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Congenital aniridia beyond black eyes: From phenotype and novel genetic mechanisms to innovative therapeutic approaches

Autor: Daruich, Alejandra, Duncan, Melinda, Robert, Matthieu P., Lagali, Neil, Semina, Elena V., Aberdam, Daniel, Ferrari, Stefano, Romano, Vito, Burin des Roziers, Cyril, Benkortebi, Rabia, De Vergnes, Nathalie, Polak, Michel, Chiambaretta, Frederic, Nischal, Ken K., Behar-Cohen, Francine, Valleix, Sophie, Bremond-Gignac, Dominique

Publikováno v: In Progress in Retinal and Eye Research July 2023 95

SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile

Autor: Nickerson, Deborah, Bamshad, Michael, Leal, Suzanne, Ambrose, John C., Arumugam, Prabhu, Bevers, Roel, Bleda, Marta, Boardman-Pretty, Freya, Boustred, Christopher R., Brittain, Helen, Caulfield, Mark J., Chan, Georgia C., Elgar, Greg, Fowler, Tom, Giess, Adam, Hamblin, Angela, Henderson, Shirley, Hubbard, Tim J.P., Jackson, Rob, Jones, Louise J., Kasperaviciute, Dalia, Kayikci, Melis, Kousathanas, Athanasios, Lahnstein, Lea, Leigh, Sarah E.A., Leong, Ivonne U.S., Lopez, Javier F., FionaMaleady-Crowe, McEntagart, Meriel, Minneci, Federico, Moutsianas, Loukas, Mueller, Michael, Murugaesu, Nirupa, Need, Anna C., O’Donovan, Peter, Odhams, Chris A., Patch, Christine, Pereira, Mariana Buongermino, Perez-Gil, Daniel, Pullinger, John, TahrimaRahim, Rendon, Augusto, TimRogers, Savage, Kevin, Sawant, Kushmita, Scott, Richard H., Siddiq, Afshan, Sieghart, Alexander, Smith, Samuel C., Sosinsky, Alona, Stuckey, Alexander, Tanguy, Mélanie, Taylor Tavares, Ana Lisa, Thomas, Ellen R.A., Thompson, Simon R., Tucci, Arianna, Welland, Matthew J., Williams, Eleanor, Witkowska, Katarzyna, Wood, Suzanne M., Al-Jawahiri, Reem, Foroutan, Aidin, Kerkhof, Jennifer, McConkey, Haley, Levy, Michael, Haghshenas, Sadegheh, Rooney, Kathleen, Turner, Jasmin, Shears, Debbie, Holder, Muriel, Lefroy, Henrietta, Castle, Bruce, Reis, Linda M., Semina, Elena V., Lachlan, Katherine, Chandler, Kate, Wright, Thomas, Clayton-Smith, Jill, Hug, Franziska Phan, Pitteloud, Nelly, Bartoloni, Lucia, Hoffjan, Sabine, Park, Soo-Mi, Thankamony, Ajay, Lees, Melissa, Wakeling, Emma, Naik, Swati, Hanker, Britta, Girisha, Katta M., Agolini, Emanuele, Giuseppe, Zampino, Alban, Ziegler, Tessarech, Marine, Keren, Boris, Afenjar, Alexandra, Zweier, Christiane, Reis, Andre, Smol, Thomas, Tsurusaki, Yoshinori, Nobuhiko, Okamoto, Sekiguchi, Futoshi, Tsuchida, Naomi, Matsumoto, Naomichi, Kou, Ikuyo, Yonezawa, Yoshiro, Ikegawa, Shiro, Callewaert, Bert, Freeth, Megan, Kleinendorst, Lotte, Donaldson, Alan, Alders, Marielle, De Paepe, Anne, Sadikovic, Bekim, McNeill, Alisdair

Publikováno v: In Genetics in Medicine June 2022 24(6):1261-1273

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