Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome by Scheidecker, Sophie, Hull, Sarah, Perdomo, Yaumara, Studer, Fouzia, Pelletier, Valérie, Muller, Jean, Stoetzel, Corinne, Schaefer, Elise, Defoort-Dhellemmes, Sabine, Drumare, Isabelle, Holder, Graham E, Hamel, Christian P, Webster, Andrew R, Moore, Anthony T, Puech, Bernard, Dollfus, Hélène J

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Consensus clinical management guidelines for Alström syndrome by Tahani, Natascia, Maffei, Pietro, Dollfus, Hélène, Paisey, Richard, Valverde, Diana, Milan, Gabriella, Han, Joan C, Favaretto, Francesca, Madathil, Shyam C, Dawson, Charlotte, Armstrong, Matthew J, Warfield, Adrian T, Düzenli, Selma, Francomano, Clair A, Gunay-Aygun, Meral, Dassie, Francesca, Marion, Vincent, Valenti, Marina, Leeson-Beevers, Kerry, Chivers, Ann, Steeds, Richard, Barrett, Timothy, Geberhiwot, Tarekegn

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Cystoid maculopathy is a frequent feature of Cohen syndrome-associated retinopathy by Gabrielle, Pierre-Henry, Faivre, Laurence, Audo, Isabelle, Zanlonghi, Xavier, Dollfus, Hélène, Thiadens, Alberta A. H. J., Zeitz, Christina, Mancini, Grazia M. S., Perdomo, Yaumara, Mohand-Saïd, Saddek, Lizé, Eléonore, Lhussiez, Vincent, Nandrot, Emeline F., Acar, Niyazi, Creuzot-Garcher, Catherine, Sahel, José-Alain, Ansar, Muhammad, Thauvin-Robinet, Christel, Duplomb, Laurence, Da Costa, Romain

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Mutations in CNNM4 Cause Jalili Syndrome, Consisting of Autosomal-Recessive Cone-Rod Dystrophy and Amelogenesis Imperfecta by Parry, David A., Mighell, Alan J., El-Sayed, Walid, Shore, Roger C., Jalili, Ismail K., Dollfus, Hélène, Bloch-Zupan, Agnes, Carlos, Roman, Carr, Ian M., Downey, Louise M., Blain, Katharine M., Mansfield, David C., Shahrabi, Mehdi, Heidari, Mansour, Aref, Parissa, Abbasi, Mohsen, Michaelides, Michel, Moore, Anthony T., Kirkham, Jennifer, Inglehearn, Chris F.

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The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy by Wissinger, Bernd, Baumann, Britta, Buena-Atienza, Elena, Ravesh, Zeinab, Cideciyan, Artur V, Stingl, Katarina, Audo, Isabelle, Meunier, Isabelle, Bocquet, Beatrice, Traboulsi, Elias I, Hardcastle, Alison J, Gardner, Jessica C, Michaelides, Michel, Branham, Kari E, Rosenberg, Thomas, Andreasson, Sten, Dollfus, Hélène, Birch, David, Vincent, Andrea L, Martorell, Loreto, Català Mora, Jaume, Kellner, Ulrich, Rüther, Klaus, Lorenz, Birgit, Preising, Markus N, Manfredini, Emanuela, Zarate, Yuri A, Vijzelaar, Raymon, Zrenner, Eberhart, Jacobson, Samuel G, Kohl, Susanne

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Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders by Liu, James, He, Yi, Lwin, Cara, Han, Marina, Guan, Bin, Naik, Amelia, Bender, Chelsea, Moore, Nia, Huryn, Laryssa A, Sergeev, Yuri V, Qian, Haohua, Zeng, Yong, Dong, Lijin, Liu, Pinghu, Lei, Jingqi, Haugen, Carl J, Prasov, Lev, Shi, Ruifang, Dollfus, Hélène, Aristodemou, Petros, Laich, Yannik, Németh, Andrea H, Taylor, John, Downes, Susan, Krawczynski, Maciej R, Meunier, Isabelle, Strassberg, Melissa, Tenney, Jessica, Gao, Josephine, Shear, Matthew A, Moore, Anthony T, Duncan, Jacque L, Menendez, Beatriz, Hull, Sarah, Vincent, Andrea L, Siskind, Carly E, Traboulsi, Elias I, Blackstone, Craig, Sisk, Robert A, Miraldi Utz, Virginia, Webster, Andrew R, Michaelides, Michel, Arno, Gavin, Synofzik, Matthis, Hufnagel, Robert B

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Leber congenital amaurosis: Comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype–phenotype correlations as a strategy for molecula... by Hanein, Sylvain, Perrault, Isabelle, Gerber, Sylvie, Tanguy, Gaëlle, Barbet, Fabienne, Ducroq, Dominique, Calvas, Patrick, Dollfus, Hélène, Hamel, Christian, Lopponen, Tuija, Munier, Francis, Santos, Louisa, Shalev, Stavit, Zafeiriou, Dimitrios, Dufier, Jean‐Louis, Munnich, Arnold, Rozet, Jean‐Michel, Kaplan, Josseline

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In vivo phenotypic and molecular characterization of retinal degeneration in mouse models of three ciliopathies by Brun, Agnès, Yu, Xiangxiang, Obringer, Cathy, Ajoy, Daniel, Haser, Elodie, Stoetzel, Corinne, Roux, Michel J., Messaddeq, Nadia, Dollfus, Hélène, Marion, Vincent

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Value of MRI olfactory bulb evaluation in the assessment of olfactory dysfunction in Bardet-Biedl syndrome by Braun, J.J., Noblet, V., Kremer, S., Molière, S., Dollfus, H., Marion, V., Goetz, N., Muller, J., Riehm, S.

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Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling by Chaki, Moumita, Airik, Rannar, Ghosh, Amiya K., Giles, Rachel H., Chen, Rui, Slaats, Gisela G., Wang, Hui, Hurd, Toby W., Zhou, Weibin, Cluckey, Andrew, Gee, Heon Yung, Ramaswami, Gokul, Hong, Chen-Jei, Hamilton, Bruce A., Červenka, Igor, Ganji, Ranjani Sri, Bryja, Vitezslav, Arts, Heleen H., van Reeuwijk, Jeroen, Oud, Machteld M., Letteboer, Stef J.F., Roepman, Ronald, Husson, Hervé, Ibraghimov-Beskrovnaya, Oxana, Yasunaga, Takayuki, Walz, Gerd, Eley, Lorraine, Sayer, John A., Schermer, Bernhard, Liebau, Max C., Benzing, Thomas, Le Corre, Stephanie, Drummond, Iain, Janssen, Sabine, Allen, Susan J., Natarajan, Sivakumar, O’Toole, John F., Attanasio, Massimo, Saunier, Sophie, Antignac, Corinne, Koenekoop, Robert K., Ren, Huanan, Lopez, Irma, Nayir, Ahmet, Stoetzel, Corinne, Dollfus, Helene, Massoudi, Rustin, Gleeson, Joseph G., Andreoli, Sharon P., Doherty, Dan G., Lindstrad, Anna, Golzio, Christelle, Katsanis, Nicholas, Pape, Lars, Abboud, Emad B., Al-Rajhi, Ali A., Lewis, Richard A., Omran, Heymut, Lee, Eva Y.-H.P., Wang, Shaohui, Sekiguchi, JoAnn M., Saunders, Rudel, Johnson, Colin A., Garner, Elizabeth, Vanselow, Katja, Andersen, Jens S., Shlomai, Joseph, Nurnberg, Gudrun, Nurnberg, Peter, Levy, Shawn, Smogorzewska, Agata, Otto, Edgar A., Hildebrandt, Friedhelm

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Mutation spectrum and splicing variants in the OPA1 gene by DELETTRE, Cécile, GRIFFOIN, Jean-Michel, KAPLAN, Josseline, DOLLFUS, Hélène, LORENZ, Birgit, FAIVRE, Laurence, LENAERS, Guy, BELENGUER, Pascale, HAMEL, Christian P

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Retinal layer segmentation in multiple sclerosis: a systematic review and meta-analysis by Petzold, Axel, Balcer, Laura J, Calabresi, Peter A, Costello, Fiona, Frohman, Teresa C, Frohman, Elliot M, Martinez-Lapiscina, Elena H, Green, Ari J, Kardon, Randy, Outteryck, Olivier, Paul, Friedemann, Schippling, Sven, Vermersch, Patrik, Villoslada, Pablo, Balk, Lisanne J, Aktas, Orhan, Albrecht, Philipp, Ashworth, Jane, Asgari, Nasrin, Balcer, Laura, Balk, Lisanne, Black, Graeme, Boehringer, Daniel, Behbehani, Raed, Benson, Leslie, Bermel, Robert, Bernard, Jacqueline, Brandt, Alexander, Burton, Jodie, Calabresi, Peter, Calkwood, Jonathan, Cordano, Christian, Costello, Fiona, Courtney, Ardith, Cruz-Herranz, Andrés, Diem, Ricarda, Daly, Avril, Dollfus, Helene, Fasser, Christina, Finke, Carsten, Frederiksen, Jette, Frohman, Elliot, Frohman, Teresa, Garcia-Martin, Elenaw, Suárez, Inés González, Pihl-Jensen, Gorm, Graves, Jennifer, Green, Ari, Havla, Joachim, Hemmer, Bernhard, Huang, Su-Chun, Imitola, Jaime, Jiang, Hong, Keegan, David, Kildebeck, Eric, Klistorner, Alexander, Knier, Benjamin, Kolbe, Scott, Korn, Thomas, LeRoy, Bart, Leocani, Letizia, Leroux, Dorothee, Levin, Netta, Liskova, Petra, Lorenz, Birgit, Preiningerova, Jana Lizrova, Martínez-Lapiscina, Elena Hernández, Mikolajczak, Janine, Montalban, Xavier, Morrow, Mark, Nolan, Rachel, Oberwahrenbrock, Timm, Oertel, Frederike Cosima, Oreja-Guevara, Celia, Osborne, Benjamin, Outteryck, Olivier, Papadopoulou, Athina, Paul, Friedemann, Petzold, Axel, Ringelstein, Marius, Saidha, Shiv, Sanchez-Dalmau, Bernardo, Sastre-Garriga, Jaume, Schippling, Sven, Shin, Robert, Shuey, Neil, Soelberg, Kerstin, Toosy, Ahmed, Torres, Rubén, Vidal-Jordana, Angela, Villoslada, Pablo, Waldman, Amy, White, Owen, Yeh, Ann, Wong, Sui, Zimmermann, Hanna

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Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources by Köhler, Sebastian, Carmody, Leigh, Vasilevsky, Nicole, Jacobsen, Julius O B, Danis, Daniel, Gourdine, Jean-Philippe, Gargano, Michael, Harris, Nomi L, Matentzoglu, Nicolas, McMurry, Julie A, Osumi-Sutherland, David, Cipriani, Valentina, Balhoff, James P, Conlin, Tom, Blau, Hannah, Baynam, Gareth, Palmer, Richard, Gratian, Dylan, Dawkins, Hugh, Segal, Michael, Jansen, Anna C, Muaz, Ahmed, Chang, Willie H, Bergerson, Jenna, Laulederkind, Stanley J F, Yüksel, Zafer, Beltran, Sergi, Freeman, Alexandra F, Sergouniotis, Panagiotis I, Durkin, Daniel, Storm, Andrea L, Hanauer, Marc, Brudno, Michael, Bello, Susan M, Sincan, Murat, Rageth, Kayli, Wheeler, Matthew T, Oegema, Renske, Lourghi, Halima, Della Rocca, Maria G, Thompson, Rachel, Castellanos, Francisco, Priest, James, Cunningham-Rundles, Charlotte, Hegde, Ayushi, Lovering, Ruth C, Hajek, Catherine, Olry, Annie, Notarangelo, Luigi, Similuk, Morgan, Zhang, Xingmin A, Gómez-Andrés, David, Lochmüller, Hanns, Dollfus, Hélène, Rosenzweig, Sergio, Marwaha, Shruti, Rath, Ana, Sullivan, Kathleen, Smith, Cynthia, Milner, Joshua D, Leroux, Dorothée, Boerkoel, Cornelius F, Klion, Amy, Carter, Melody C, Groza, Tudor, Smedley, Damian, Haendel, Melissa A, Mungall, Chris, Robinson, Peter N

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IMPROVE 2022 International Meeting on Pathway‐Related Obesity: Vision of Excellence by Kühnen, Peter, Argente, Jesús, Clément, Karine, Dollfus, Hélène, Dubern, Béatrice, Farooqi, Sadaf, Groot, Corjan, Grüters, Annette, Holm, Jens‐Christian, Hopkins, Mark, Kleinendorst, Lotte, Körner, Antje, Meeker, David, Rydén, Mikael, Schnurbein, Julia, Tschöp, Matthias, Yeo, Giles S. H., Zorn, Stefanie, Wabitsch, Martin

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European Reference Networks: challenges and opportunities by Tumiene, Birute, Graessner, Holm, Mathijssen, Irene MJ, Pereira, Alberto M, Schaefer, Franz, Scarpa, Maurizio, Blay, Jean-Yves, Dollfus, Helene, Hoogerbrugge, Nicoline

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An ontological foundation for ocular phenotypes and rare eye diseases by Sergouniotis, Panagiotis I, Maxime, Emmanuel, Leroux, Dorothée, Olry, Annie, Thompson, Rachel, Rath, Ana, Robinson, Peter N, Dollfus, Hélène

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Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome by 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

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Identification of a Novel BBS Gene ( BBS12) Highlights the Major Role of a Vertebrate-Specific Branch of Chaperonin-Related Proteins in Bardet-Biedl Syndrome by Stoetzel, Corinne, Muller, Jean, Laurier, Virginie, Davis, Erica E., Zaghloul, Norann A., Vicaire, Serge, Jacquelin, Cécile, Plewniak, Frédéric, Leitch, Carmen C., Sarda, Pierre, Hamel, Christian, de Ravel, Thomy J.L., Lewis, Richard Alan, Friederich, Evelyne, Thibault, Christelle, Danse, Jean-Marc, Verloes, Alain, Bonneau, Dominique, Katsanis, Nicholas, Poch, Olivier, Mandel, Jean-Louis, Dollfus, Hélène

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Comparing the Bbs10 complete knockout phenotype with a specific renal epithelial knockout one highlights the link between renal defects and systemic inactivation in mice by Cognard, Noëlle, Scerbo, Maria J, Obringer, Cathy, Yu, Xiangxiang, Costa, Fanny, Haser, Elodie, Le, Dane, Stoetzel, Corinne, Roux, Michel J, Moulin, Bruno, Dollfus, Hélène, Marion, Vincent

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Mesoaxial polydactyly is a major feature in Bardet-Biedl syndrome patients with LZTFL1 (BBS17) mutations by Schaefer, E., Lauer, J., Durand, M., Pelletier, V., Obringer, C., Claussmann, A., Braun, J.-J., Redin, C., Mathis, C., Muller, J., Schmidt-Mutter, C., Flori, E., Marion, V., Stoetzel, C., Dollfus, H.

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