The genetic architecture of aniridia and Gillespie syndrome

Por Hall, Hildegard Nikki, Williamson, Kathleen A., FitzPatrick, David R.
Publicado no Hum Genet (2018)

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

Por Moss, Adam M, Harris, Alon, Siesky, Brent, Rusia, Deepam, Williamson, Kathleen M, Shoshani, Yochai
Publicado em 2010

Novel In Vitro Assays for the Characterization of EMT in Tumourigenesis

Por Koo, Vincent, El Mekabaty, Amgad, Hamilton, Peter, Maxwell, Perry, Sharaf, Osama, Diamond, Jim, Watson, Jenny, Williamson, Kathleen
Publicado no Cell Oncol (2010)

Response of Inflammatory Cystoid Macular Edema to Treatment with Oral Acetazolamide

Por Pepple, Kathryn L., Nguyen, Macklin H., Pakzad-Vaezi, Kaivon, Williamson, Kathleen, Odell, Naomi, Lee, Cecilia, Leveque, Thellea K., Van Gelder, Russell N.
Publicado no 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

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 no BMC Pediatr (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 em 2009

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

Por 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
Publicado em 2013

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 no 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...

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 no BMC Pulm Med (2016)

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

Por 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.
Publicado em 2014

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

Por 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
Publicado no Hum Mol Genet (2016)

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

Por 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
Publicado no J Med Genet (2023)

NAA10 polyadenylation signal variants cause syndromic microphthalmia

Por 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
Publicado no J Med Genet (2019)

Heterozygous Mutations of OTX2 Cause Severe Ocular Malformations

Por 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.
Publicado em 2005

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

Por 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
Publicado no J Endocr Soc (2019)

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 no Genet Med (2019)

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

Por 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.
Publicado em 2014

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 no Am J Hum Genet (2016)

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

Por 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
Publicado no J Clin Endocrinol Metab (2020)

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 no PLoS One (2016)