carol, Gurrieri, Fiorella, Temple, I. Karen, Toriello, Helga
Cyhoeddwyd 2009

A primary care specialist genetics service: a cluster-randomised factorial trial

gan Westwood, Greta, Pickering, Ruth, Latter, Sue, Little, Paul, Gerard, Karen, Lucassen, Anneke, Temple, I Karen
Cyhoeddwyd 2012

An atypical case of hypomethylation at multiple imprinted loci

gan Baple, Emma L, Poole, Rebecca L, Mansour, Sahar, Willoughby, Catherine, Temple, I Karen, Docherty, Louise E, Taylor, Rohan, Mackay, Deborah J G
Cyhoeddwyd 2011

Congenital imprinting disorders: EUCID.net - a network to decipher their aetiology and to improve the diagnostic and clinical care

gan Eggermann, Thomas, Netchine, Irène, Temple, I Karen, Tümer, Zeynep, Monk, David, Mackay, Deborah, Grønskov, Karin, Riccio, Andrea, Linglart, Agnès, Maher, Eamonn R
Cyhoeddwyd yn Clin Epigenetics (2015)

The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study

gan De Franco, Elisa, Flanagan, Sarah E, Houghton, Jayne AL, Allen, Hana Lango, Mackay, Deborah JG, Temple, I Karen, Ellard, Sian, Hattersley, Andrew T
Cyhoeddwyd yn Lancet (2015)

Beckwith–Wiedemann syndrome caused by maternally inherited mutation of an OCT-binding motif in the IGF2/H19-imprinting control region, ICR1

gan Poole, Rebecca L, Leith, Donald J, Docherty, Louise E, Shmela, Mansur E, Gicquel, Christine, Splitt, Miranda, Temple, I Karen, Mackay, Deborah J G
Cyhoeddwyd 2012

A statistical method for single sample analysis of HumanMethylation450 array data: genome-wide methylation analysis of patients with imprinting disorders

gan Rezwan, Faisal I, Docherty, Louise E, Poole, Rebecca L, Lockett, Gabrielle A, Arshad, S Hasan, Holloway, John W, Temple, I Karen, Mackay, Deborah JG
Cyhoeddwyd yn Clin Epigenetics (2015)

NSD1 Mutations Are the Major Cause of Sotos Syndrome and Occur in Some Cases of Weaver Syndrome but Are Rare in Other Overgrowth Phenotypes

gan Douglas, Jenny, Hanks, Sandra, Temple, I. Karen, Davies, Sally, Murray, Alexandra, Upadhyaya, Meena, Tomkins, Susan, Hughes, Helen E., Cole, Trevor R. P., Rahman, Nazneen
Cyhoeddwyd 2003

A 28-kb Deletion Spanning D15S63 (PW71) in Five Families: A Rare Neutral Variant?

gan Buiting, Karin, Dittrich, Bärbel, Dworniczak, Bernd, Lerer, Israela, Abeliovich, Dvorah, Cottrell, Sally, Temple, I. Karen, Harvey, John F., Lich, Christina, Groß, Stephanie, Horsthemke, Bernhard
Cyhoeddwyd 1999

Clinical utility gene card for: Beckwith–Wiedemann Syndrome

gan Eggermann, Thomas, Algar, Elizabeth, Lapunzina, Pablo, Mackay, Deborah, Maher, Eamonn R, Mannens, Marcel, Netchine, Irène, Prawitt, Dirk, Riccio, Andrea, Temple, I Karen, Weksberg, Rosanna
Cyhoeddwyd 2014

Genome-wide DNA methylation analysis of transient neonatal diabetes type 1 patients with mutations in ZFP57

gan Bak, Mads, Boonen, Susanne E., Dahl, Christina, Hahnemann, Johanne M. D., Mackay, Deborah J. D. G., Tümer, Zeynep, Grønskov, Karen, Temple, I. Karen, Guldberg, Per, Tommerup, Niels
Cyhoeddwyd yn BMC Med Genet (2016)

Megalencephaly Syndromes: Exome Pipeline Strategies for Detecting Low-Level Mosaic Mutations

gan Tapper, William J., Foulds, Nicola, Cross, Nicholas C. P., Aranaz, Paula, Score, Joannah, Hidalgo-Curtis, Claire, Robinson, David O., Gibson, Jane, Ennis, Sarah, Temple, I. Karen, Collins, Andrew
Cyhoeddwyd 2014

Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci

gan Eggermann, Thomas, Perez de Nanclares, Guiomar, Maher, Eamonn R., Temple, I. Karen, Tümer, Zeynep, Monk, David, Mackay, Deborah J. G., Grønskov, Karen, Riccio, Andrea, Linglart, Agnès, Netchine, Irène
Cyhoeddwyd yn Clin Epigenetics (2015)

Erratum to: Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci

gan Eggermann, Thomas, de Nanclares, Guiomar Perez, Maher, Eamonn R., Temple, I. Karen, Tümer, Zeynep, Monk, David, Mackay, Deborah J. G., Grønskov, Karen, Riccio, Andrea, Linglart, Agnès, Netchine, Irène
Cyhoeddwyd yn Clin Epigenetics (2016)

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

gan Docherty, Louise E, Rezwan, Faisal I, Poole, Rebecca L, Jagoe, Hannah, Lake, Hannah, Lockett, Gabrielle A, Arshad, Hasan, Wilson, David I, Holloway, John W, Temple, I Karen, Mackay, Deborah J G
Cyhoeddwyd 2014

Phenotype of genetically confirmed Silver-Russell syndrome beyond childhood

gan Lokulo-Sodipe, Oluwakemi, Ballard, Lisa, Child, Jenny, Inskip, Hazel M, Byrne, Christopher D, Ishida, Miho, Moore, Gudrun E, Wakeling, Emma L, Fenwick, Angela, Mackay, Deborah J G, Davies, Justin Huw, Temple, I Karen
Cyhoeddwyd yn J Med Genet (2020)

Genotype-Phenotype Associations in Sotos Syndrome: An Analysis of 266 Individuals with NSD1 Aberrations

gan Tatton-Brown, Katrina, Douglas, Jenny, Coleman, Kim, Baujat, Geneviève, Cole, Trevor R. P., Das, Soma, Horn, Denise, Hughes, Helen E., Temple, I. Karen, Faravelli, Francesca, Waggoner, Darrel, Türkmen, Seval, Cormier-Daire, Valérie, Irrthum, Alexandre, Rahman, Nazneen
Cyhoeddwyd 2005

Role of Noninsulin Therapies Alone or in Combination in Chromosome 6q24-Related Transient Neonatal Diabetes: Sulfonylurea Improves but Does Not Always Normalize Insulin Secretion

gan Carmody, David, Beca, Flavius A., Bell, Charles D., Hwang, Jessica L., Dickens, Jazzmyne T., Devine, Nancy A., Mackay, Deborah J.G., Temple, I. Karen, Hays, Lisa R., Naylor, Rochelle N., Philipson, Louis H., Greeley, Siri Atma W.
Cyhoeddwyd yn Diabetes Care (2015)