The genetic architecture of aniridia and Gillespie syndrome

di Hall, Hildegard Nikki, Williamson, Kathleen A., FitzPatrick, David R.
Pubblicato in Hum Genet (2018)

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

di Moss, Adam M, Harris, Alon, Siesky, Brent, Rusia, Deepam, Williamson, Kathleen M, Shoshani, Yochai
Pubblicazione 2010

Novel In Vitro Assays for the Characterization of EMT in Tumourigenesis

di Koo, Vincent, El Mekabaty, Amgad, Hamilton, Peter, Maxwell, Perry, Sharaf, Osama, Diamond, Jim, Watson, Jenny, Williamson, Kathleen
Pubblicato in Cell Oncol (2010)

Response of Inflammatory Cystoid Macular Edema to Treatment with Oral Acetazolamide

di Pepple, Kathryn L., Nguyen, Macklin H., Pakzad-Vaezi, Kaivon, Williamson, Kathleen, Odell, Naomi, Lee, Cecilia, Leveque, Thellea K., Van Gelder, Russell N.
Pubblicato in 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

di De Silva, Daham, Williamson, Kathleen A., Dayasiri, Kavinda Chandimal, Suraweera, Nayani, Quinters, Vinushiya, Abeysekara, Hiranya, Wanigasinghe, Jithangi, De Silva, Deepthi, De Silva, Harendra
Pubblicato in BMC Pediatr (2018)

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

di 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.
Pubblicazione 2009

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

di 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
Pubblicazione 2013

A recurrent de novo mutation in ACTG1 causes isolated ocular coloboma

di 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
Pubblicato in 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...

di 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
Pubblicato in BMC Pulm Med (2016)

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

di 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.
Pubblicazione 2014

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

di 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
Pubblicato in Hum Mol Genet (2016)

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

di 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
Pubblicato in J Med Genet (2023)

NAA10 polyadenylation signal variants cause syndromic microphthalmia

di 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
Pubblicato in J Med Genet (2019)

Heterozygous Mutations of OTX2 Cause Severe Ocular Malformations

di 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.
Pubblicazione 2005

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

di 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
Pubblicato in J Endocr Soc (2019)

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

di 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.
Pubblicato in Genet Med (2019)

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

di 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.
Pubblicazione 2014

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

di 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.
Pubblicato in Am J Hum Genet (2016)

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

di 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
Pubblicato in J Clin Endocrinol Metab (2020)

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

di 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.
Pubblicato in PLoS One (2016)