The genetic architecture of aniridia and Gillespie syndrome

por Hall, Hildegard Nikki, Williamson, Kathleen A., FitzPatrick, David R.
Publicado 2018

Gillespie syndrome in a South Asian child: a case report with confirmation of a heterozygous mutation of the ITPR1 gene and review of the clinical and molecular features

por De Silva, Daham, Williamson, Kathleen A., Dayasiri, Kavinda Chandimal, Suraweera, Nayani, Quinters, Vinushiya, Abeysekara, Hiranya, Wanigasinghe, Jithangi, De Silva, Deepthi, De Silva, Harendra
Publicado 2018

A rare de novo nonsense mutation in OTX2 causes early onset retinal dystrophy and pituitary dysfunction

por Henderson, Robert H., Williamson, Kathleen A., Kennedy, Joanna S., Webster, Andrew R., Holder, Graham E., Robson, Anthony G., FitzPatrick, David R., van Heyningen, Veronica, Moore, Anthony T.
Publicado 2009

A recurrent de novo mutation in ACTG1 causes isolated ocular coloboma

por Rainger, Joe, Williamson, Kathleen A, Soares, Dinesh C, Truch, Julia, Kurian, Dominic, Gillessen‐Kaesbach, Gabriele, Seawright, Anne, Prendergast, James, Halachev, Mihail, Wheeler, Ann, McTeir, Lynn, Gill, Andrew C, van Heyningen, Veronica, Davey, Megan G, FitzPatrick, David R
Publicado 2017

A randomised controlled trial of supplemental oxygen versus medical air during exercise training in people with chronic obstructive pulmonary disease: supplemental oxygen in pulmon...

por Alison, Jennifer A, McKeough, Zoe J, Jenkins, Sue C, Holland, Anne E, Hill, Kylie, Morris, Norman R, Leung, Regina WM, Williamson, Kathleen A, Spencer, Lissa M, Hill, Catherine J, Lee, Annemarie L, Seale, Helen, Cecins, Nola, McDonald, Christine F
Publicado 2016

Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA–protein interaction

por Williamson, Kathleen A., Hall, H. Nikki, Owen, Liusaidh J., Livesey, Benjamin J., Hanson, Isabel M., Adams, G. G. W., Bodek, Simon, Calvas, Patrick, Castle, Bruce, Clarke, Michael, Deng, Alexander T., Edery, Patrick, Fisher, Richard, Gillessen-Kaesbach, Gabriele, Heon, Elise, Hurst, Jane, Josifova, Dragana, Lorenz, Birgit, McKee, Shane, Meire, Francoise, Moore, Anthony T., Parker, Michael, Reiff, Charlotte M., Self, Jay, Tobias, Edward S., Verheij, Joke B. G. M., Willems, Marjolaine, Williams, Denise, van Heyningen, Veronica, Marsh, Joseph A., FitzPatrick, David R.
Publicado 2019

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

por 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.
Publicado 2016

Genetic Analysis of ‘PAX6-Negative’ Individuals with Aniridia or Gillespie Syndrome

por Ansari, Morad, Rainger, Jacqueline, Hanson, Isabel M., Williamson, Kathleen A., Sharkey, Freddie, Harewood, Louise, Sandilands, Angela, Clayton-Smith, Jill, Dollfus, Helene, Bitoun, Pierre, Meire, Francoise, Fantes, Judy, Franco, Brunella, Lorenz, Birgit, Taylor, David S., Stewart, Fiona, Willoughby, Colin E., McEntagart, Meriel, Khaw, Peng Tee, Clericuzio, Carol, Van Maldergem, Lionel, Williams, Denise, Newbury-Ecob, Ruth, Traboulsi, Elias I., Silva, Eduardo D., Madlom, Mukhlis M., Goudie, David R., Fleck, Brian W., Wieczorek, Dagmar, Kohlhase, Juergen, McTrusty, Alice D., Gardiner, Carol, Yale, Christopher, Moore, Anthony T., Russell-Eggitt, Isabelle, Islam, Lily, Lees, Melissa, Beales, Philip L., Tuft, Stephen J., Solano, Juan B., Splitt, Miranda, Hertz, Jens Michael, Prescott, Trine E., Shears, Deborah J., Nischal, Ken K., Doco-Fenzy, Martine, Prieur, Fabienne, Temple, I. Karen, Lachlan, Katherine L., Damante, Giuseppe, Morrison, Danny A., van Heyningen, Veronica, FitzPatrick, David R.
Publicado 2016