Transcriptome analysis of grain development in hexaploid wheat von Wan, Yongfang, Poole, Rebecca L, Huttly, Alison K, Toscano-Underwood, Claudia, Feeney, Kevin, Welham, Sue, Gooding, Mike J, Mills, Clare, Edwards, Keith J, Shewry, Peter R, Mitchell, Rowan Ac

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

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

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An atypical case of hypomethylation at multiple imprinted loci von Baple, Emma L, Poole, Rebecca L, Mansour, Sahar, Willoughby, Catherine, Temple, I Karen, Docherty, Louise E, Taylor, Rohan, Mackay, Deborah J G

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

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

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Expanding the neurodevelopmental phenotype associated with HK1 de novo heterozygous missense variants von Poole, Rebecca L., Badonyi, Mihaly, Cozens, Alison, Foulds, Nicola, Marsh, Joseph A., Rahman, Shamima, Ross, Alison, Schooley, Joanna, Straub, Volker, Quigley, Alan J., FitzPatrick, David, Lampe, Anne

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Analysis of wheat SAGE tags reveals evidence for widespread antisense transcription von Poole, Rebecca L, Barker, Gary L A, Werner, Kay, Biggi, Gaia F, Coghill, Jane, Gibbings, J George, Berry, Simon, Dunwell, Jim M, Edwards, Keith J

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Clustered variants in the 5′ coding region of TRA2B cause a distinctive neurodevelopmental syndrome von Ramond, Francis, Dalgliesh, Caroline, Grimmel, Mona, Wechsberg, Oded, Vetro, Annalisa, Guerrini, Renzo, FitzPatrick, David, Poole, Rebecca L., Lebrun, Marine, Bayat, Allan, Grasshoff, Ute, Bertrand, Miriam, Witt, Dennis, Turnpenny, Peter D., Faundes, Víctor, Santa María, Lorena, Mendoza Fuentes, Carolina, Mabe, Paulina, Hussain, Shaun A., Mullegama, Sureni V., Torti, Erin, Oehl-Jaschkowitz, Barbara, Salmon, Lina Basel, Orenstein, Naama, Shahar, Noa Ruhrman, Hagari, Ofir, Bazak, Lily, Hoffjan, Sabine, Prada, Carlos E., Haack, Tobias, Elliott, David J.

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Delineating the Smith‐Kingsmore syndrome phenotype: Investigation of 16 patients with the MTOR c.5395G > A p.(Glu1799Lys) missense variant von Poole, Rebecca L., Curry, Philippa D. K., Marcinkute, Ruta, Brewer, Carole, Coman, David, Hobson, Emma, Johnson, Diana, Lynch, Sally Ann, Saggar, Anand, Searle, Claire, Scurr, Ingrid, Turnpenny, Peter D., Vasudevan, Pradeep, Tatton‐Brown, Katrina

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RR21. The UK National Abdominal Aortic Screening Programme: Evidence for Review of Current Screening Protocols Based on Subgroup AAA Incidence in a South West London Cohort 2009-20... von Benson, Ruth A, Poole, Rebecca L, Murray, Shelagh, Loftus, Ian M

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

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Very small deletions within the NESP55 gene in pseudohypoparathyroidism type 1b von Rezwan, Faisal I, Poole, Rebecca L, Prescott, Trine, Walker, Joanna M, Karen Temple, I, Mackay, Deborah J G

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Deletions and rearrangements of the H19/IGF2 enhancer region in patients with Silver–Russell syndrome and growth retardation von Grønskov, Karen, Poole, Rebecca L, Hahnemann, Johanne M D, Thomson, Jennifer, Tümer, Zeynep, Brøndum-Nielsen, Karen, Murphy, Rinki, Ravn, Kirstine, Melchior, Linea, Dedic, Alma, Dolmer, Birgitte, Temple, I Karen, Boonen, Susanne E, Mackay, Deborah J G

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A statistical method for single sample analysis of HumanMethylation450 array data: genome-wide methylation analysis of patients with imprinting disorders von Rezwan, Faisal I, Docherty, Louise E, Poole, Rebecca L, Lockett, Gabrielle A, Arshad, S Hasan, Holloway, John W, Temple, I Karen, Mackay, Deborah Jg

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Investigation of 90 patients referred for molecular cytogenetic analysis using aCGH uncovers previously unsuspected anomalies of imprinting von Poole, Rebecca L., Baple, Emma, Crolla, John A., Temple, I. Karen, Mackay, Deborah J.G.

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Postpartum transabdominal laparoscopic adrenalectomy for pheochromocytoma presenting with abruption and hypertensive emergency von Warner, Katherine I, Poole-Ward, Rebecca L, Martinez, Ashley, Jones, Kim, Burgis, Judith T, Smith, R Stephen

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Delineating the Smith‐Kingsmore syndrome phenotype: Investigation of 16 patients with the MTOR c. 5395G  > A p.( Glu1799Lys ) missense variant von Poole, Rebecca L., Curry, Philippa D. K., Marcinkute, Ruta, Brewer, Carole, Coman, David, Hobson, Emma, Johnson, Diana, Lynch, Sally Ann, Saggar, Anand, Searle, Claire, Scurr, Ingrid, Turnpenny, Peter D., Vasudevan, Pradeep, Tatton‐Brown, Katrina

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Epigenotype–phenotype correlations in Silver–Russell syndrome von Wakeling, E L, Amero, S Abu, 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, Cobben, J M

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Deletions and rearrangements of the H19/IGF2 enhancer region in patients with Silver—Russell syndrome and growth retardation : Copy-number variation von GRØNSKOV, Karen, POOLE, Rebecca L, DOLMER, Birgitte, KAREN TEMPLE, I, BOONEN, Susanne E, MACKAY, Deborah J. G, HAHNEMANN, Johanne M. D, THOMSON, Jennifer, TÜMER, Zeynep, BRØNDUM-NIELSEN, Karen, MURPHY, Rinki, RAVN, Kirstine, MELCHIOR, Linea, DEDIC, Alma

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