The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study
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
Published in The Lancet (British edition) (05.09.2015)
Published in The Lancet (British edition) (05.09.2015)
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Journal Article
Temple syndrome: improving the recognition of an underdiagnosed chromosome 14 imprinting disorder: an analysis of 51 published cases
Ioannides, Yiannis, Lokulo-Sodipe, Kemi, Mackay, Deborah J G, Davies, Justin H, Temple, I Karen
Published in Journal of Medical Genetics (01.08.2014)
Published in Journal of Medical Genetics (01.08.2014)
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Book Review
Activating mutations in BRAF disrupt the hypothalamo-pituitary axis leading to hypopituitarism in mice and humans
Gualtieri, Angelica, Kyprianou, Nikolina, Gregory, Louise C, Vignola, Maria Lillina, Nicholson, James G, Tan, Rachael, Inoue, Shin-Ichi, Scagliotti, Valeria, Casado, Pedro, Blackburn, James, Abollo-Jimenez, Fernando, Marinelli, Eugenia, Besser, Rachael E J, Högler, Wolfgang, Karen Temple, I, Davies, Justin H, Gagunashvili, Andrey, Robinson, Iain C A F, Camper, Sally A, Davis, Shannon W, Cutillas, Pedro R, Gevers, Evelien F, Aoki, Yoko, Dattani, Mehul T, Gaston-Massuet, Carles
Published in Nature communications (01.04.2021)
Published in Nature communications (01.04.2021)
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Journal Article
Mutations in the pre-replication complex cause Meier-Gorlin syndrome
BICKNELL, Louise S, BONGERS, Ernie M.h F, VAN BOKHOVEN, Hans, DEAN, John, EDREES, Alaa Y, FEINGOLD, Murray, FRYER, Alan, HOEFSLOOT, Lies H, KAU, Nikolaus, KNOERS, Nine V.a M, MACKENZIE, James, OPITZ, John M, LEITCH, Andrea, SARDA, Pierre, ROSS, Alison, KAREN TEMPLE, I, TOUTAIN, Annick, WISE, Carol A, WRIGHT, Michael, JACKSON, Andrew P, BROWN, Stephen, SCHOOTS, Jeroen, HARLEY, Margaret E, AFTIMOS, Salim, AL-AAMA, Jumana Y, BOBER, Michael, BROWN, Paul A. J
Published in Nature genetics (01.04.2011)
Published in Nature genetics (01.04.2011)
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Journal Article
Whole-genome analysis as a diagnostic tool for patients referred for diagnosis of Silver-Russell syndrome: a real-world study
Alhendi, Ahmed S N, Lim, Derek, McKee, Shane, McEntagart, Meriel, Tatton-Brown, Katriona, Temple, I Karen, Davies, Justin H, Mackay, Deborah J G
Published in Journal of medical genetics (01.06.2022)
Published in Journal of medical genetics (01.06.2022)
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Journal Article
Phenotype of genetically confirmed Silver-Russell syndrome beyond childhood
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
Published in Journal of medical genetics (01.10.2020)
Published in Journal of medical genetics (01.10.2020)
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Journal Article
Pathogenicity and selective constraint on variation near splice sites
Lord, Jenny, Gallone, Giuseppe, Short, Patrick J, McRae, Jeremy F, Ironfield, Holly, Wynn, Elizabeth H, Gerety, Sebastian S, He, Liu, Kerr, Bronwyn, Johnson, Diana S, McCann, Emma, Kinning, Esther, Flinter, Frances, Temple, I Karen, Clayton-Smith, Jill, McEntagart, Meriel, Lynch, Sally Ann, Joss, Shelagh, Douzgou, Sofia, Dabir, Tabib, Clowes, Virginia, McConnell, Vivienne P M, Lam, Wayne, Wright, Caroline F, FitzPatrick, David R, Firth, Helen V, Barrett, Jeffrey C, Hurles, Matthew E
Published in Genome research (01.02.2019)
Published in Genome research (01.02.2019)
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Journal Article
Beckwith-Wiedemann syndrome caused by maternally inherited mutation of an OCT-binding motif in the IGF2 H19-imprinting control region, ICR1
POOLE, Rebecca L, LEITH, Donald J, DOCHERTY, Louise E, SHMELA, Mansur E, GICQUEL, Christine, SPLITT, Miranda, KAREN TEMPLE, I, MACKAY, Deborah Jg
Published in European journal of human genetics : EJHG (01.02.2012)
Published in European journal of human genetics : EJHG (01.02.2012)
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Journal Article
Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging
Jeffries, Aaron R, Maroofian, Reza, Salter, Claire G, Chioza, Barry A, Cross, Harold E, Patton, Michael A, Dempster, Emma, Temple, I Karen, Mackay, Deborah J G, Rezwan, Faisal I, Aksglaede, Lise, Baralle, Diana, Dabir, Tabib, Hunter, Matthew F, Kamath, Arveen, Kumar, Ajith, Newbury-Ecob, Ruth, Selicorni, Angelo, Springer, Amanda, Van Maldergem, Lionel, Varghese, Vinod, Yachelevich, Naomi, Tatton-Brown, Katrina, Mill, Jonathan, Crosby, Andrew H, Baple, Emma L
Published in Genome research (01.07.2019)
Published in Genome research (01.07.2019)
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Journal Article
Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders
Pagnamenta, Alistair T, Murakami, Yoshiko, Taylor, John M, Anzilotti, Consuelo, Howard, Malcolm F, Miller, Venessa, Johnson, Diana S, Tadros, Shereen, Mansour, Sahar, Temple, I Karen, Firth, Rachel, Rosser, Elisabeth, Harrison, Rachel E, Kerr, Bronwen, Popitsch, Niko, Kinoshita, Taroh, Taylor, Jenny C, Kini, Usha
Published in European journal of human genetics : EJHG (01.06.2017)
Published in European journal of human genetics : EJHG (01.06.2017)
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Journal Article
Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57
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, Temple, I Karen
Published in Nature genetics (01.08.2008)
Published in Nature genetics (01.08.2008)
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Journal Article
Evidence for anticipation in Beckwith-Wiedemann syndrome
Berland, Siren, Appelbäck, Mia, Bruland, Ove, Beygo, Jasmin, Buiting, Karin, Mackay, Deborah J G, Karen Temple, I, Houge, Gunnar
Published in European journal of human genetics : EJHG (01.12.2013)
Published in European journal of human genetics : EJHG (01.12.2013)
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Journal Article
Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height
Tatton-Brown, Katrina, Hanks, Sandra, Ruark, Elise, Zachariou, Anna, Duarte, Silvana Del Vecchio, Ramsay, Emma, Snape, Katie, Murray, Anne, Perdeaux, Elizabeth R, Seal, Sheila, Loveday, Chey, Banka, Siddharth, Clericuzio, Carol, Flinter, Frances, Magee, Alex, McConnell, Vivienne, Patton, Michael, Raith, Wolfgang, Rankin, Julia, Splitt, Miranda, Strenger, Volker, Taylor, Clare, Wheeler, Patricia, Temple, Karen I, Cole, Trevor, Douglas, Jenny, Rahman, Nazneen
Published in Oncotarget (01.12.2011)
Published in Oncotarget (01.12.2011)
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Journal Article
Mutations in PIK3R1 Cause SHORT Syndrome
Dyment, David A., Smith, Amanda C., Alcantara, Diana, Schwartzentruber, Jeremy A., Basel-Vanagaite, Lina, Curry, Cynthia J., Temple, I. Karen, Reardon, William, Mansour, Sahar, Haq, Mushfequr R., Gilbert, Rodney, Lehmann, Ordan J., Vanstone, Megan R., Beaulieu, Chandree L., Majewski, Jacek, Bulman, Dennis E., O’Driscoll, Mark, Boycott, Kym M., Innes, A. Micheil
Published in American journal of human genetics (11.07.2013)
Published in American journal of human genetics (11.07.2013)
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Journal Article
Transient neonatal diabetes mellitus type 1
Mackay, Deborah J.G., Temple, I. Karen
Published in American journal of medical genetics. Part C, Seminars in medical genetics (15.08.2010)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (15.08.2010)
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Journal Article
A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect
McEntagart, Meriel, Williamson, Kathleen A., Rainger, Jacqueline K., Wheeler, Ann, Seawright, Anne, De Baere, Elfride, Verdin, Hannah, Bergendahl, L. Therese, Quigley, Alan, Rainger, Joe, Dixit, Abhijit, Sarkar, Ajoy, López Laso, Eduardo, Sanchez-Carpintero, Rocio, Barrio, Jesus, Bitoun, Pierre, Prescott, Trine, Riise, Ruth, McKee, Shane, Cook, Jackie, McKie, Lisa, Ceulemans, Berten, Meire, Françoise, Temple, I. Karen, Prieur, Fabienne, Williams, Jonathan, Clouston, Penny, Németh, Andrea H., Banka, Siddharth, Bengani, Hemant, Handley, Mark, Freyer, Elisabeth, Ross, Allyson, van Heyningen, Veronica, Marsh, Joseph A., Elmslie, Frances, FitzPatrick, David R.
Published in American journal of human genetics (05.05.2016)
Published in American journal of human genetics (05.05.2016)
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Journal Article
A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome
Twigg, Stephen R.F., Hufnagel, Robert B., Miller, Kerry A., Zhou, Yan, McGowan, Simon J., Taylor, John, Craft, Jude, Taylor, Jenny C., Santoro, Stephanie L., Huang, Taosheng, Hopkin, Robert J., Brady, Angela F., Clayton-Smith, Jill, Clericuzio, Carol L., Grange, Dorothy K., Groesser, Leopold, Hafner, Christian, Horn, Denise, Temple, I. Karen, Dobyns, William B., Curry, Cynthia J., Jones, Marilyn C., Wilkie, Andrew O.M.
Published in American journal of human genetics (02.06.2016)
Published in American journal of human genetics (02.06.2016)
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Journal Article
Transition Metal-Catalyzed Formation of Boron−Nitrogen Bonds: Catalytic Dehydrocoupling of Amine-Borane Adducts to Form Aminoboranes and Borazines
Jaska, Cory A, Temple, Karen, Lough, Alan J, Manners, Ian
Published in Journal of the American Chemical Society (06.08.2003)
Published in Journal of the American Chemical Society (06.08.2003)
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