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ArticlesPeer ReviewedFull Text
The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study
Author / Creator:De Franco, Elisa, PhD ; Flanagan, Sarah E, PhD ; Houghton, Jayne AL, PhD ; Allen, Hana Lango, PhD ; Mackay, Deborah JG, PhD ; Temple, I Karen, Prof ; Ellard, Sian, Prof ; Hattersley, Andrew T, Prof
Publisher:England: Elsevier Ltd
Journal title:The Lancet (British edition), 2015-09, Vol.386 (9997), p.957-963
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EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver–Russell and Beckwith–Wiedemann syndrome
Author / Creator:Eggermann, Katja ; Bliek, Jet ; Brioude, Frédéric ; Algar, Elizabeth ; Buiting, Karin ; Russo, Silvia ; Tümer, Zeynep ; Monk, David ; Moore, Gudrun ; Antoniadi, Thalia ; Macdonald, Fiona ; Netchine, Irène ; Lombardi, Paolo ; Soellner, Lukas ; Begemann, Matthias ; Prawitt, Dirk ; Maher, Eamonn R ; Mannens, Marcel ; Riccio, Andrea ; Weksberg, Rosanna ; Lapunzina, Pablo ; Grønskov, Karen ; Mackay, Deborah JG ; Eggermann, Thomas
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2016-10, Vol.24 (10), p.1377-1387
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ArticlesPeer ReviewedFull Text
Very small deletions within the NESP55 gene in pseudohypoparathyroidism type 1b
Author / Creator:Rezwan, Faisal I ; Poole, Rebecca L ; Prescott, Trine ; Walker, Joanna M ; Karen Temple, I ; Mackay, Deborah JG
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2015-04, Vol.23 (4), p.494-499
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ArticlesPeer ReviewedFull Text
Prenatal molecular testing for Beckwith–Wiedemann and Silver–Russell syndromes: a challenge for molecular analysis and genetic counseling
Author / Creator:Eggermann, Thomas ; Brioude, Frédéric ; Russo, Silvia ; Lombardi, Maria P ; Bliek, Jet ; Maher, Eamonn R ; Larizza, Lidia ; Prawitt, Dirk ; Netchine, Irène ; Gonzales, Marie ; Grønskov, Karen ; Tümer, Zeynep ; Monk, David ; Mannens, Marcel ; Chrzanowska, Krystyna ; Walasek, Malgorzata K ; Begemann, Matthias ; Soellner, Lukas ; Eggermann, Katja ; Tenorio, Jair ; Nevado, Julián ; Moore, Gudrun E ; Mackay, Deborah JG ; Temple, Karen ; Gillessen-Kaesbach, Gabriele ; Ogata, Tsutomu ; Weksberg, Rosanna ; Algar, Elizabeth ; Lapunzina, Pablo
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2016-06, Vol.24 (6), p.784-793
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ArticlesPeer ReviewedFull Text
Beckwith–Wiedemann syndrome caused by maternally inherited mutation of an OCT-binding motif in the IGF2/H19-imprinting control region, ICR1
Author / Creator:Poole, Rebecca L ; Leith, Donald J ; Docherty, Louise E ; Shmela, Mansur E ; Gicquel, Christine ; Splitt, Miranda ; Temple, I Karen ; Mackay, Deborah J G
Publisher:Cham: Springer International Publishing
Journal title:European journal of human genetics : EJHG, 2012-02, Vol.20 (2), p.240-243
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ArticlesPeer ReviewedFull Text
Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci
Author / Creator:Turner, Claire Louise Susan ; 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 ; Temple, I Karen
Publisher:Cham: Springer International Publishing
Journal title:European journal of human genetics : EJHG, 2010-06, Vol.18 (6), p.648-655
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ArticlesPeer ReviewedFull Text
Neonatal diabetes in Ukraine: incidence, genetics, clinical phenotype and treatment
Author / Creator:Globa, Evgenia ; Zelinska, Nataliya ; Mackay, Deborah J.G. ; Temple, Karen I. ; Houghton, Jayne A.L. ; Hattersley, Andrew T. ; Flanagan, Sarah E. ; Ellard, Sian
Publisher:Germany: De Gruyter
Journal title:Journal of Pediatric Endocrinology & Metabolism, 2015-11, Vol.28 (11), p.1279-1286
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ArticlesPeer ReviewedFull Text
Transient Neonatal Diabetes Mellitus followed by recurrent asymptomatic hypoglycaemia: a case report
Author / Creator:Priyadarshi, Archana ; Verge, Charles F. ; Vandervliet, Leah ; Mackay, Deborah JG ; Bolisetty, Srinivas
Publisher:England: BioMed Central Ltd
Journal title:BMC pediatrics, 2015-12, Vol.15 (1), p.200-200, Article 200
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ArticlesPeer ReviewedFull Text
An atypical case of hypomethylation at multiple imprinted loci
Author / Creator:Baple, Emma L ; Poole, Rebecca L ; Mansour, Sahar ; Willoughby, Catherine ; Temple, I Karen ; Docherty, Louise E ; Taylor, Rohan ; Mackay, Deborah J G
Publisher:Cham: Springer International Publishing
Journal title:European journal of human genetics : EJHG, 2011-03, Vol.19 (3), p.360-362
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ArticlesPeer ReviewedFull Text
Chromosome 6q24 transient neonatal diabetes mellitus and protein sensitive hyperinsulinaemic hypoglycaemia
Author / Creator:Kalaivanan, Prabhakaran ; Arya, Ved Bhushan ; Shah, Pratik ; Datta, Vipan ; Flanagan, Sarah E. ; Mackay, Deborah J.G. ; Ellard, Sian ; Senniappan, Senthil ; Hussain, Khalid
Publisher:Germany: De Gruyter
Journal title:Journal of Pediatric Endocrinology & Metabolism, 2014-11, Vol.27 (11), p.1065-1069
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ArticlesPeer ReviewedFull Text
A statistical method for single sample analysis of HumanMethylation450 array data: genome-wide methylation analysis of patients with imprinting disorders
Author / Creator:Rezwan, Faisal I ; Docherty, Louise E ; Poole, Rebecca L ; Lockett, Gabrielle A ; Arshad, S Hasan ; Holloway, John W ; Temple, I Karen ; Mackay, Deborah JG
Publisher:Germany: BioMed Central Ltd
Journal title:Clinical epigenetics, 2015-04, Vol.7 (1), p.48, Article 48
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ArticlesPeer ReviewedFull Text
Clinical characterisation of the multiple maternal hypomethylation syndrome in siblings
Author / Creator:Boonen, Susanne E ; Pörksen, Sven ; Mackay, Deborah J G ; Oestergaard, Elsebet ; Olsen, Birthe ; Brondum-Nielsen, Karen ; Temple, I Karen ; Hahnemann, Johanne M D
Publisher:Cham: Springer International Publishing
Journal title:European journal of human genetics : EJHG, 2008-04, Vol.16 (4), p.453-461
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ArticlesPeer ReviewedFull Text
DNA hypomethylation, transient neonatal diabetes, and prune belly sequence in one of two identical twins
Author / Creator:Laborie, Lene Bjerke ; Mackay, Deborah J. G. ; Temple, I. Karen ; Molven, Anders ; Søvik, Oddmund ; Njølstad, Pål Rasmus
Publisher:Berlin/Heidelberg: Springer-Verlag
Journal title:European journal of pediatrics, 2010-02, Vol.169 (2), p.207-213
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ArticlesPeer ReviewedFull Text
Mutations in ATP-Sensitive K super(+) Channel Genes Cause Transient Neonatal Diabetes and Permanent Diabetes in Childhood or Adulthood
Author / Creator:Flanagan, Sarah E ; Patch, Ann-Marie ; Mackay, Deborah JG ; Edghill, Emma L ; Gloyn, Anna L ; Robinson, David ; Shield, Julian PH ; Temple, Karen ; Ellard, Sian ; Hattersley, Andrew T
Journal title:Diabetes (New York, N.Y.), 2007-07, Vol.56 (7), p.1930-1937
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ArticlesPeer ReviewedFull Text
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 appro...
Author / Creator: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 ; FRAYLING, Timothy M
Publisher:Alexandria, VA: American Diabetes Association
Journal title:Diabetes (New York, N.Y.), 2006-08, Vol.55 (8), p.2272-2276
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The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study

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EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver–Russell and Beckwith–Wiedemann syndrome

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

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Prenatal molecular testing for Beckwith–Wiedemann and Silver–Russell syndromes: a challenge for molecular analysis and genetic counseling

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

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Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci

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Neonatal diabetes in Ukraine: incidence, genetics, clinical phenotype and treatment

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Transient Neonatal Diabetes Mellitus followed by recurrent asymptomatic hypoglycaemia: a case report

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An atypical case of hypomethylation at multiple imprinted loci

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Chromosome 6q24 transient neonatal diabetes mellitus and protein sensitive hyperinsulinaemic hypoglycaemia

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

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Clinical characterisation of the multiple maternal hypomethylation syndrome in siblings

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DNA hypomethylation, transient neonatal diabetes, and prune belly sequence in one of two identical twins

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Mutations in ATP-Sensitive K super(+) Channel Genes Cause Transient Neonatal Diabetes and Permanent Diabetes in Childhood or Adulthood

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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 appro...

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