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

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Temple syndrome: improving the recognition of an underdiagnosed chromosome 14 imprinting disorder: an analysis of 51 published cases von Ioannides, Yiannis, Lokulo-Sodipe, Kemi, Mackay, Deborah J G, Davies, Justin H, Temple, I Karen

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Pathogenicity and selective constraint on variation near splice sites von 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

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Mutations in the pre-replication complex cause Meier-Gorlin syndrome von Bicknell, Louise S, Bongers, Ernie M H F, Leitch, Andrea, Brown, Stephen, Schoots, Jeroen, Harley, Margaret E, Aftimos, Salim, Al-Aama, Jumana Y, Bober, Michael, Brown, Paul A J, 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, Sarda, Pierre, Ross, Alison, Temple, I Karen, Toutain, Annick, Wise, Carol A, Wright, Michael, Jackson, Andrew P

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Mutations in PIK3R1 Cause SHORT Syndrome von 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

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A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect von 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.

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Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging von 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

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Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders von 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

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Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57 von 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

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Elements of morphology: General terms for congenital anomalies von Hennekam, Raoul C., Biesecker, Leslie G., Allanson, Judith E., Hall, Judith G., Opitz, John M., Temple, I Karen, Carey, John C.

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Activating mutations in BRAF disrupt the hypothalamo-pituitary axis leading to hypopituitarism in mice and humans von 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

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A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome von 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.

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Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure von Mulchandani, Surabhi, Bhoj, Elizabeth J., Luo, Minjie, Powell-Hamilton, Nina, Jenny, Kim, Gripp, Karen W., Elbracht, Miriam, Eggermann, Thomas, Turner, Claire L.S., Temple, I. Karen, Mackay, Deborah J.G., Dubbs, Holly, Stevenson, David A., Slattery, Leah, Zackai, Elaine H., Spinner, Nancy B., Krantz, Ian D., Conlin, Laura K.

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Long-term Follow-up of a Late Diagnosed Patient with Temple Syndrome von Yordanova, Nikolinka, Iotova, Violeta, Mackay, Deborah J G, Temple, I Karen, Stoyanova, Sara, Hachmeriyan, Mari

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Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height von 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

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Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype von Tatton-Brown, Katrina, Murray, Anne, Hanks, Sandra, Douglas, Jenny, Armstrong, Ruth, Banka, Siddharth, Bird, Lynne M., Clericuzio, Carol L., Cormier-Daire, Valerie, Cushing, Tom, Flinter, Frances, Jacquemont, Marie-Line, Joss, Shelagh, Kinning, Esther, Lynch, Sally Ann, Magee, Alex, McConnell, Vivienne, Medeira, Ana, Ozono, Keiichi, Patton, Michael, Rankin, Julia, Shears, Debbie, Simon, Marleen, Splitt, Miranda, Strenger, Volker, Stuurman, Kyra, Taylor, Clare, Titheradge, Hannah, Van Maldergem, Lionel, Temple, I. Karen, Cole, Trevor, Seal, Sheila, Rahman, Nazneen

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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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Clinical utility gene card for: Beckwith-Wiedemann Syndrome von Eggermann, Thomas, Algar, Elizabeth, Lapunzina, Pablo, Mackay, Deborah, Maher, Eamonn R, Mannens, Marcel, Netchine, Irène, Prawitt, Dirk, Riccio, Andrea, Temple, I Karen, Weksberg, Rosanna

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Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences von Eggermann, Thomas, Yapici, Elzem, Bliek, Jet, Pereda, Arrate, Begemann, Matthias, Russo, Silvia, Tannorella, Pierpaola, Calzari, Luciano, de Nanclares, Guiomar Perez, Lombardi, Paola, Temple, I Karen, Mackay, Deborah, Riccio, Andrea, Kagami, Masayo, Ogata, Tsutomu, Lapunzina, Pablo, Monk, David, Maher, Eamonn R, Tümer, Zeynep

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First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders von Mackay, Deborah, Bliek, Jet, Kagami, Masayo, Tenorio-Castano, Jair, Pereda, Arrate, Brioude, Frédéric, Netchine, Irène, Papingi, Dzhoy, de Franco, Elisa, Lever, Margaret, Sillibourne, Julie, Lombardi, Paola, Gaston, Véronique, Tauber, Maithé, Diene, Gwenaelle, Bieth, Eric, Fernandez, Luis, Nevado, Julian, Tümer, Zeynep, Riccio, Andrea, Maher, Eamonn R, Beygo, Jasmin, Tannorella, Pierpaola, Russo, Silvia, de Nanclares, Guiomar Perez, Temple, I. Karen, Ogata, Tsutomu, Lapunzina, Pablo, Eggermann, Thomas

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