Closing the Gap : Mechanisms of Epithelial Fusion During Optic Fissure Closure
Chan, Brian Ho Ching, Moosajee, Mariya, Rainger, Joe
Published in Frontiers in cell and developmental biology (11.01.2021)
Published in Frontiers in cell and developmental biology (11.01.2021)
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Journal Article
Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia
Hall, Hildegard Nikki, Bengani, Hemant, Hufnagel, Robert B, Damante, Giuseppe, Ansari, Morad, Marsh, Joseph A, Grimes, Graeme R, Kriegsheim, Alex von, 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
Published in PloS one (22.11.2022)
Published in PloS one (22.11.2022)
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Journal Article
A secreted WNT-ligand-binding domain of FZD5 generated by a frameshift mutation causes autosomal dominant coloboma
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
Published in Human molecular genetics (01.04.2016)
Published in Human molecular genetics (01.04.2016)
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Journal Article
Detailed analysis of chick optic fissure closure reveals Netrin-1 as an essential mediator of epithelial fusion
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
Published in eLife (04.06.2019)
Published in eLife (04.06.2019)
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Journal Article
Identification of Novel Coloboma Candidate Genes through Conserved Gene Expression Analyses across Four Vertebrate Species
Trejo-Reveles, Violeta, Owen, Nicholas, Ching Chan, Brian Ho, Toms, Maria, Schoenebeck, Jeffrey J, Moosajee, Mariya, Rainger, Joe
Published in Biomolecules (Basel, Switzerland) (01.02.2023)
Published in Biomolecules (Basel, Switzerland) (01.02.2023)
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Journal Article
Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome
Williamson, Kathleen A., Hever, Ann M., Rainger, Joe, Rogers, R. Curtis, Magee, Alex, Fiedler, Zdenek, Keng, Wee Teik, Sharkey, Freddie H., McGill, Niolette, Hill, Clare J., Schneider, Adele, Messina, Mario, Turnpenny, Peter D., Fantes, Judy A., van Heyningen, Veronica, FitzPatrick, David R.
Published in Human molecular genetics (01.05.2006)
Published in Human molecular genetics (01.05.2006)
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Journal Article
Arginine to Glutamine Variant in Olfactomedin Like 3 (OLFML3) Is a Candidate for Severe Goniodysgenesis and Glaucoma in the Border Collie Dog Breed
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
Published in G3 : genes - genomes - genetics (01.03.2019)
Published in G3 : genes - genomes - genetics (01.03.2019)
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Journal Article
A trans-acting protein effect causes severe eye malformation in the Mp mouse
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
Published in PLoS genetics (01.12.2013)
Published in PLoS genetics (01.12.2013)
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Journal Article
A dominant-negative mutation of mouse Lmx1b causes glaucoma and is semi-lethal via LDB1-mediated dimerization [corrected]
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
Published in PLoS genetics (01.05.2014)
Published in PLoS genetics (01.05.2014)
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Journal Article
The transcriptional signature associated with human motile cilia
Patir, Anirudh, Fraser, Amy M., Barnett, Mark W., McTeir, Lynn, Rainger, Joe, Davey, Megan G., Freeman, Tom C.
Published in Scientific reports (02.07.2020)
Published in Scientific reports (02.07.2020)
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Journal Article
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome
Shaw, Natalie D, Brand, Harrison, Kupchinsky, Zachary A, Bengani, Hemant, Plummer, Lacey, Jones, Takako I, Erdin, Serkan, Williamson, Kathleen A, Rainger, Joe, Stortchevoi, Alexei, Samocha, Kaitlin, Currall, Benjamin B, Dunican, Donncha S, Collins, Ryan L, Willer, Jason R, Lek, Angela, Lek, Monkol, Nassan, Malik, Pereira, Shahrin, Kammin, Tammy, Lucente, Diane, Silva, Alexandra, Seabra, Catarina M, Chiang, Colby, An, Yu, Ansari, Morad, Rainger, Jacqueline K, Joss, Shelagh, Smith, Jill Clayton, Lippincott, Margaret F, Singh, Sylvia S, Patel, Nirav, Jing, Jenny W, Law, Jennifer R, Ferraro, Nalton, Verloes, Alain, Rauch, Anita, Steindl, Katharina, Zweier, Markus, Scheer, Ianina, Sato, Daisuke, Okamoto, Nobuhiko, Jacobsen, Christina, Tryggestad, Jeanie, Chernausek, Steven, Schimmenti, Lisa A, Brasseur, Benjamin, Cesaretti, Claudia, García-Ortiz, Jose E, Buitrago, Tatiana Pineda, Silva, Orlando Perez, Hoffman, Jodi D, Mühlbauer, Wolfgang, Ruprecht, Klaus W, Loeys, Bart L, Shino, Masato, Kaindl, Angela M, Cho, Chie-Hee, Morton, Cynthia C, Meehan, Richard R, van Heyningen, Veronica, Liao, Eric C, Balasubramanian, Ravikumar, Hall, Janet E, Seminara, Stephanie B, Macarthur, Daniel, Moore, Steven A, Yoshiura, Koh-ichiro, Gusella, James F, Marsh, Joseph A, Graham, John M, Lin, Angela E, Katsanis, Nicholas, Jones, Peter L, Crowley, William F, Davis, Erica E, FitzPatrick, David R, Talkowski, Michael E
Published in Nature genetics (01.02.2017)
Published in Nature genetics (01.02.2017)
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Journal Article
A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect
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.
Published in American journal of human genetics (05.05.2016)
Published in American journal of human genetics (05.05.2016)
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Journal Article
Heterozygous Loss-of-Function Mutations in YAP1 Cause Both Isolated and Syndromic Optic Fissure Closure Defects
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.
Published in American journal of human genetics (06.02.2014)
Published in American journal of human genetics (06.02.2014)
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Journal Article
Monoallelic and Biallelic Mutations in MAB21L2 Cause a Spectrum of Major Eye Malformations
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, Hurles, Matthew, FitzPatrick, David R., Al-Turki, Saeed, Anderson, Carl, Barroso, Inês, Beales, Philip, Bentham, Jamie, Bhattacharya, Shoumo, Carss, Keren, Chatterjee, Krishna, Cirak, Sebhattin, Cosgrove, Catherine, Daly, Allan, Floyd, Jamie, Franklin, Chris, Futema, Marta, Humphries, Steve, McCarthy, Shane, Mitchison, Hannah, Muntoni, Francesco, Onoufriadis, Alexandros, Parker, Victoria, Payne, Felicity, Plagnol, Vincent, Raymond, Lucy, Savage, David, Scambler, Peter, Schmidts, Miriam, Semple, Robert, Serra, Eva, Stalker, Jim, van Kogelenberg, Margriet, Vijayarangakannan, Parthiban, Walter, Klaudia, Wood, Gretta, 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.
Published in American journal of human genetics (05.06.2014)
Published in American journal of human genetics (05.06.2014)
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Journal Article
A recurrent de novo mutation in ACTG1 causes isolated ocular coloboma
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, Heyningen, Veronica, Davey, Megan G, FitzPatrick, David R
Published in Human mutation (01.08.2017)
Published in Human mutation (01.08.2017)
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Journal Article
Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequence
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.
Published in Human molecular genetics (15.05.2014)
Published in Human molecular genetics (15.05.2014)
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Journal Article
Robust Genetic Analysis of the X-Linked Anophthalmic ( Ie ) Mouse
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
Published in Genes (05.10.2022)
Published in Genes (05.10.2022)
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Journal Article
Miller (Genée―Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH
RAINGER, Joe, BENGANI, Hemant, MERCER, Catherine, MCKENZIE, Kathryn, LENGFELD, Tobias, QUEROKL, Blanca Gener, BRANNEY, Peter, MCKAY, Stewart, MORRISON, Harris, MEDINA, Bethan, ROBERTSON, Morag, KOHLHASE, Jurgen, CAMPBELL, Leigh, GORDON, Colin, KIRK, Jean, WIECZOREK, Dagmar, FITZPATRICK, David R, ANDERSON, Eve, SOKHI, Kishan, LAM, Wayne, RIESS, Angelika, ANSARI, Morad, SMITHSON, Sarah, LEES, Melissa
Published in Human molecular genetics (15.09.2012)
Published in Human molecular genetics (15.09.2012)
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