The genetic architecture of aniridia and Gillespie syndrome

بواسطة Hall, Hildegard Nikki, Williamson, Kathleen A., FitzPatrick, David R.
الحاوية / القاعدة Hum Genet (2018)

Update and critical appraisal of combined timolol and carbonic anhydrase inhibitors and the effect on ocular blood flow in glaucoma patients

بواسطة Moss, Adam M, Harris, Alon, Siesky, Brent, Rusia, Deepam, Williamson, Kathleen M, Shoshani, Yochai
منشور في 2010

Novel In Vitro Assays for the Characterization of EMT in Tumourigenesis

بواسطة Koo, Vincent, El Mekabaty, Amgad, Hamilton, Peter, Maxwell, Perry, Sharaf, Osama, Diamond, Jim, Watson, Jenny, Williamson, Kathleen
الحاوية / القاعدة Cell Oncol (2010)

Response of Inflammatory Cystoid Macular Edema to Treatment with Oral Acetazolamide

بواسطة Pepple, Kathryn L., Nguyen, Macklin H., Pakzad-Vaezi, Kaivon, Williamson, Kathleen, Odell, Naomi, Lee, Cecilia, Leveque, Thellea K., Van Gelder, Russell N.
الحاوية / القاعدة Retina (2019)

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

بواسطة De Silva, Daham, Williamson, Kathleen A., Dayasiri, Kavinda Chandimal, Suraweera, Nayani, Quinters, Vinushiya, Abeysekara, Hiranya, Wanigasinghe, Jithangi, De Silva, Deepthi, De Silva, Harendra
الحاوية / القاعدة BMC Pediatr (2018)

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

بواسطة 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.
منشور في 2009

Clinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single center

بواسطة Gerth-Kahlert, Christina, Williamson, Kathleen, Ansari, Morad, Rainger, Jacqueline K, Hingst, Volker, Zimmermann, Theodor, Tech, Stefani, Guthoff, Rudolf F, van Heyningen, Veronica, FitzPatrick, David R
منشور في 2013

A recurrent de novo mutation in ACTG1 causes isolated ocular coloboma

بواسطة 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
الحاوية / القاعدة Hum Mutat (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...

بواسطة 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
الحاوية / القاعدة BMC Pulm Med (2016)

Heterozygous Loss-of-Function Mutations in YAP1 Cause Both Isolated and Syndromic Optic Fissure Closure Defects

بواسطة Williamson, Kathleen A., Rainger, Joe, Floyd, James A.B., Ansari, Morad, Meynert, Alison, Aldridge, Kishan V., Rainger, Jacqueline K., Anderson, Carl A., Moore, Anthony T., Hurles, Matthew E., Clarke, Angus, van Heyningen, Veronica, Verloes, Alain, Taylor, Martin S., Wilkie, Andrew O.M., FitzPatrick, David R.
منشور في 2014

A secreted WNT-ligand-binding domain of FZD5 generated by a frameshift mutation causes autosomal dominant coloboma

بواسطة Liu, Chunqiao, Widen, Sonya A., Williamson, Kathleen A., Ratnapriya, Rinki, Gerth-Kahlert, Christina, Rainger, Joe, Alur, Ramakrishna P., Strachan, Erin, Manjunath, Souparnika H., Balakrishnan, Archana, Floyd, James A., Li, Tiansen, Waskiewicz, Andrew, Brooks, Brian P., Lehmann, Ordan J., FitzPatrick, David R., Swaroop, Anand
الحاوية / القاعدة Hum Mol Genet (2016)

Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridia

بواسطة Hall, Hildegard Nikki, Parry, David, Halachev, Mihail, Williamson, Kathleen A, Donnelly, Kevin, Parada, Jose Campos, Bhatia, Shipra, Joseph, Jeffrey, Holden, Simon, Prescott, Trine E, Bitoun, Pierre, Kirk, Edwin P, Newbury-Ecob, Ruth, Lachlan, Katherine, Bernar, Juan, van Heyningen, Veronica, FitzPatrick, David R, Meynert, Alison
الحاوية / القاعدة J Med Genet (2023)

NAA10 polyadenylation signal variants cause syndromic microphthalmia

بواسطة Johnston, Jennifer J, Williamson, Kathleen A, Chou, Christopher M, Sapp, Julie C, Ansari, Morad, Chapman, Heather M, Cooper, David N, Dabir, Tabib, Dudley, Jeffrey N, Holt, Richard J, Ragge, Nicola K, Schäffer, Alejandro A, Sen, Shurjo K, Salvotinek, Anne M, FitzPatrick, David R, Glaser, Thomas M, Stewart, Fiona, Black, Graeme CM, Biesecker, Leslie G
الحاوية / القاعدة J Med Genet (2019)

Heterozygous Mutations of OTX2 Cause Severe Ocular Malformations

بواسطة Ragge, Nicola K., Brown, Alison G., Poloschek, Charlotte M., Lorenz, Birgit, Henderson, R. Alex, Clarke, Michael P., Russell-Eggitt, Isabelle, Fielder, Alistair, Gerrelli, Dianne, Martinez-Barbera, Juan Pedro, Ruddle, Piers, Hurst, Jane, Collin, J. Richard O., Salt, Alison, Cooper, Simon T., Thompson, Pamela J., Sisodiya, Sanjay M., Williamson, Kathleen A., FitzPatrick, David R., Heyningen, Veronica van, Hanson, Isabel M.
منشور في 2005

SUN-219 Human Congenital Arhinia Is Associated with GnRH Deficiency and Primary Testicular Defects

بواسطة Delaney, Angela, Volochayev, Rita, Meader, Brooke, Lee, Janice, Almpani, Nadine, Noukelak, Germaine, Brooks, Brian, Henkind, Jennifer, Chalmers, Laura, Law, Jennifer, Williamson, Kathleen, Jacobsen, Christina, Buitrago, Tatiana Pineda, Silva, Orlando Perez, Chie-Hee, Cho, Kaindl, Angela, Anita, Rauch, steindl, Katharina, Garcia-Ortiz, Jose, Bart, Loeys, Russell, Bianca, Prasad, Rameshwar, Mondal, Uttam, Reigstad, Hallvard Martin, Clements, Scott, Salnikov, Kathryn, DiOrio, Nicole, Balasubramanian, Ravikumar, Dwyer, Andrew, Seminara, Stephanie, Crowley, William, Plummer, Lacey, Hall, Janet, Graham, John, Lin, Angela, Shaw, Natalie
الحاوية / القاعدة J Endocr Soc (2019)

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

بواسطة 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.
الحاوية / القاعدة Genet Med (2019)

Monoallelic and Biallelic Mutations in MAB21L2 Cause a Spectrum of Major Eye Malformations

بواسطة Rainger, Joe, Pehlivan, Davut, Johansson, Stefan, Bengani, Hemant, Sanchez-Pulido, Luis, Williamson, Kathleen A., Ture, Mehmet, Barker, Heather, Rosendahl, Karen, Spranger, Jürgen, Horn, Denise, Meynert, Alison, Floyd, James A.B., Prescott, Trine, Anderson, Carl A., Rainger, Jacqueline K., Karaca, Ender, Gonzaga-Jauregui, Claudia, Jhangiani, Shalini, Muzny, Donna M., Seawright, Anne, Soares, Dinesh C., Kharbanda, Mira, Murday, Victoria, Finch, Andrew, Gibbs, Richard A., van Heyningen, Veronica, Taylor, Martin S., Yakut, Tahsin, Knappskog, Per M., Hurles, Matthew E., Ponting, Chris P., Lupski, James R., Houge, Gunnar, FitzPatrick, David R.
منشور في 2014

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

بواسطة 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.
الحاوية / القاعدة Am J Hum Genet (2016)

Insight Into the Ontogeny of GnRH Neurons From Patients Born Without a Nose

بواسطة Delaney, Angela, Volochayev, Rita, Meader, Brooke, Lee, Janice, Almpani, Konstantinia, Noukelak, Germaine Y, Henkind, Jennifer, Chalmers, Laura, Law, Jennifer R, Williamson, Kathleen A, Jacobsen, Christina M, Buitrago, Tatiana Pineda, Perez, Orlando, Cho, Chie-Hee, Kaindl, Angela, Rauch, Anita, Steindl, Katharina, Garcia, Jose Elias, Russell, Bianca E, Prasad, Rameshwar, Mondal, Uttam K, Reigstad, Hallvard M, Clements, Scott, Kim, Susan, Inoue, Kaoru, Arora, Gazal, Salnikov, Kathryn B, DiOrio, Nicole P, Prada, Rolando, Capri, Yline, Morioka, Kosuke, Mizota, Michiyo, Zechi-Ceide, Roseli M, Kokitsu-Nakata, Nancy M, Tonello, Cristiano, Vendramini-Pittoli, Siulan, da Silva Dalben, Gisele, Balasubramanian, Ravikumar, Dwyer, Andrew A, Seminara, Stephanie B, Crowley, William F, Plummer, Lacey, Hall, Janet E, Graham, John M, Lin, Angela E, Shaw, Natalie D
الحاوية / القاعدة J Clin Endocrinol Metab (2020)

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

بواسطة 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.
الحاوية / القاعدة PLoS One (2016)