Closing the Gap: Mechanisms of Epithelial Fusion During Optic Fissure Closure

por Chan, Brian Ho Ching, Moosajee, Mariya, Rainger, Joe
Publicado 2021

Identification of Novel Coloboma Candidate Genes through Conserved Gene Expression Analyses across Four Vertebrate Species

por Trejo-Reveles, Violeta, Owen, Nicholas, Ching Chan, Brian Ho, Toms, Maria, Schoenebeck, Jeffrey J., Moosajee, Mariya, Rainger, Joe
Publicado 2023

The transcriptional signature associated with human motile cilia

por Patir, Anirudh, Fraser, Amy M., Barnett, Mark W., McTeir, Lynn, Rainger, Joe, Davey, Megan G., Freeman, Tom C.
Publicado 2020

Detailed analysis of chick optic fissure closure reveals Netrin-1 as an essential mediator of epithelial fusion

por Hardy, Holly, Prendergast, James GD, Patel, Aara, Dutta, Sunit, Trejo-Reveles, Violeta, Kroeger, Hannah, Yung, Andrea R, Goodrich, Lisa V, Brooks, Brian, Sowden, Jane C, Rainger, Joe
Publicado 2019

A Trans-Acting Protein Effect Causes Severe Eye Malformation in the Mp Mouse

por Rainger, Joe, Keighren, Margaret, Keene, Douglas R., Charbonneau, Noe L., Rainger, Jacqueline K., Fisher, Malcolm, Mella, Sebastien, Huang, Jeffrey T-J., Rose, Lorraine, van't Hof, Rob, Sakai, Lynne Y., Jackson, Ian J., FitzPatrick, David R.
Publicado 2013

Robust Genetic Analysis of the X-Linked Anophthalmic (Ie) Mouse

por Hernandez-Moran, Brianda A., Papanastasiou, Andrew S., Parry, David, Meynert, Alison, Gautier, Philippe, Grimes, Graeme, Adams, Ian R., Trejo-Reveles, Violeta, Bengani, Hemant, Keighren, Margaret, Jackson, Ian J., Adams, David J., FitzPatrick, David R., Rainger, Joe
Publicado 2022

Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequence

por Rainger, Jacqueline K., Bhatia, Shipra, Bengani, Hemant, Gautier, Philippe, Rainger, Joe, Pearson, Matt, Ansari, Morad, Crow, Jayne, Mehendale, Felicity, Palinkasova, Bozena, Dixon, Michael J., Thompson, Pamela J., Matarin, Mar, Sisodiya, Sanjay M., Kleinjan, Dirk A., FitzPatrick, David R.
Publicado 2014

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

Arginine to Glutamine Variant in Olfactomedin Like 3 (OLFML3) Is a Candidate for Severe Goniodysgenesis and Glaucoma in the Border Collie Dog Breed

por Pugh, Carys A., Farrell, Lindsay L., Carlisle, Ailsa J., Bush, Stephen J., Ewing, Adam, Trejo-Reveles, Violeta, Matika, Oswald, de Kloet, Arne, Walsh, Caitlin, Bishop, Stephen C., Prendergast, James G. D., Rainger, Joe, Schoenebeck, Jeffrey J., Summers, Kim M.
Publicado 2019

A Dominant-Negative Mutation of Mouse Lmx1b Causes Glaucoma and Is Semi-lethal via LBD1-Mediated Dimerisation

por Cross, Sally H., Macalinao, Danilo G., McKie, Lisa, Rose, Lorraine, Kearney, Alison L., Rainger, Joe, Thaung, Caroline, Keighren, Margaret, Jadeja, Shalini, West, Katrine, Kneeland, Stephen C., Smith, Richard S., Howell, Gareth R., Young, Fiona, Robertson, Morag, van t' Hof, Rob, John, Simon W. M., Jackson, Ian J.
Publicado 2014

Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia

por Hall, Hildegard Nikki, Bengani, Hemant, Hufnagel, Robert B., Damante, Giuseppe, Ansari, Morad, Marsh, Joseph A., Grimes, Graeme R., von Kriegsheim, Alex, Moore, David, McKie, Lisa, Rahmat, Jamalia, Mio, Catia, Blyth, Moira, Keng, Wee Teik, Islam, Lily, McEntargart, Meriel, Mannens, Marcel M., Heyningen, Veronica Van, Rainger, Joe, Brooks, Brian P., FitzPatrick, David R.
Publicado 2022

Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice

por Rainger, Joe, van Beusekom, Ellen, Ramsay, Jacqueline K., McKie, Lisa, Al-Gazali, Lihadh, Pallotta, Rosanna, Saponari, Anita, Branney, Peter, Fisher, Malcolm, Morrison, Harris, Bicknell, Louise, Gautier, Philippe, Perry, Paul, Sokhi, Kishan, Sexton, David, Bardakjian, Tanya M., Schneider, Adele S., Elcioglu, Nursel, Ozkinay, Ferda, Koenig, Rainer, Mégarbané, Andre, Semerci, C. Nur, Khan, Ayesha, Zafar, Saemah, Hennekam, Raoul, Sousa, Sérgio B., Ramos, Lina, Garavelli, Livia, Furga, Andrea Superti, Wischmeijer, Anita, Jackson, Ian J., Gillessen-Kaesbach, Gabriele, Brunner, Han G., Wieczorek, Dagmar, van Bokhoven, Hans, FitzPatrick, David R.
Publicado 2011

Correction: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice

por Rainger, Joe, van Beusekom, Ellen, Ramsay, Jacqueline K., McKie, Lisa, Al-Gazali, Lihadh, Pallotta, Rosanna, Saponari, Anita, Branney, Peter, Fisher, Malcolm, Morrison, Harris, Bicknell, Louise, Gautier, Philippe, Perry, Paul, Sokhi, Kishan, Sexton, David, Bardakjian, Tanya M., Schneider, Adele S., Elcioglu, Nursel, Ozkinay, Ferda, Koenig, Rainer, Mégarbané, Andre, Semerci, C. Nur, Khan, Ayesha, Zafar, Saemah, Hennekam, Raoul, Sousa, Sérgio B., Ramos, Lina, Garavelli, Livia, Furga, Andrea Superti, Wischmeijer, Anita, Jackson, Ian J., Gillessen-Kaesbach, Gabriele, Brunner, Han G., Wieczorek, Dagmar, van Bokhoven, Hans, FitzPatrick, David R.
Publicado 2018

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